Original Research

Association Between COL5a1, COL11a1, and

COL11a2 Gene Variations and Rotator Cuff
Tendinopathy in Young Athletes
Yasser Alakhdar, PhD,* Jill Cook, PhD,† Diana Gallego, PhD,‡ Felipe Querol, MD,* Iván Chulvi-Medrano, PhD, RN,§
Antonio Alberola, MD,{ and Sergio Hernández-Sánchez, PhD║

Abstract
Objective: Tendinopathy is a prevalent condition in young athletes and in older nonathletic people. Recent tendinopathy research
has shown a growing interest in the role played by genetic factors, basically genes involved in collagen synthesis and regulation, in
view of collagen disorganization typically present in tendon pathologies. Design: A case–control, genotype–phenotype associ-
ation study. Setting: La Ribera Hospital, Valencia, Spain. Participants: A group of 137 young athletes (49 with rotator cuff
tendon pathology and 88 healthy counterparts) who played upper-limb–loading sports were clinically and ultrasound (US) assessed
for rotator cuff tendinopathy were included. Intervention: Genetic analysis was performed to determine whether there was a
relationship between rotator cuff pathology and the genotype. Main Outcome Measures: We hypothesized that the following
single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907 would
be associated with rotator cuff tendinopathy. Results: A direct relationship between CC genotype and bilateral US pathological
images was statistically significant (x2 5 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a
Cramer’s v of 0.26. Conclusion: A significant association was found between COL5a1 rs12722 genotype and rotator cuff
pathology, with the CC genotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology.
Key Words: tendon injury, polymorphism, risk factor, rotator cuff
(Clin J Sport Med 2021;00:1–5)

INTRODUCTION tendinopathy increases with overhead movements and in-

Rotator cuff tendinopathy is a common condition characterized
by a disrupted structural organization of tendon fibers that can
lead to pain and dysfunction1,2 and may eventually require
surgery.3 Prevalence increases with age, but it is also seen in
younger athletes exposed to shoulder load during sport.4 It most
often affects the dominant shoulder but can involve both shoulders
even if loads are different. This suggests that there are prime
movers of the condition; these may include systemic conditions
such as hyperglycemic values,5 genetics,6,7 and cytokines.8
Prevalence of rotator cuff tendinopathy seems to increase with
aging9,10 at a rate ranging between 0.3% to 5.5% and a
prevalence of between 2.4% and 21% across all age groups.11
Shoulder injuries are highly prevalent in athletes12,13
because of repetitive movements in sport. The risk of
Submitted for publication July 19, 2020; accepted March 25, 2021.
From the *Department of Physiotherapy, University of Valencia, Valencia, Spain; †La
Trobe Sport and Exercise Medicine Research Centre, Faculty of Health Science, La
Trobe University, Victoria, Australia; ‡Department of Physiotherapy, Faculty of
Health, European University, Valencia, Spain; §Physical and Sports Education
Department, Faculty of Physical Activity and Sport Sciences, University of Valencia,
Valencia, Spain; {Department of Physiology, University de Valencia, Valencia, Spain;
and ║Center for Translational Research in Physiotherapy, Department of Pathology
and Surgery, Physiotherapy Area, Miguel Hernandez University, San Juan, Alicante,
Spain.
The authors report no conflicts of interest.
Corresponding Author: Iván Chulvi-Medrano, PhD, RN, Physical and Sports
Education Departament, Faculty of Physical Activity and Sport Science, University of
Valencia, Valencia 46010, Spain (Ivan.chulvi@uv.es).
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
http://dx.doi.org/10.1097/JSM.0000000000000937
creases the risk of shoulder tendinopathy 4-fold compared
with a control group.14 It has been suggested that repetitive
microtrauma and intrinsic factors such as anatomy, genetics,
or metabolic disorders could explain the presence of
tendinopathy.15
In addition, aging is one major contributing factor to
develop tendinopathy,16 and it has been reported that
throughout life exists an increased prevalence of tendinopathy
with age.9,10
Other major contributing factor to develop tendinopathy is
genetics, and recently genetic markers on collagen have also
been associated with the Achilles tendon.17
Collagen is the principal component of the tendon
extracellular matrix (ECM), and its function is related to the
formation of fibril and microfibril substances in the ECM,
playing an important role in determining the specific
properties of each tissue.18 Thus, the rotator cuff may also
be affected by similar genetic factors. The influence of genetics
on traits that favor injury has been studied, and variations in
the genetic component are analyzed using polymorphisms that
could explain the predisposition to ligament and tendon
injuries. In this sense, recent studies showed that polymor-
phisms within alpha 1 chains of types I (COL1A1) and V
(COL5A1) collagen, growth and differentiation factor 5
(GDF5), and matrix metalloproteinase 3 (MMP3) genes were
associated with tendon and/or ligament injuries.17,19–23
Therefore, the aim of this study was to examine the
prevalence of genetic polymorphisms (COL5A1 rs12722,
COL11A1 rs3753841, COL11A1, rs1676486, and CO-
L11A2 rs1799907) associated with rotator cuff tendinopathy

