Human Genetics

Concepts and
Applications 11th
Edition Ricki
Lewis
0076701654
9780076701650
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Chapter 7 Multifactorial Traits
READINGS

Chapter Opener
The Complex Genetics of Athletics

Clinical Connection 7.1

Many Genes Control Heart Health

CHAPTER OVERVIEW

The traits that Gregor Mendel followed in pea plants were determined by
single genes with little environmental input. Most inherited traits are
multifactorial, determined by one or more genes plus environmental
influences. This chapter discusses inheritance of polygenic traits such as
fingerprint patterns, height, and skin color. Most polygenic traits are also
multifactorial because of environmental effects. Predicting recurrence
risks for multifactorial traits is more challenging than doing so for
Mendelian traits. Several measurements assess multifactorial traits.
Empiric risk is based on population incidence. Heritability measures the
genetic contribution to variation in a multifactorial trait. Adopted
individuals and twins are useful in assessing the inherited contribution.
Genome-wide association studies follow many genetic markers (such as
single nucleotide polymorphisms or copy number variants) in two large
groups, one with a trait and one without, to detect candidate genome
regions that might harbor genes that contribute to the phenotype. Study
designs to assess multifactorial traits include cohort, case-control,
affected sibling pair, and homozygosity mapping. Body weight is a
polygenic, multifactorial trait that illustrates chapter concepts.

CHAPTER OUTLINE

7.1 Genes and the Environment Mold Traits

1. Most traits are determined by multiple genes and environmental effects.

2. Disorders caused by single genes are also usually influenced by environmental
factors and other genes.
3. Polygenic traits are determined by more than one gene, each contributing a small
effect.
4. Multifactorial traits are determined by interactions between a gene or genes and the
environment, and do not show Mendelian ratios.
5. The relative contribution of each gene to a multifactorial trait varies; some exert a
major influence while others only a minor contribution.
6. Polygenic traits with no environmental influence are rare.

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7.2 Polygenic Traits Are Continuously Varying

1. Polygenic traits usually produce a continuum of phenotypes.

2. Individual genes of a polygenic trait follow Mendel’s laws, but together do not exhibit
Mendelian ratios.
3. Quantitative trait loci are DNA sequences that contribute to polygenic traits.
4. A bell-shaped curve represents the distribution of phenotypes of a polygenic trait.

Fingerprint Patterns

1. Dermatoglyphics is a technique that compares fingerprint patterns.

2. Fingerprint pattern is a multifactorial trait. Environmental differences during prenatal
development cause different fingerprints in identical twins.

Height

1. Human height in a population varies continuously in a bell-shaped distribution.

2. Environmental influences on height include food availability, overall health, and
factors such as war that in the past disproportionately killed men, removing the tallest
individuals from the population.
3. At least 50 genes affect height.

Skin Color and Race

1. More than 100 genes affect pigmentation in skin, hair, and the irises.
2. All people have about the same number of melanocytes. Differences in skin color
arise from the number and distribution of melanin pieces in the uppermost skin
layers.
3. Exposure to sunlight darkens skin.
4. Skin color is one physical trait out of many. It does not effectively indicate a person’s
genetic ancestry, medical risks or response to medication.
5. Basing which drugs to prescribe for a particular individual is more accurately based
on drug metabolism gene variants than on skin color genes.

7.3 Methods to Investigate Multifactorial Traits

Empiric Risk

1. Empiric risk is not calculated, but is an observed population statistic.

2. Incidence is the number of new cases of a disease occurring during a given time
period.
3. Prevalence is the total number of cases of a disease in a population at a specific
time.
4. Empiric risk is used to predict recurrence of a multifactorial trait in a family.
5. Empiric risk increases with severity of the trait, number of affected relatives, sex of
family members, and increasing relatedness to an affected individual.

