Copyright 0 1983 by the Genetics Society of America

ANALYSIS O F THE COVARIANCE STRUCTURE OF DIGITAL

RIDGE COUNTS IN THE OFFSPRING O F MONOZYGOTIC TWINS

RITA M. CANTOR,’ WALTER E. NANCE, LINDON J. EAVES, PHYLLIS M. WINTER AND

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MARSHA M. BLANCHARD
Department of Human Genetics, Medical College of Virginia, Richmond, Virginia 23298

Manuscript received August 31, 1982

Revised copy accepted November 17,1982

ABSTRACT
Improved methods for analysis of covariance structures now permit the
rigorous testing of multivariate genetic hypotheses. Using J ~ R E S K O G ’ SLisrel IV
computer program we have conducted a confirmatory factor analysis of dermal
ridge counts on the individual fingers of 509 offspring of 107 monozygotic twin
pairs. Prior to the initiation of the model-fitting procedure, the sex-adjusted
ridge counts for the offspring of male and female twins were partitioned by a
multivariate nested analysis of variance yielding five 10 x 10 variance-covari-
ance matrices containing a total of 275 distinctly observed parameters with
which to estimate latent sources of genetic and environmental variation a n d
test hypotheses about the factor structure of those latent causes. To provide a n
adequate explanation for the observed patterns of covariation, it was necessary
to include additive genetic, random environmental, epistatic and maternal
effects in the model and a structure for the additive genetic effects which
included a general factor and allowed for hand assymmetry and finger sym-
metry. The results illustrate the value of these methods for the analysis of
interrelated metric traits.

HE dermatoglyphic patterns of the hands and feet are formed during early
T fetal life and remain essentially unchanged thereafter. Consequently, these
traits are especially useful for analysis of genetic and environmental factors
that influence prenatal development. Since GALTON’S time it has been recognized
that many dermatoglyphic variables exhibit a high degree of genetic determi-
nation (GALTON 1892). In the early 1950s HOLT(1951, 1952, 1955) proposed that
total ridge count, a quantity determined by summing the largest of the ulnar
and radial counts for each finger, could be regarded as a polygenic trait with a
high heritability. Her inferences were based on the pattern of correlations
observed among twins, siblings and the parents and offspring in nuclear
families.
Although HOLTcould find no significant difference between the mother-
offspring and father-offspring correlations, subsequent analyses of data from
maternal and paternal half-siblings have raised the possibility of a maternal
effect on total ridge count (NANCE 1976). From univariate analyses this appears
to be confined primarily to the ridge counts of the thumbs and fifth digits (REED
et al. 1979). HOLTrecognized that the ridge counts of individual fingers exhibit
Current address: Division of Medical Genetics, Harbor UCLA-Medical Center, Torrance, California 90509.

Genetics 103 495-512 March. 1983.

496 R . M. CANTOR ET AL.

a complex pattern of intercorrelations not fully accounted for by her treatment

of the data. Subsequent refinements have been achieved by applying the
methods of exploratory factor analysis to data on individual ridge counts. These
efforts have led to the recognition of a strong general genetic factor influencing
all ten finger ridge counts and the existence of high correlations between
homologous fingers of the two hands and adjacent fingers on the same hand
(ROBERTSand COOPE1975; ROSTRON1977; NANCEet al. 1974; IAGOLNITZER 1978;

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SIERVOGEL, ROCHEand ROCHE1979; SINCH1979). In general, the thumbs and
fifth digits have tended to show lower correlations with other fingers, suggesting
a higher degree of independent determination. Some of these studies have dealt
with the phenotypic correlations between unrelated individuals or population
groups and, therefore, offer little potential for resolving the latent genetic and
environmental causes for the observed phenotypic intercorrelations (ROBERTS
and COOPE1975; JANTZ and HAWKINSON 1980; JANTZ et al. 1982). Other studies
have incorporated contrasts between related individuals such as monozygotic
(MZ) and dizygotic twins but have not employed methods that permit tests of
the resulting genetic and environmental factor structures (NANCEet al. 1974).
However, using data on twins, MARTINand EAVES(1977) have shown how
JORESKOG’S (1973) methods for the analysis of covariance structures can be
applied to test specific multivariate models for the genetic and environmental
determination of interrelated metric traits. In this paper we have extended their
techniques to exploit the unique relationships that exist among the offspring of
MZ twins. Using a widely available computer program Lisrel IV we have tested
the assumptions underlying HOLT’S model for the determination of ridge counts
and have proposed several biologically plausible extensions to explain the latent
sources of genetic and environmental variation in individual finger ridge counts,
as well as the factor structure of those sources.