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Y. Alakhdar et al. (2021)
Clinical Relevance
Relationship between specific gene-related injuries in rotator
cuff pathology could let to develop injury prevention
programs in athletes that participate in shoulder-specific
sports with high joint overstress.
clinically and sonographically diagnosed in a sample of young
athletes. We hypothesized that there is a positive association
between COL11A1 rs3753841, COL11A1 rs1676486, CO-
L11A2 rs1799907, and COL5A1 rs12722 polymorphisms
and increased risk of rotator cuff tendinopathy in the young
athletic population.
METHODS
Patients
A case–control study was conducted following the guidelines
provided by the strengthening the reporting of genetic
association studies.24 Participants were recruited through
information sessions from January to June 2015. A sample of
137 participants (mean age 23.1 6 5.5 years, 77 men and 60
women) were selected based on their participation in upper-
limb–loading sports, playing more than 4 hours a week for
more than 2 years. Sports were classified as contact or
throwing sports, both involving stress-loaded shoulder
movements. Participants were excluded if they had undergone
shoulder surgery, suffered systemic inflammatory conditions,
breast cancer, or had taken fluoroquinolones or corticoste-
roids in the previous 6 months. The study protocol was
approved by the Human Research Ethics Committee of the
University of Valencia (H1409657453224). All participants
gave informed consent.
Procedures
In the first visit to the laboratory, anthropometric data
including height, weight, and body fat percentage [bioelectric
impedance (Tanita BC 418 MA)] were collected. Lifestyle
habits, clinical history, and sports participation for each
participant were also recorded. Participants’ second visit
involved the medical examination of their shoulder by a sports
medicine physician, and each participant underwent an
ultrasound (US) examination of the rotator cuff (FUJIFILM
SonoSite NanoMax US system). All subjects diagnosed with
tendinopathy were image assessed by an experienced US
technician. The rotator cuff structures were US examined
using standardized protocol described by Martinoli et al.25
The integrity of the cuff and intratendinous imaging
abnormalities based on an increased diameter relative to
normal, hypoechogenic zones and/or evidence of partial or
total tears was recorded.26,27 The physical examination of
shoulder laxity using the Beighton test28 was conducted.
Finally, all participants completed the Disabilities of the Arm,
Shoulder, and Hand (DASH) questionnaire.29 The US
measurements were performed by a physician with more than
20 years of experience in locomotor/musculoskeletal system
US. When performing the blood analysis after the imaging
study, blinding was performed to reduce bias. Moreover, the
preliminary results of the US study were not available to the
Copyright © 2021 Wolters Kluwer Health, Inc. Unauthorized reproduction of this article is prohibited.
Clin J Sport Med
personnel in charge of performing the blood sample study.
The blood analysis was coded by numerical seriation to blind
the sample for analysis.
Blood Collection
A 4.5-mL blood sample was collected by venipuncture in the
vein of the forearm and extracted using ethylenediaminetetra-
acetic acid Vacutainer tubes. The blood samples were stored at
4°C during the experimental protocol until subsequent
transport and storage. They were then stored at 280°C for
2 months until genetic analysis was performed. All venipunc-
ture was conducted by a registered nurse.
Sample Processing for Genetic Analysis
Samples were transferred under optimal conditions to the
Genetics and Molecular Biology Unit of the Hospital La
Ribera University in Alzira (Valencia) for relevant process-
ing. DNA extraction was performed using standard tech-
nology based on PCR. A TaqMan single nucleotide
polymorphism (SNP) genotyping analysis (Applied Biosys-
tems, Foster City, CA) was performed using the Fast 7900HT
real-time PCR system (Applied Biosystems).30 Genotype
determination for each patient was reproduced in 3 in-
dependent trials.
Data Analysis and Statistics
Descriptive data of quantitative variables are presented as
mean and SD and frequencies and percentages for qualitative
data. An independent t test for normally distributed data was
used to establish if any significant differences existed
between the participants’ characteristics of the case and
control groups.
For sample size calculation, the G * Power 3.1 software was
used for a fixed effects 1-way analysis of variance, performed a
priori with an alpha of 0.05 and a beta of 0.80. A sample size
of 128 was calculated, similar to the sample used by Salles
et al31 (138 professional volleyball players).
A x2 analysis was used to determine whether significant
genotype distribution differences existed between case and
control groups. For those variables with significant differences
between groups, the post-hoc Fisher test was applied, and
Cramer and V distance correlation coefficients were also
established. The significance level was set at P , 0.05 for all
analyses. Statistical analyses were performed using SPSS
Version 25.0 software (SPSS Inc, Chicago, IL).
RESULTS
Participants
Eighty-eight healthy young athletes without clinical symptoms
and normal bilateral imaging (US) of their rotator cuff tendons
were compared with 49 participants with clinically diagnosed
rotator cuff tendinopathy and showed US abnormality in one
or both rotator cuff tendons. In addition, the shoulder activity
was categorized using the scale of Brophy et al.32
The mean age in the pathological group was higher than
that of the control group. The other descriptive variables were
homogeneous (Table 1).
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TABLE 1. Characteristics of Tendon Pathology Cases and Controls