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Heritability

1. Heritability estimates the proportion of variation in a population for a multifactorial

trait that is due to genetic differences, at a particular time. It equals one for a trait
entirely determined by genes, and less than 1 if environmental influences contribute.
A changing environment can alter heritability.
2. Heritability increases for more closely related individuals. It is estimated by
comparing the actual proportion of pairs of people related in a certain way to the
theoretical coefficient of relatedness that indicates the proportion of genes relatives
share for a Mendelian trait.
3. Epistasis influences heritability.
4. Narrow heritability considers only additive recessive effects. Broad heritability also
considers rare dominant alleles and epistasis.
5. Analysis of multifactorial inheritance has widespread application in agriculture.
6. Studying multifactorial traits in humans pools data from many families.

Adopted Individuals

1. To assess the influence of heredity and the environment, traits of an adopted child
can be compared with those of the adoptive and biological parents.

Twins

1. Twin studies separate genetic and environmental contributions to a phenotype.

2. Traits more frequent in both identical (MZ) twins than in both fraternal (DZ) twins
have a significant genetic component.
3. The concordance of a trait is the percentage of pairs in which both members express
the trait.
4. Studying MZ twins separated at birth offers insights into nature vs. nurture.

Genome-Wide Association Studies

1. A genome-wide association study (GWAS) compares many markers that pepper the
genome in two large groups of individuals, tracking presence or absence of a
particular phenotype to identify genome parts that contribute to the trait or condition.
2. Markers include single nucleotide polymorphisms (SNPs), copy number variants
(CNVs), gene expression profiles, and epigenetic patterns (methylation).
3. Tag SNPs represent haplotypes and reduce the number of markers needed to be
analyzed to track a trait.
4. GWAS findings must be validated in different, independent populations.
5. A cohort study tracks multifactorial traits in a group over time. A case-control study
follows two groups matched for many traits but differing for one, looking for shared
SNP patterns. An affected sibling pair design identifies SNPs that affected siblings
share but that pairs in which only one sibling is affected do not. Homozygosity
mapping identifies parts of the genome that have adjacent regions of homozygous
alleles reflecting shared ancestry (consanguinity).
6. Limitations of GWAS include inability to distinguish cause and effect, the identified
parts of the genome contribute only slightly to risk, patient selection may introduce
bias, and genetic heterogeneity, late onset of disease, incomplete penetrance and
phenocopies can complicate interpretation of results.
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7.4 A Closer Look: Body Weight

1. Body weight (measured by body mass index [BMI]), is a polygenic multifactorial trait.
2. Overweight and obesity raise risk of developing a number of diseases.
3. GWAS have been used to reveal genes that influence BMI and may be useful in
developing therapeutic approaches to weight control.

Genes That Affect Weight

1. Leptin, a protein hormone, stimulates the hypothalamus to suppress appetite and

increases metabolic rate.
2. Ghrelin, produced in the stomach, increases appetite.
3. Many genes contribute to maintaining weight. GWASs are helpful in identifying them.

Environmental Influences on Weight

1. Heritability of obesity is about 75 percent but of BMI is lower, suggesting genes are
more important in those who gain weight easily.
2. Studies on the inhabitants of Naura, Pima Indians of Arizona and Mexico, and very
low birth weight babies demonstrate the epigenetic role of environment in controlling
body weight.
3. The gut microbiome influences the number of calories extracted from food.

IDEAS FOR CLASSROOM DISCUSSION

1. List traits and anatomical measurements in the class and construct frequency
distributions. Examples include BMI, height, fingerprint patterns (see “Fingerprint
Ridge Count. A polygenic trait useful in classroom instruction.” Mendenhall, G,
Mertens, T., and Hendrix, J. 1989. The American Biology Teacher, 52(4), 203-207),
digit ratios, relative limb lengths, and distance between facial features.
2. Discuss the inheritance patterns of the conditions mentioned in the chapter: lung
cancer, type 2 diabetes mellitus, migraine, heart health, neural tube defects, pyloric
stenosis, and obesity. Review tables of contents for the American Journal of Human
Genetics to identify other multifactorial traits or conditions.
3. Look at medical journals and identify studies that report finding an association with, a
correlation to, and a cause of a disease.
4. Discuss why human genome or exome sequencing is replacing GWAS in identifying
genes.
5. Look at genetics journals and identify studies that use methods discussed in the
chapter (adoptee studies, twin studies, GWAS, cohort, case-control, and affected
sibling pair analysis). Discuss how these techniques can be combined.
6. Compile a list of genes that might affect body weight.