GENETIC MODEL

In Table 1, the expected values for the among half-sibship, between sibship
nested within half-sibship, and within-sibship variance-covariance component
matrices (E,) derived from two multivariate nested analyses of variance on data
from the offspring of male and female MZ twins are expressed in terms of their
latent sources of variation (NANCE and COREY1976). In this model, VA, VAA
and Vo designate the covariance matrices of additive genetic, epistatic and
dominance effects, respectively, whereas V E Wand V M refer to random and
maternal environmental effects. Each latent source can be partitioned into one
or more constituent factors of specified structure, whereras the X s may in turn
be aggregated to specify the expected values of the observed mean square and
cross product matrices obtained from the multivariate nested analyses of
variance as shown in Table 2. Since typical half-sib data sets are not balanced,
the weighting coefficients, bl-bs, must be calculated from the distribution of
sibship and half-sibship sizes (SNEDECOR 1961). We have elected to use the
variance-covariance matrix derived from a pooled analysis for the within
sibship matrix since the expected values for this matrix are the same for the
offspring in male and female twins.
 ANALYSIS OF DIGITAL RIDGE COUNTS 497
TABLE 1
Expected contributions of latent sources of variation to variance-covariance
component matrices derived from nested multivariate analyses of variance of
MZ-half-sibship data

Latent sources of variation

Genetic Environmental
Variance compo-

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nent matrix V A V A A vu VM VEW

EA& !4 'ne 0 0 0
ZBd y4 %6 '/4 1 0
XW 'h % Yi 0 1
EB? ?4 356 '/4 0 0
EA? $2 %6 0 1 0
EA,X B , Zw = among half-sibship, between sibship nested within half-sibship, and within-sibship
variance component matrices, respectively, for male (6)and female (P) twin kinships; VA,VU, VD
= additive, epistatic and dominance variance-covariance matrices, respectively. VM,VE = maternal
and within family environmental variance-covariance matrices, respectively.

TABLE 2
Expected values of mean square and cross product matrices derived from
multivariate nested analysis of variance of MZ-half-sibship data expressed in
terms of constituent variance component matrices

Matrix of mean square Expected value of mean square matrix

d = male twin kinships; 0 = female twin kinships; A = among half-sibship component or mean
square matrix; B = between sibship nested within half-sibship component or mean square matrix;
W = within full-sibship mean square matrix; bl, bz, . . . , be = weighting coefficients determined
from distribution of family sizes.

In our application, using the Lisrel IV program (JORESKOG and SORBOM 1979),
models were fitted jointly to the five mean sums of squares and cross products
matrices. The expected values for each of the five matrices are given by

where A is a y x p matrix containing the loadings of factors on the y variables,

with each source of latent variation included in the model contributing at least
one factor to the A matrix. In the present application of Lisrel, p is a p x p
diagonal matrix whose nonzero elements correspond to the square roots of the
reciprocals of coefficients for each latent source of variation. The coefficients
are in turn calculated as the sum of the products of the component coefficients
in Table 1 and the appropriate weighting coefficients in Table 2. The tk matrix
is a p x p matrix of covariances among the postulated factors. If orthogonal
factors are postulated tk is a p x p identity matrix. Finally 8, is a y x y error
498 R. M. CANTOR ET AL.

matrix of residual variances and covariances that cannot be accounted for by

the postulated factors. Under some circumstances, the estimates of the residual
variances contained in the leading diagonal are negative. This complication can
be avoided by obtaining estimates of e''' as the single loadings ( A y , p + y )on y
specific factors in A, thereby constraining the error variances to be positive
since e, = For a given set of postulated factors, the program estimates
the maximum likelihood values for all of the elements in A, \k and 8 that have

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not been fixed or constrained.
The log likelihood function has been derived for the program under the
assumption of multivariate normality. A linear function of the log likelihood,
G
F = X (N,/N)[ln
g= 1
I Xg I + tr(SgXg-') - h I sg I - PI, (2)

is minimized. G is the number of covariance matrices, five in our case. N, is the

degrees of freedom for the gth matrix and N the total degrees of freedom. S and
Xg are the observed and expected covariance matrices, respectively, and p the
number of variables. F is a multiple of the log likelihood ratio statistic which
compares a proposed model with a perfectly fitting theoretical model. JORESKOC
and SORBOM (1979) have employed a modified version of the Fletcher-Powell
(1976) algorithm in their program to minimize F.
Output from a Lisrel analysis includes estimates of the freed and constrained
parameters as well as their standard errors and associated t-values. An overall
x2 goodness-of-fit statistic is also given which is the minimum value of F with
degrees of freedom
df = %Gp(p + 1) - q , (3)
where q is the total number of independent parameters estimated in all G of the
p x p matrices of mean sums of squares and cross products.
Several options are available for deciding whether a proposed factor structure
is appropriate. First, the x2 statistic and its associated P-value may be used to
reject models when the P-value falls below a certain criterion. Second, the value
of adding parameters to a given model may be assessed by the associated
reduction in the goodness-of-fit x2.For the addition of p independent parame-
ters, the difference in xz values has p degrees of freedom. Third, the t-values
associated with the specific factor loadings may be inspected to assess their
relative importance. Finally, the proportions of variation explained by compet-
ing models may be estimated when compared either with a more restrictive
alternative or with a simplified or baseline model. A statistic for this purpose
was proposed by TUCKER and LEWIS(1973) and modified by MARTIN, EAVESand
FULKER (1979). Its estimation requires the x2 value for the baseline model, such
as one that contains only random environmental effects, as well as the x2
statistic for the model under question. The percentage of the variance of the
observed variances and covariances unaccounted for by the simplified model
but explained by the proposed model is given by the formula
 ANALYSIS OF DIGITAL RIDGE COUNTS 499
where ~ 0 is2 the statistic under the “absurd” model, x12 is the statistic under the
proposed model and dfo and dfl are their respective degrees of freedom. One
may of course modify the procedure so that the “absurd” model is any one that
fits more poorly and is more restrictive than the model under consideration.