Cases (n 5 49) Controls (n 5 88)
Sex, n (%)
Men 25 (51.0) 52 (59.1)
Women 24 (49.0) 36 (40.9)
Age, mean 6 SD (range) 25.2 6 6.6 (18-44) 21.9 6 4.4 (18-38)
Dominant hand, n (%)
Right 45 (91.8) 79 (89.8)
Left 2 (4.1) 6 (6.8)
Ambidextrous 2 (4.1) 3 (3.4)
BMI, mean 6 SD (range) 23.1 6 3.0 (17.1-34.6) 22.4 6 3.4 (17.0-36.5)
Body fat, % 18.2 6 7.0 (6-44.5) 15.6 6 7.0 (4.2-41.4)
Laxity, Beighton test points 3.35 6 2.6 (0-9) 2.61 6 2.35 (0-8)
Shoulder activity level*, n (%)
High 12 (24.5) 30 (34.1)
Medium 22 (44.9) 50 (56.8)
Low 12 (24.5) 8 (9.1)
Sport practice, n (%)
Contact 21 (42.8) 41 (46.5)
Throwing 35 (71.4) 46 (52.3)
DASH score, % (0-100)
DASH general score 44.2 6 19.9 (10.8-85.0) 0.93 6 2.2 (0-10)
DASH sport module 42.3 6 20.9 (12.5-100) 1.0 6 3.8 (0-25)
DASH work module 41.1 6 24.2 (12.5-100) 0.35 6 2.7 (0-25)
Side of tendinopathy, n (%)
Dominant alone 20 (40.8) N/A
Nondominant alone 6 (12.2) N/A
Bilateral 23 (46.9) N/A
Previous tendinopathy, n (%)
No 21 (42.9) N/A
Dominant side 9 (18.4) N/A
Nondominant 10 (20.4) N/A
Bilateral 9 (18.4) N/A
* Based on Brophy et al.32
BMI, body mass index (weight in kg/height in m2).

Genetic Polymorphisms
There was an association between COL5A1 rs12722 and the
presence of pathology in rotator cuff tendons (P 5 0.042,
Table 2). This was confirmed by the Fisher test and presents a
correlation coefficient of 0.21 and a Cramer’s v of 0.215. The
genotype of SNP COL5a1 rs12722 and the presence of the US
tendinopathy findings were examined according to whether
the pathology was unilateral on the dominant side, unilateral
nondominant, or bilateral in nature. A direct relationship
between CC genotype and bilateral US pathological images
was statistically significant (x2 5 0.0051) and confirmed by
the Fisher test, with a correlation coefficient of 0.345 and a
Cramer’s v of 0.26.
This polymorphism was also correlated with lower
Beighton scores (,4), suggesting a positive relationship
between this polymorphism and hypermobility. For CO-
L11a1 rs3753841 polymorphism, no relationship was found
with tendon pathology (x2 5 0.317) or between the unilateral/
bilateral nature of the pathology and this SNP (P 5 0.489). In
this line, no relationship was observed between COL11a1
rs1676486 and tendon pathology (x2 5 0.768) or the
unilateral–bilateral nature of the pathology (P 5 0.697).
There was also no relationship between COL11a2 rs1799907
polymorphism and tendon pathology, neither unilateral nor
bilateral (x2 5 0.074).
DISCUSSION
This study provides that COL5a1 is a candidate gene that could
be involved in rotator cuff tears.6,7 Our study reports a significant
association between the COL5a1 rs12722 genotype and the
presence of rotator cuff tendinopathy diagnosed by a specialist
physician and confirmed using imaging, physical examination,
and DASH questionnaire. The significant association between
the CC genotype and increased risk of tendinopathy is of great
interest, given that, in other tendons, it has been shown to have