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DNA and Dating: Buyer Beware

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WEBSITES

Observable Human Characteristics

http://learn.genetics.utah.edu/content/inheritance/observable/

Minnesota Center for Twin and Family Research

https://mctfr.psych.umn.edu/

MI Genetics Resource Center

https://migrc.org/TeachersAndStudents/MultifactorialTraits.html

ANSWERS TO REVIEW QUESTIONS

1. Individual genes that contribute to multifactorial traits follow Mendel’s laws. Their
effects are additive, but not necessarily evenly so.

2. Severity of cystic fibrosis reflects regularity of postural drainage exercises, drugs

taken, and the infections to which an individual is exposed.

3. A Mendelian multifactorial trait is caused by one gene and environmental influences;

a polygenic multifactorial trait is caused by more than one gene and the environment.

4. No

5. The bell curve means that genotypes with many heterozygotes are more common
than genotypes with more homozygotes—irrespective of the trait.

6. Heritability for skin color changes because duration and intensity of sun exposure
changes.

7. The twins are DZ and so they inherited different combinations of the parents’ genes
that affect skin color.

8. More genotypes including many heterozygous genes specify medium brown than
more extreme colors.

9. Eye color has a greater heritability because the environment has a greater influence
on height than on eye color.

10. a. Empiric risk is based on observations of trait prevalence in a particular

population or group of individuals.
b. Twin studies approximate the degree of heritability by comparing trait prevalence
among pairs of MZ twins to DZ twins. The greater the difference, the higher the
heritability.
c. Inherited traits may stand out in an adoptee’s family where each member lives in
the same environment, but the adopted individual has different genes.

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 d. GWASs establish correlations between particular gene variants or sections of
chromosomes (haplotypes) and inheritance of certain traits or susceptibilities.

11. Cardiovascular functioning: apolipoproteins, lipoprotein lipase, and fibrinogen. Body

weight: leptin, neuropeptide Y, and ghrelin.

12. A GWAS indicates an association, it does not demonstrate causation and so actual
gene annotation is necessary to assign a specific gene to a specific trait or illness.

13. Genome sequencing will identify the genes that GWASs only point to.

ANSWERS TO APPLIED QUESTIONS

1. Heritability is not the degree to which a trait is inherited. It is the degree to which
heredity contributes to the variability of a trait.

2. Race (skin color) is not the most accurate way to predict drug response. Genes that
control metabolism of the drug are.

3. A genetic change in a population would not occur in so short a time. Therefore, the
cause for the increase in obesity is largely environmental, perhaps acting on inherited
susceptibilities.

4. The heritability, 0.54, suggests about equal influence of genes and the environment.

5. Several narrow, plus few genes with greater effect is broad.

6. Compare SNP patterns between 500 people who have restless leg syndrome (RLS)
and 500 people who do not using a case-control design. Each individual in the RLS
group is matched with an individual in the control group who shares as many
characteristics as possible, including age, sex, activity level, and environmental
exposures.

7. GWAS in people with early negative experiences compared to unaffected controls.

8. In most cases of age-related macular degeneration, no single gene exerts a

powerful causative effect.

9. It would be important to test the drug on people whose high LDL is not due to
controllable environmental risk factors, such as poor diet.

10. Pulmonary fibrosis is considered a disease of aging because the environmental

causes—viral infections and exposure to inhaled irritants—accumulate with time.

11. Alter the microbiome to resemble what it becomes following weight loss surgery.

ANSWERS TO WEB ACTIVITIES

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1. Mutations in p53 impair DNA repair. Mutations in TERT disrupt telomere shortening.
Mutations in IL1A and IL1B affect the immune response, which may allow cancer cells
to persist. Mutations in CYP1A1 affects cell division rate. Mutations in EPHX1 affect
detoxification of oxidants. Mutations in CRR9 block apoptosis.