MATERIALS AND METHODS

Sample: This analysis was based on the counts of digital ridges in 222 children of 48 male MZ

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twin pairs and 287 children of 59 female MZ pairs. Data from 69 of the kinships were obtained at
Indiana University prior to 1976 under the supervision of one of us (W.E.N.) while he was Principal
Investigator of the Indiana University Human Genetics Center. The remaining 38 kinships were
studied at the Medical College of Virginia from 1975-1981. Ascertainment of the kinships was
primarily by advertisement or personal referral from previous participants. In Virginia, twins were
also ascertained from birth records. Only families classified as white were included in the analysis.
Rolled finger prints were taken by the inkless method using sensitized paper and developing fluid
obtained from the Faurot Company. In addition, ink prints were obtained on glossy paper using
Hollister disposable footprinters. The ulnar and radial ridges of each digit were counted and the
largest of the two selected for analysis following the approach used by HOLT(1968) in her studies
of total ridge count.
Preliminary statistical analyses: The mean, standard deviation, skewness and kurtosis were
calculated for the total ridge counts, as well as for individual fingers, in the sample of 509 offspring.
The results are shown in Table 3. The means and standard deviations were then used to adjust for
sex differences and to standardize the individual ridge counts for mean differences between the
fingers.
Multivariate nested analyses of variance were conducted separately for the offspring of male
and female twins and for the total (pooled) sample by the Nested procedure of the SAS package.
The output was assembled into five symmetric 10 X 10 matrices; each including 55 unique variances
and covariances, providing a total of 275 observed statistics with which to estimate parameters and
test hypotheses. The mean sums of squares and cross products matrices for the among half-sibship
and between-sibship-within-half-sibship partitions were calculated separately for the offspring of
male and female twins, whereas the within sibship covariance matrix was equated with the error
effects (within sibship covariance matrix) derived from a multivariate analysis of variance on the
entire sample. The five 10 x 10 mean square matrices that were used in the analysis are given in
APPENDIX I.

RESULTS

To obtain a baseline against which to judge subsequent improvements, we

began the analysis by testing the (absurd) hypothesis that the observed mean
square and mean cross product matrices could all be attributed to random
environmental variation and explained by a single parameter. To accomplish
this, we set 9 as a diagonal matrix with all elements constrained to be equal.
Since the input variables had all been standardized to unit variance, it was not
surprising that the estimate of 9 was 0.99 or very nearly 1. Nor was it surprising
that the goodness-of-fit was very poor (2 = 4044, 274 d.f.) since the proposed
model assumes that both the digital ridge counts of an individual and those of
genetically related individuals are uncorrelated (Table 4-a).
In HOLT’Sclassical treatment of the genetic determination of the digital ridges,
the counts for individual fingers are summed to obtain a total ridge count, and
a single random environmental influence is assumed, thus describing the total
variation with just two parameters. In our multivariate analysis several possible
approaches could have been used to specify the factor structure with two
500 R . M. CANTOR ET AL.

TABLE 3
Descriptive statistics for digital ridge count data from 270 male and 253 female
offspring

Digit Sex Mean S.D. Skewness Kurtosis

Left hand

Thumb d 16.2 5.7 -0.53* 0.56

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0 14.0 6.3 -0.40* 0.11
2nd d 10.5 6.5 0.17 -0.11
P 10.3 6.0 0.22 -0.15
3rd 6 11.4 5.8 -0.33 -0.30
P 10.4 5.8 -0.23 -0.52
4th d 15.0 5.6 -0.11 0.35
P 14.3 5.8 -0.26 -0.02
5th d 13.3 5.0 -0.11 -0.05
Q 12.0 5.1 -0.30 -0.48

Right hand

Thumb d 18.0 5.0 -0.61* -0.94*

P 16.3 6.0 -0.68* 1.03*
2nd d 11.0 7.0 0.05 -0.54*
0 10.8 6.5 0.02 -0.38
3rd d 11.2 5.3 -0.23 -0.34
0 10.9 5.3 -0.33 -0.45
4th d 14.5 5.7 -0.11 -0.25
0 14.6 6.0 -0.09 0.21
5th d 13.5 4.7 -0.15 -0.28
Q 12.2 5.4 -0.08 -0.74
Total ridge count

d 135.0 44.0 -0.15 -0.30

0 126.1 44.8 -0.42* -0.04
* P < 0.05.