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Y. Alakhdar et al. (2021)
TABLE 2. Genotype Frequencies for SNPS Studied
Cases (n 5 49)
Genotype COL5a1 rs12722, n (%)
C/C 7 (14.3)
C/T 31 (63.3)
T/T 11 (22.4)
Genotype COL11a1 rs3753841, n (%)
C/C 6 (12.2)
C/T 28 (57.1)
T/T 15 (30.6)
Genotype COL11a1 rs1676486, n (%)
C/C 37 (75.5)
C/T 11 (22.4)
T/T 1 (2.0)
Genotype COL11a2 rs1799907, n (%)
A/A 6 (12.2)
A/T 16 (32.7)
T/T 27 (55.1)
A, adenine; C, cytosine; T, thymine.
* Significant, P , 0.05.
protective effects.19,21,30,33 These results suggest that CC
genotype for SNP COL5a1 rs12722 is a strong candidate to
develop tendinopathy in the rotator cuff. The study showed that
there is an association between COL5a1 rs12722 and tendon
pathology in the rotator cuff, not however for COL11a1
rs3753841, COL11a1 rs1676486, or COL11a2 rs1799907.
The SNP COL5a1 rs12722 genotype frequency in our study was
very different from the data found in Korean college students
(53.8% CC, 40.7% CT, and 4%)34 and in the Japanese
population (76% CC and 24% TT 1 CT).35 The data obtained
by Bertuzzi et al36 in a group of young, active Brazilian
participants showed a distribution more similar to ours (16%
CC, 56% CT, and 28% TT), although with higher incidence of
genotype CC in detriment to TT, a finding consistent with the
study conducted by Brown et al19 (19.5% CC, 47.4% CT, and
33.1% TT). Our findings are in keeping with those obtained by
Kim et al,37 who showed that the rs12722 genotype did not
increase the risk of tendon injury.
It is possible that ethnic differences account for the
differences in results between studies. In addition, different
locations of tendinopathy may influence results, as very few
studies have analyzed the influence of genetics on tendinop-
athy of the rotator cuff.38,39 Therefore, the available data to
date have mostly been obtained from tendons of the lower
limbs, whose spring-like behavior yields different properties
and functions and, consequently, different degenerative
mechanisms.39 COL5a1 rs12722 in the control and patho-
logical groups was actually opposed to that reported in the
literature (5.68% control vs 14.29% pathological), where the
CC genotype has been associated with a lower incidence of
tendon injuries;19,21,30,33 thus, a protective effect of genotype
CC with respect to rotator cuff tendinopathy was not
confirmed.
Another interesting finding is the relationship between
genotype and unilateral or bilateral tendinopathy and whether
the dominant or nondominant side was affected. The
genotype of COL5a1 rs12722 shows a higher than expected
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Clin J Sport Med
Controls (n 5 88) P
0.042*
5 (5.7)
47 (53.4)
36 (40.9)
0.317
17 (19.3)
39 (44.3)
32 (36.4)
0.768
69 (74.8)
16 (18.2)
3 (3.4)
0.370
7 (8.0)
22 (25.0)
59 (67.0)
frequency for the TT genotype in normal tendons, while
showing a lower frequency in bilateral tendinopathy. These
data differ from those previously published on the relationship
between genotype TT and increased risk of tendinopathy as
justification for the presence of bilateral tendinopathy when
considering the SNP COL5a1 rs12722.21,40–42
With respect to the SNPs associated with collagen XI, no
differences were found between groups, nor in the distribution
of tendinopathy; however, a trend, although not significant,
can be found in the relationship between COL11a2
rs1799907 and the manifestation of tendinopathy, finding
higher than expected values in the AT genotype in unilateral
dominant-side tendinopathy.
As such, the data obtained in this study regarding collagen
XI are in keeping with the results obtained by Hay et al,30 who
reported there is no independent association between the
SNPs analyzed in collagen XI and tendon pathology of the
rotator cuff.
Despite the results obtained in this study, a direct causal
relationship is not necessarily to be inferred, as the etiology of
tendinopathy is multifactorial. However, a better understand-
ing of the relationship between certain genetic risk factors and
tendinopathy may be useful for clinicians when evaluating
patients and developing training and treatment plans.
It is important to acknowledge some limitations of this
research. The sample was small and the type of physical
activity specific to university-level athletes. Other parameters
or confounding variables were not accounted for in this
research (eg, ethnicity of the subjects). There are other
candidate genes such as MMP that could be involved in
multifactorial rotator cuff tears23 and were not analyzed.
Therefore, it is reasonable to assume such limitations for
extrapolating our conclusion to other populations. In an effort
to address potential sources of bias, there is a potential bias
from pharmacotherapy, because although we questioned
subjects about any possible drug treatment, their relevant
medical history was not verified.
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CONCLUSIONS
In this study, the genotype for SNP COL5a1 rs12722 is a
strong candidate to regulate the risk of tendinopathy in the
rotator cuff in young athletes. Participants in the pathological
group were more likely to have the CC genotype. Similarly,
there was a higher than expected frequency of the TT genotype
in the healthy group suggesting a protective role. None of the
collagen XI SNP genotypes seem to exert a major influence in
rotator cuff tendinopathy.
ACKNOWLEDGMENTS
The authors thank all persons who made this study possible by
their participation.
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