2. Protein content of cow milk http://pubs.ext.vt.edu/404/404-084/404-

084_pdf.pdfAnswers; Beef tenderness http://extension.missouri.edu/p/G2910; Grain
yield per wheat plant
http://www.ccsenet.org/journal/index.php/jas/article/view/12163

3. Injuries, violence, and infections have low heritabilities. Certain congenital

anomalies, heart diseases, and cancers would have higher heritabilities.

4. Apolipoprotein E transports cholesterol. The LDL receptor is a cell surface protein

that regulates endocytosis of LDL. Apolipoprotein A’s exact function is unknown but
may be involved in clotting. Angiotensinogen regulates blood pressure. Beta-2
adrenergic receptor dilates blood vessels, improving circulation. Toll-like receptor 4
controls immune system response to certain bacterial infections. C-reactive protein
controls inflammation.

5. Eating disorders do not have a large genetic component.

ANSWERS TO CASE STUDIES AND RESEARCH RESULTS

1. The experimental results support that Parkinson disease is largely caused by

environmental factors. Good news, because exposure to toxins is controllable.

2. This study is poorly done because the characteristics are self-reported and therefore
subjective. In addition, close relatives share environments as well as genes. The
study was therefore flawed, and heritability indicates that genes exert a greater
influence than environmental factors—not that genes cause a life of crime.

3. The findings can be used to identify patients whose heart health might benefit from
their taking anti-inflammatory drugs.

4. ACE controls blood pressure and the kidneys’ handling of salt. Many people regard
genetic testing to choose a child’s sport as a bad idea. Certain genotypes are
associated with endurance during extreme sports, such as mountaineering.

5. No. Concordance for DZ twins is very low, so the genetic contribution to anorexia is
small.

6. GWAS

7. Researchers search for SNPs that most siblings with schizophrenia share but siblings
who do not both have the condition do not share. These genomic regions may contain
genes that contribute to schizophrenia.

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8. The BMI indicates a genetic component to body weight, but the fact that exercise
reduced BMI indicates an environmental component too. It would be important to test
the same people before and after exercise intervention to separate nature from
nurture.
ANSWERS TO CLINICAL CONNECTION 7.1
1. Follow a heart healthy diet, exercise regularly, and do not smoke.
2. Lipid metabolism, blood clotting, inflammation, and leukocyte adhesion
3. A statin blocks the body’s production of cholesterol, so if used in conjunction with a
heart-healthy diet can substantially lower serum cholesterol.
4. Some people think that statins are prescribed too much. Some practitioners do
prescribe them without considering a patient’s family history, or how much a patient
has tried to lower cholesterol through non-pharmaceutical approaches like diet and
exercise.

ANSWERS TO KEY CONCEPTS QUESTIONS

7.1
1. Polygenic traits do not exhibit Mendelian ratios because each gene contributes a
small amount to the phenotype and influences of individual genes may not be
equal.
2. Multifactorial traits are determined by one or more genes plus environmental
influences.
3. No

7.2
1. Quantitative trait loci are genes that contribute to polygenic traits.
2. Continuously varying refers to varying degrees of a quantitative phenotype, such
as height or skin color.
3. In the classic bell curve, individuals who are heterozygous for many genes are
more common, and therefore form the peak of the curve. Homozygotes are less
common and are represented in the two tails.
4. Fingerprint patterns count the numbers of ridges. Height can be quantized to
reveal the polygenic underpinnings by measuring people in inches or
centimeters. Skin color is assessed by degree of darkness.

7.3
1. Empiric risk is the probability that a particular multifactorial trait will occur in a
particular individual based on the incidence of that trait in the person’s
population.
2. Heritability estimates the proportion of variation in a population, at a particular
time, for a multifactorial trait, that is due to genetic differences.
3. The coefficient of relatedness indicates how many gene variants on average two
individuals related in a particular way should share if they are inherited as
Mendelian traits, offering a way to compare what is actually observed.
4. Adopted individuals hold environment constant with adopted siblings while
genetics differs. MZ twins are more likely to share traits than DZ twins so a trait
that is more prevalent among MZ twin pairs than DZ pairs indicates a larger
genetic component.