parameters. For example, separate but uniform genetic and environmental

factors could be assumed to influence each of the ten fingers by constraining
the factor loadings within each latent source of variation to be equal. Alterna-
tively, one or both sources of variation could be assumed to operate through a
singIe common factor with equal factor loadings on every finger. HOLTshowed
that the unweighted sum of the digital ridge counts was much more heritable
than was any individual ridge count, thus indicating the existence of a substan-
tial number of positive correlations between the genetic determinants of digital
ridge counts and fewer environmental correlations. We, therefore, chose to
represent the HOLTmodel in our multivariate analysis by a single additive
genetic factor with equal weights on every digit and ten separate (specific)
environmental factors, with their loadings also constrained to be equal. As
shown in Table 4-b, this model resulted in a significant reduction in the 2
goodness-of-fit statistic and accounted for no less than 78% of the variation that
was not explained by the simple environmental model. Nevertheless, the model
 ANALYSIS OF DIGITAL RIDGE COUNTS 501

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m
u
E
0
Q
M
2
3
0

-
.-
..a
M
'ii

2
,
U
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2
+-
rn
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:
.-
a s
3 2
m 4
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-0

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31
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502 R . M. CANTOR ET AL.

may still be regarded as an inadequate explanation for the data because of the
poor fit (xz= 1089, 273 d.f.).
At least two general strategies could have been employed to develop a more
detailed model for the determination of finger ridge counts. We could have
proceeded directly to include additional sources of latent variation or w e could
have attempted to refine the factor structure of the two sources of variation
postulated by HOLTbefore invoking other latent sources. We chose the latter

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course. Guided by biological intuition and a knowledge of previously reported
intercorrelations, we first attempted to specify a plausible factor structure for
the additive genetic effects. As a first approximation, it seemed reasonable to
postulate at least one general additive genetic factor influencing all of the digits,
with other additive factors whose effects were restricted to individual hands
and still others restricted to homologous fingers. As shown in Table 4-c, a model
that included a general factor, two hand factors and five specific finger factors
markedly improved the goodness-of-fit. However, since the ridge counts of
homologous fingers are known to exhibit a high degree of bilateral symmetry,
we constrained the weights on homologous fingers in the general and specific
finger factors to be equal, thus achieving a more parsimonious solution, which
incorporates finger symmetry but still makes allowance for hand asymmetry.
We tested several other constraints on this model including the use of equal
weights for all variables loading on the general and hand factors, but these
modifications significantly worsened the goodness-of-fit. We next proceeded to
model the effect of the uterine environment by first relaxing the constraint that
all of the environmental factor loadings on individual fingers be equal as shown
in Table 4-d. This modification of the model plus the inclusion of a single
general factor to account for correlated effects on individual fingers of the
random environmental variation among individuals resulted (Table 4-e) in
significant improvement in the goodness-of-fit.
The full additive genetic, random environmental model described in Table
4-f accounts for 98% of the variation not explained by the baseline environmen-
tal model, as well as 90% of the variation not explained by the HOLTformulation.
To estimate how much additional improvement might be expected from further
refinement of the factor structure of the additive genetic and environmental
effects, we obtained maximum likelihood estimates of the full 10 x 10 additive
genetic and within-sibship environment covariance matrices which presuppose
no explicit factor structure. These matrices were estimated with the Lisrel
program by recognizing that any Gramian matrix may be decomposed into the
product of a triangular matrix and its transpose. Thus, we proceeded to estimate
simultaneously two 10 X 10 triangular matrices of 55 unconstrained factor
loadings for the additive genetic and environmental effects. The resulting
additive genetic and environmental correlation matrices are given in APPENDIX
11. As shown in Table 4-g, when 110 degrees of freedom were used to fit these
two completely unconstrained additive genetic and environmental matrices,
there was a significant improvement in fit over our full or “rational” model in
which a specific factor structure for the genetic and environmental effects was
specified (xz = 100.1, d.f. 70, P < 0.01). However, when both solutions were
 ANALYSIS OF DIGITAL RIDGE COUNTS 503
compared we found that with the use of just 40 parameters the rational model
accounted for 99% of the variation that was explained by the complete 110
parameter “triangular” model. These observations suggest that, although our
final additive genetic and environmental model (4-f) is still inadequate as judged
by the x’ test, further elaboration of its constituent factor structure is not likely
to explain a substantially greater proportion of the overall variation and cov-
ariation in digital ridge counts.

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Consequently, we next explored the effect of including other general factors
to account for two additional potentially significant latent sources of variation:
additive epistasis and maternal effects. The results of these analyses are sum-
marized in Table 5.
Supplementation of the full additive genetic random environmental model by
ten additional parameters to estimate a general epistatic factor caused a highly
significant improvement in the goodness-of-fit (x2= 29.9, 10 d.f., P < 0.0009),
whereas the addition of a general maternal factor alone resulted in only a
marginal improvement (xz= 19.0, 10 d.f., P < 0.041). However, in the presence
of the general factor for epistasis, the addition of maternal effects did make a
significant further improvement in the model (x’= 26.0, 10 d.f., P = 0.0037) and
yielded a solution that could not be rejected at the 0.05 level, which accounted
for 99% of the variation not explained by the baseline model. The estimated
factor loadings for the final model are given in Table 6 , along with their
associated t-statistics. The substitution of dominance as a latent source of
variation in the place of epistasis produced no obvious difference in fit, confirm-
ing that these two potential sources of genetic nonadditivity cannot be resolved
with data from the offspring of MZ twins alone.
The parameter estimates given in Table 6 can be used to compute ratios that
reflect the contributions of different sources of variation to the ten finger ridge
counts separately or in combination. To achieve this goal one first computes the
phenotypic covariance matrix
Q=M,
+
where A is the y x ( y p) augmented matrix of factor loadings of the latent
sources of variation and resulting residuals. The diagonal elements of Q are the
sums of all sources of variation in the model for each variable.
One may define the coefficients of any linear combination of the observed
ridge counts by a y element vector a Thus, total ridge count would be
I,

represented by a vector of ten units, and the total for the left hand would be
specified by the vector (1111100000). Individual fingers would be specified by a
vector in which all elements were zero, apart from the element corresponding
to the specified finger, which would be unity. The phenotypic variance of the
combination is then
u,2 = a ’Qa.

Thus, we see that ap2for total ridge count includes the covariances between
fingers as well as their variances.
Now suppose we wish to obtain the contribution to a,’ of certain selected
504 R. M. CANTOR ET AL.

TABLE 5

Comparison of fitting identical genetic models to sex-adjusted and transformed

sex-odjusted data

Sources of variation included in model Transformed

Sex-adjusted data ad,usted data
General factor

Maternal

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Additive Random cnvi- Additive environ-
eenetic ronmental epistasis ment d.f. Xd P XL P
~

Triangular Triangular No No 165 203.2 10.024 235.1 <0.001

Full model Full model No No 235 303.1 <0.002 290.5 <0.008
Full model Full model Yes No 225 273.4 <0.015 256.5 <0.073
Full model Full model No Yes 225 284.3 <0.004 275.7 <0.012
Full model Full model Yes Yes 215 247.0 <0.064 238.0 <0.135

columns of A. We define a diagonal selection matrix, A, whose elements are

zero apart from the diagonal elements corresponding to the selected factors
from A. These elements are set to unity.
The contribution of the specified orthogonal factors in the selection matrix to
the phenotypic variation of the combination is now
or2= a 'AAA's.
The proportion of the total variation accounted for by the specified factors, U,"/
up2,may then be computed.
In Table 7, the contribution of common and specific genetic and environmen-
tal factors to the variance of individual fingers to total ridge count and to the
separate totals for left and right hands are given.