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 5. GWASs can identify gene variants that contribute to a trait and identify regions of
the genome where causative or contributory genes lie.

7.4
1. Leptin, a protein hormone, stimulates the hypothalamus to suppress appetite and
increases metabolic rate. Ghrelin, produced in the stomach, increases appetite.
Genes involved in inflammation and the immune response may also affect body
weight.
2. The fact that heritability of BMI is lower than that of obesity means that the
genetic contribution to weight is greater in people who gain weight easily.
3. Environmental influences on weight appear suddenly in a population compared
to genetic changes.

ADDITIONAL QUESTIONS

1. Lydia and Reggie grew up poor in New York City in the 1960s. Both went for free to
the City University of New York, then to medical school in Boston, where they met.
Today, each has a thriving medical practice, and they are parents of 18-year-old
Jamal and 20-year-old Tanya. Jamal, who is taking a genetics class, wonders why
he and Tanya do not resemble each other, or their parents, for some traits. Lydia and
Reggie are short, 5′2″ and 5′7″ respectively, and each has medium brown eyes and
skin and dark brown hair. Tanya and Jamal are 5′8″ and 6′1″, respectively, and were
often in the highest height percentiles since they were toddlers. Jamal has very dark
skin, darker than his parents’ skin, while Tanya’s skin is noticeably lighter than that of
either parent. Tanya’s eyes are so dark that they appear nearly black.
a. Why might Tanya’s eyes appear darker than her parents’ or brother’s eyes?
b. How can Jamal’s skin be darker than that of his parents, and Tanya’s be lighter?
c. Which of the traits considered do environmental factors most influence?
d. What is the evidence that Jamal and Tanya’s great height is due to
environmental and genetic factors?
e. Which of the four traits has the highest heritability?

2. “Elite controllers” are people with HIV infection whose immune systems keep levels
of the virus extremely low. Researchers are conducting a genome-wide association
study of these people. How might the results of this study be used?

3. Researchers compared the expression levels of 9,156 genes that affect drug
metabolism among 60 mother-father-child trios from Utah who were Caucasian, and
30 similar families who were black and from Nigeria. About 5 percent of the genes
differed significantly in expression between the two groups. What further information
would be helpful in applying this information in prescribing drugs?

4. A study is examining the expression of certain genes in people about to undergo

gastric bypass weight loss surgery to see if these patterns predict individuals most
likely to benefit by achieving long-term weight loss.
a. Name three genes, or types of genes, that might provide valuable information for
this analysis.
b. What is a limitation of this study design?
c. Do you think that this study has value?
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5. When levels of the air pollutant ozone exceed a certain level⎯such as in cities with a
lot of automobile traffic on hot days⎯people with asthma are more sensitive to the
environmental agents that trigger asthma than on other days. Devise an experiment
to determine whether experiencing breathing difficulties in response to high
atmospheric ozone levels is inherited.

ANSWERS TO ADDITIONAL QUESTIONS

1. a. Topography of back of iris intensifies the color, or Tanya inherited dark pigment
alleles from each parent.
b. Different allele combinations
c. Height
d. Height is genetically determined as evidenced by Jamal and Tanya’s above-
average height since early childhood. Effect of diet is seen in their greater height
compared to the parents, who did not eat as well.
e. Eye color

2. Results may be used in basic research to identify new drug targets, and perhaps to
predict which HIV-infected individuals are at higher risk of progressing to AIDS or
worsening.

3. Results of validation studies using larger samples and different population groups

4. a. Genes affecting appetite, satiety, how much energy is extracted from food, and
fat storage.
b. The patients should be as alike, in terms of health history, as possible.
Comparing the microbiome prior to surgery is important too.
c. Knowing the likelihood that an invasive medical procedure like gastric bypass will
work is important.

5. Study MZ twins with asthma who live in areas that differ in degree of air pollution.

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