DISCUSSION

Data from the families of twins have previously been used for univariate
analyses of a variety of traits, including birth weight (NANCE1979), blood
pressure (EWELL,COREYand WINTER 1978; ROSE et al. 1979c), stature (NANCE,
COREYand EAVES1980), serum cholesterol (CHRISTIAN and KANG 1977; NANCE,
COREYand BOUGHMAN1978), uric acid (RICH, COREYand NANCE1978), immu-
noglobulin levels (ESCOBAR, COREYand BIXLER,1979) and several reproductive
(GOLDEN 1980), dermatoglyphic (NANCE1976; REEDet al. 1979) and psychological
variables (NANCE1977; ROSE et al. 1979a,b; ROSE, BOUGHMANand COREY1980).
The present study demonstrates how this research design can be extended to
permit multivariate analyses of interrelated metric traits.
HOLT'Ssimple two-parameter model for the genetic control of digital ridge
counts was found to account for 78% of the variation in the observed statistics
that was not explained by a random environmental model but did not provide
an adequate explanation for the phenotypic and familial correlations between
fingers. We have tested specific factor patterns for several combinations of
latent sources of genetic and environmental variation and have been abie to
explain the covariance matrices of finger ridge counts by the assumption of a
 ANALYSIS OF DIGITAL RIDGE COUNTS 505
TABLE 6
Factor loadings and random environmental variances for the final model with
their associoted t-statistics
~~~~

Random
Additive genetic Epistatic Maternal environmental
_ _ _ _ _ _
General Hand Finger General General General Specific
(n = 1) (n = 2 ) (n = 5) (n = 1) (n = I) (n = 1) (n = 10)

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Right hand
Thumb AIJ 0.488 -0.245 0.583 0.108 0.506 0.007 0.443
t 9.06 -3.26 16.63 0.82 5.54 0.10 12.43
2nd ‘ZJ 0.672 -0.084 0.154 0.434 0.240 -0.160 0.543
t 6.51 -1.37 0.74 2.49 2.45 -1.74 18.34
3rd A3J 0.678 -0.133 0.303 0.265 0.278 -0.180 0.512
t 9.70 -2.50 6.81 1.55 2.89 -2.13 18.39
4th 0.850 -0.144 0.000 -0.110 0.232 -0.008 0.494
t 17.05 -2.80 0.00 -0.56 2.27 -0.09 20.13
5th 0.683 -0.357 0.390 0.037 0.317 -0.368 0.288
12.79 -5.93 5.90 0.09 3.07 -3.48 2.72
Left hand
Thumb 0.488 0.292 0.583 0.248 0.380 0.158 0.417
t 9.06 3.16 16.63 1.80 3.80 2.14 7.78
2nd ’71 0.672 -0.050 0.154 0.528 0.286 0.051 0.467
t 6.51 -0.49 0.74 3.10 2.89 0.54 10.78
3rd 0.678 0.083 0.303 0.202 0.313 -0.144 0.541
t 9.70 1.21 6.81 1.19 3.32 -1.80 21.78
4th A91 0.850 0.058 0.000 -0.056 0.282 -0.059 0.444
t 17.05 0.89 0.00 -0.29 2.86 -0.75 18.34
5th hl0, 0.683 0.069 0.390 -0.062 0.422 0.147 0.469
t 12.79 0.83 5.90 -0.35 4.53 1.85 16.70
n = number of constituent orthogonal factors.

general additive genetic factor loading on all fingers, two factors loading onto
the fingers of each hand separately and five factors loading onto the homologous
fingers. A more parsimonious and biologically plausible structure includes the
constraint of bilateral symmetry in the general and finger-specific factors. Since
previous analyses have shown that the ridge counts on adjacent fingers are
generally more correlated than are those of nonadjacent fingers (HOLT1968),
we tested the fit of models containing factor structures that allowed for covar-
iation between adjacent fingers. We estimated parameters representing addi-
tional weights on adjacent fingers in the specific additive finger factors, as well
as off-diagonal correlations between the specific finger factors in the 9 matrix,
but neither of these approaches improved the fit. Presumably, the tendency for
the ridge counts of adjacent fingers to be correlated must be explained by the
general genetic factor, where, in our analysis, higher loadings have been esti-
mated for the three middle digits. Although our final model accounts for a large
percentage of the total variation and covariation in digital ridge counts, we
clearly have not exhausted the possibilities for describing the covariance struc-
506 R. M. CANTOR ET AL.
TABLE 7
Percentage contribution of latent sources and their factors to variation in ridge
counts on individual fingers, hands and total ridge count

Epis- Mater-
Additive genetic tatic nal Random environmental
_ _ _ _ _ _
General Hand Finger Total General General General Specific Total
(n = 1) (n = 2 ) (n = 5 ) (n = 8) (n = 1) (n = 1) (n = 1) (n = 10) (n = 11)

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Right hand
Thumb 21.6 5.4 30.8 57.9 1.0 23.2 0.0 17.8 17.8
2nd 43.0 0.7 2.3 46.0 18.0 5.5 2.4 28.1 30.5
3rd 44.7 1.7 10.6 57.0 6.8 7.5 3.1 25.5 28.6
4th 68.6 1.9 0.0 70.5 1.1 5.1 0.0 23.2 23.1
5th 43.7 12.0 14.3 70.0 0.0 9.4 12.7 7.8 20.5
Hand 66.9 5.4 3.7 76.0 3.0 14.6 0.0 6.4 6.4
Left hand
Thumb 22.3 7.9 31.8 62.1 5.7 13.5 2.3 16.3 18.6
2nd 42.6 0.2 2.3 45.1 26.3 7.7 0.2 20.6 20.8
3rd 44.7 0.7 10.6 56.0 4.0 9.5 2.0 28.5 30.5
4th 71.6 0.3 0.0 71.9 0.3 7.9 0.3 19.5 19.9
5th 44.6 0.4 14.5 59.5 0.4 17.0 2.1 21.0 23.1
Hand 67.3 1.2 3.7 72.2 4.3 16.8 0.1 6.5 6.7
Total ridge count

70.6 1.7 3.9 76.2 3.8 16.4 0.1 3.4 3.4

n = number of constituent orthogonal factors.

ture, and it is possible that a nonlinear model could provide a better explanation
for the observed relationship between the magnitude of ridge count correlations
and the physical propinquity of digits on the hand.
A unique feature of our research design is the ability of observations on the
offspring of MZ twins to estimate maternal and nonadditive genetic effects
from observations on individuals who are members of the same generation.
Thus, although we were able to account for 90% of the residual variation beyond
the baseline model by additive genetic effects alone, we also tested for the
presence of dominance, epistatic, maternal and random environmental effects.
The goodness-of-fit and parameter estimates for models including dominance
and epistasis were virtually identical, and it is possible that the inclusion of
data on twins or parent-offspring relationships might allow a clear choice
between these two alternatives (MATHER 1974).
The rationale for the inclusion of maternal environmental effects in our model
is certainly credible, since the dermal ridges are formed during early intrauterine
life. In an overall analysis, we found significant (P < 0.01) evidence for a
maternal effect that accounted for from 5.1 to 23.2% of the variation in the
dermal ridge counts of the individual fingers. Although the maternal factor
loadings were larger for the thumbs and fifth fingers, significant values ( t >
1.96) were estimated for all of the fingers. The intrauterine maternal influence
 ANALYSIS OF DIGITAL RIDGE COUNTS 507
detected in this analysis reflects effects that are common to all pregnancies of
an individual mother as well as to those of her identical twin. Whether the
residual within-sibship environmental variation includes additional intrauterine
influences that are specific to a single pregnancy remains to be determined. In
addition to including systematic variation in the intrauterine environment
attributable to the genotype of the mother, the final model postulates two types
of random environmental variation, some of these effects being specific to

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individual fingers, whereas others are more generalized in their influence.
The percentage of variance explained by the general additive factor is sub-
stantially larger for the summed hand counts than it is for any individual finger,
whereas the proportion is larger still for total ridge count. In contrast, the
proportions of variation in summed hand and total ridge count that are ex-
plained by the general factors for epistasis, maternal effects and random
environmental effects fall within the range of values exhibited by individual
fingers. In addition, the specific random environmental effects on the hand and
total ridge counts are generally much lower than those observed for individual
fingers. These findings imply that the environmental effects on individual finger
ridge counts are largely uncorrelated, whereas the additive genetic effects are
highly correlated.
The application of maximum likelihood confirmatory factor analysis to in-
vestigate the genetic determination of multivariate traits permits the specifica-
tion and testing not only of the number of factors but their explicit structure
and thus has compelling advantages over exploratory factor analysis where the
only hypotheses that can be tested concern the number of factors present.
Statistical tests of proposed models, however, are based on large sample theory
and depend upon the assumption of multivariate normality. Although the
number of half-sibships included in our sample is relatively small, the analysis
was based on the counts from more than 5000 fingers, and among the marginal
distributions of ridge counts for individual fingers, only those of the thumbs
showed statistically significant departures from normality (Table 3). TO inves-
tigate the possible influence that departures from multivariate normality may
have had on the conclusions drawn from our model fitting, we repeated the
analyses after transforming the marginal distributions to normality using the
power transformation proposed by Box and Cox (1964). Although this procedure
does not guarantee multivariate normality, it may provide some insight into the
magnitude and direction of biases arising from failure of the normality assump-
tion. The results of the analyses of the transformed data are given in the last
two columns of Table 5. With these data, comparable models showed a modest
improvement in the goodness-of-fit except for the full triangular decompositions
of additive genetic and environmental effects where the variation and covaria-
tion of the transformed scores were less well explained. Since this model
completely exhausts the ability of additive genetic and random environmental
factors to account for the pattern of covariation, its failure tends to support the
view that latent sources of variation other than additive genetic and random
environmental effects do in fact contribute to providing a more adequate
explanation of the covariance structure of digital ridge counts. The inclusion of
508 R. M. CANTOR ET AL.
a general epistatic factor, alone or in combination with a general maternal
factor, resulted in statistically significant improvements in the goodness-of-fit
with both the raw and transformed data. However, with the transformed data,
the addition of the maternal factor resulted in a statistically significant improve-
ment in fit (P < 0.05) only in the presence of the general epistatic factor. The
general agreement between the conclusions drawn from the two approaches
suggests that the analysis is sufficiently robust to tolerate the modest distribu-

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tional departures observed in the present data. In view of the small size of the
observed maternal and epistatic effects it would clearly be desirable to replicate
these findings with other data sets to be sure that they do not reflect sampling
error or a subtle residual bias arising from failure of the data to conform to the
assumption of multivariate normality.
Previous workers have reported that, as the number of variables included in
a confirmatory factor analysis rises, it becomes increasingly difficult to specify
causal factor models that cannot be rejected at conventional levels of statistical
significance (MARTIN,EAVESand FULKER1979). Our data set permitted the
calculation of 275 independent variances and covariances, and our relative
success in explaining the interrelationships implied by this complex pattern of
covariation with a genetic model that included only 55 unknown parameters
may well be attributable to the nature of the variables and the structure of the
data set. Because of the natural grouping of the variables into hands and
homologous pairs of fingers and the strong tendency for bilateral symmetry in
the digital ridge counts, biological intuition appears to have been a reasonable
guide for postulating factors that make a major contribution to the pattern of
covariation.
The ready availability of software for fitting structural models to multivariate
data encourages the search for simple paradigms in which biological consider-
ations can serve as a reliable guide to the formulation of plausible causal
models. Data from twins and their offspring are especially valuable for such
studies because they permit the detection of latent sources of variation that
cannot be resolved by studies of nuclear sibships. As the present work suggests,
small, but potentially important, biological effects can be identified with this
research design. The methods we have employed may also prove to be of value
in experimental systems for the genetic analysis of interrelated biochemical,
morphogenic or physiological traits in which the knowledge of metabolic
pathways, developmental sequences or regulatory control mechanisms may
permit the formulation of explicit hypotheses about the interrelationships
between multiple variables. Dermal ridge counts constitute a multivariate sys-
tem that is largely free from many of the scalar problems associated with other
variables and that carries real potential for helping to chart the course of early
development. For this reason we believe they remain valuable objects of genetic
investigation that have still to be exploited to the fullest.

This is paper #138 from the Department of Human Genetics of the Medical College of Virginia.
The work was supported in part by National Institutes of Health grants HD 15838, HD 10291 and
GM 21045. Reprint requests should be addressed to the Medical College of Virginia.
 ANALYSIS OF DIGITAL RIDGE COUNTS 509
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 APPENDIX I

Mean sums of squares and cross products of sex-adjusted digital ridge counts
from multivariate nested analyses of variance of data from the offspring of
MZ twins

2.040 Among half-sibships: Male twin kinships

1.106 1.643
1.358 1.436 2.077 bz 2.567 b3 4.790
1.234 1.566 1.754 2.291

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1.057 1.357 1.309 1.717 2.158 BA 0.154 BAA 0.809 Bo = 0.875
1.777 1.044 1.434 1.205 1.172 2.204
0.926 1.398 1.367 1.450 1.192 1.068 1.539 P-M= 0.624 PEW = 1.OOO
1.169 1.447 1.878 1.713 1.140 1.224 1.398 2.191
0.890 1.272 1.438 1.775 1.400 1.014 1.247 1.431 1.698
0.669 1.094 1.171 1.307 1.590 0.946 1.115 1.181 1.168 1.788 d.f. = 47

1.319 Between sibships-within half-sibship: Male twin kinships

0.727 1.420
0.722 0.860 1.170 bi = 2.234
0.642 0.757 0.789 1.042
0.800 0.651 0.818 0.817 1.294 PA = 0.972 BAA = 0.925 Po = 0.874
1.152 0.814 0.807 0.733 0.805 1.432
0.630 0.980 0.675 0.587 0.533 0.669 1.109 BM = 0.669 PEW = 1.000
0.548 0.812 0.705 0.587 0.587 0.695 0.677 0.884
0.658 0.540 0.756 0.679 0.792 0.808 0.594 0.549 0.178
0.886 0.860 0.893 0.771 1.158 0.990 0.705 0.674 0.928 1.491 d.f. = 48

0.581 Within sibships: Male and female twin kinships, pooled

0.223 0.553
0.190 0.266 0.642 PA 1.414 BAA= 1.515 Po = 1.515
0.204 0.195 0.269 0.537
0.197 0.215 0.215 0.282 0.571 psw = 1.000
0.337 0.182 0.200 0.246 0.158 0.564
0.165 0.293 0.320 0.267 0.233 0.198 0.646
0.196 0.296 0.363 0.281 0.223 0.214 0.323 0.647
0.208 0.274 0.291 0.396 0.345 0.254 0.287 0.351 0.703
0.247 0.247 0.210 0.291 0.371 0.251 0.194 0.214 0.370 0.621 d.f. = 307

0.912 Between sibships-within half-sibship: Female twin kinships

0.542 1.072
0.291 0.413 0.790 bs = 2.790
0.363 0.579 0.669 0.992
0.384 0.496 0.377 0.570 0.823 PA 0.967 PAA 0.929 PD 0.871
0.458 0.417 0.279 0.386 0.285 0.688
0.685 0.946 0.605 0.781 0.513 0.508 1.391 psw = 1.000
0.341 0.496 0.632 0.667 0.330 0.280 0.776 1.022
0.286 0.515 0.523 0.776 0.468 0.245 0.717 0.591 0.911
0.346 0.477 0.235 0.429 0.593 0.258 0.511 0.215 0.368 0.773 d.f. = 59

2.176 Among half-sibships: Female twin kinships

1.217 2.359
1.199 1.628 1.962 bs = 2.626 bs 4.898
1.287 1.880 1.586 2.276
1.272 1.449 1.288 1.739 2.134 Pa = 0.648 PAA = 0.804 PD = 0.843
1.807 1.244 1.034 1.194 1.418 2.365
1.140 1.890 1.507 1.651 1.287 1.174 1.970 DM = 0.542 PEW = 1.000
1.223 1.697 1.583 1.601 1.435 1.316 1.438 1.921
1.168 1.596 1.347 1.841 1.602 1.197 1.377 1.435 1.922
1.015 1.400 1.033 1.634 1.826 1.321 1.208 1.425 1.598 2.172 d.f. = 58

511
512 R. M. CANTOR ET AL.

APPENDIX I1

Genetic and environmental correlation matrices for digital ridge counts

Additive genetic correlation matrix

RT R2 R3 R4 R5 LT L2 L3 L4 L5
Right hand Thumb 1.00
2nd digit 0.61 1.00

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3rd digit 0.63 0.84 1.00
4th digit 0.60 0.83 0.84 1.00
5th digit 0.58 0.67 0.72 0.78 1.00 Symmetric
Left hand Thumb 0.89 0.62 0.63 0.61 0.43 1.00
2nd digit 0.58 0.99 0.83 0.85 0.67 0.60 1.00
3rd digit 0.63 0.82 0.95 0.87 0.62 0.70 0.83 1.00
4th digit 0.52 0.85 0.84 0.97 0.72 0.60 0.89 0.90 1.00
5th digit 0.66 0.66 0.68 0.85 0.90 0.60 0.70 0.71 0.83 1.00
~-
Random environmental correlation matrix

RT R2 R3 R4 R5 LT LZ L3 L4 L5
Right hand Thumb 1.00
2nd digit 0.02 1.00
3rd digit 0.01 0.22 1.00
4th digit 0.31 0.20 0.30 1.00
5th digit 0.22 0.03 -0.06 0.43 1.00 Symmetric
Left hand Thumb 0.03 0.01 0.03 0.11 0.46 1.00
2nd digit -0.11 -0.02 0.05 0.02 0.09 0.10 1.00
3rd digit -0.01 0.23 0.22 0.19 0.10 -0.11 -0.04 1.00
4th digit 0.33 -0.06 0.01 0.40 0.17 -0.06 -0.72 -0.06 1.00
5th digit -0.42 0.06 -0.03 0.30 0.32 0.01 -0.17 0.00 -0.08 1.00
RT, R2, . ., R5, LT, L2. . ., L5 refer to thumbs and digits of right and left hands, respectively.