Is COL1A1 Gene rs1107946 Polymorphism Associated with Sport Climbing Status and Flexibility?

The R577X polymorphism in the α-actinin-3 gene (ACTN3) is associated with muscle strength and power; there is an association between ACTN3 R577X polymorphism and range of motion (ROM). We examined the effect of the ACTN3 R577X polymorphism on ROM through meta-analysis and systematic review. Relevant studies published before April 14, 2022 were identified from PubMed database using the following keywords and Boolean operators: (“flexibility” or “Joint Range of Motion” or “Joint Flexibility” or “Range of motion”) and (“ACTN3” or “alpha-actinin 3”). Studies that met the following criteria were included: (1) published in English, (2) included human subjects, (3) provided ROM measurements, and (4) analyzed the ACTN3 R577X genotype. A total of 2908 participants from 7 studies were included in the meta-analysis. The additive genetic model was assessed using a meta-regression model, and dominant and recessive models were analyzed using a random effects model. The ROM in the XX + RX genotype was significantly higher than that in the RR genotype (recessive model: p < 0.001), and it increased additively in the order XX > RX > RR (additive model: p = 0.029). However, no significant association was observed in the dominant model. These findings further elucidate the association between flexibility and the ACTN3 R577X genotype.

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Section: Discussionmentioning

confidence: 99%

“…Several studies have examined the association between other gene polymorphisms and flexibility [40,41]. For instance, the COL1A1 (rs1107946) and COL5A1 (rs12722) polymorphisms are associated with ROM [40,41]. Gene polymorphisms are associated with genu recurvatum and general joint laxity (sports, exercise, and nutritional genomics).…”

Section: Discussionmentioning

confidence: 99%

The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis

et al. 2023

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“…Another approach that has proven effective in addressing the possibility of false positive results in sports genomics literature is to perform replication studies in two or more independent athletic cohorts (even with small or moderate sample sizes), followed by a meta-analysis to quantify the overall effect of a polymorphism on athlete status and/or a sport- and exercise-related trait [ 43 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 ]. However, in some cases, replication is not possible due to the exclusivity of a polymorphism to specific populations based on their geographic ancestry.…”

Section: Introductionmentioning

confidence: 99%

Genes and Athletic Performance: The 2023 Update

Semenova

Hall

Ahmetov

2023

Genes

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Phenotypes of athletic performance and exercise capacity are complex traits influenced by both genetic and environmental factors. This update on the panel of genetic markers (DNA polymorphisms) associated with athlete status summarises recent advances in sports genomics research, including findings from candidate gene and genome-wide association (GWAS) studies, meta-analyses, and findings involving larger-scale initiatives such as the UK Biobank. As of the end of May 2023, a total of 251 DNA polymorphisms have been associated with athlete status, of which 128 genetic markers were positively associated with athlete status in at least two studies (41 endurance-related, 45 power-related, and 42 strength-related). The most promising genetic markers include the AMPD1 rs17602729 C, CDKN1A rs236448 A, HFE rs1799945 G, MYBPC3 rs1052373 G, NFIA-AS2 rs1572312 C, PPARA rs4253778 G, and PPARGC1A rs8192678 G alleles for endurance; ACTN3 rs1815739 C, AMPD1 rs17602729 C, CDKN1A rs236448 C, CPNE5 rs3213537 G, GALNTL6 rs558129 T, IGF2 rs680 G, IGSF3 rs699785 A, NOS3 rs2070744 T, and TRHR rs7832552 T alleles for power; and ACTN3 rs1815739 C, AR ≥21 CAG repeats, LRPPRC rs10186876 A, MMS22L rs9320823 T, PHACTR1 rs6905419 C, and PPARG rs1801282 G alleles for strength. It should be appreciated, however, that elite performance still cannot be predicted well using only genetic testing.

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Polymorphisms of genes of interleukin-6 and alpha-1 chain of collagen type 1 in postmenopausal women with knee osteoarthritis

Ignatenko,

Reznichenko,

Fedulichev

et al. 2023

Medical academic journal

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BACKGROUND: To date in the Russian Federation insufficient attention has been paid to the study of IL6 and COL1A1 gene polymorphisms role in the development of knee osteoarthritis. And the results of the single carried out to date studies, devoted to the research of polymorphic variants of the above genes influence on the osteoarthritis development, are insufficient for substantiated conclusions. AIM: To study the frequency of alleles and genotypes of the IL6 gene rs1800795 polymorphism and COL1A1 gene rs1107946 and rs1800012 polymorphisms in postmenopausal women with knee osteoarthritis. MATERIALS AND METHODS: The results of 157 postmenopausal women survey with knee osteoarthritis were selected and analyzed. The control group consisted of 326 women of the same age without signs of joint disease. The study of polymorphisms rs1800795, rs1107946 and rs1800012 was performed by real-time polymerase chain reaction. RESULTS: The conducted studies showed that in the general group of examined women the frequency of all three studied polymorphisms genotypes registration corresponded to the Hardy-Weinberg law. An uneven (p = 0.043) distribution of rs1800795 polymorphism genotypes was found in the group of women with osteoarthritis and in the control group in the study of the IL6 gene polymorphic variants frequency detection. This difference was due to more frequent GG genotype registration of the above polymorphism (odds ratio = 1.75; 95% confidence interval: 1.12–2.72; p = 0.021) among women with knee osteoarthritis. Associations of rs1107946 and rs1800012 COL1A1 gene polymorphisms were not found (p 0.05). CONCLUSIONS: An association between GG genotype of the IL6 gene rs1800795 polymorphism and knee osteoarthritis in postmenopausal women has been established. Genotypes and alleles of COL1A1 gene rs1107946 and rs1800012 polymorphisms were not associated with joint disease.

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Is COL1A1 Gene rs1107946 Polymorphism Associated with Sport Climbing Status and Flexibility?

Cited by 4 publications

References 38 publications

The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis

The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis

Genes and Athletic Performance: The 2023 Update

Polymorphisms of genes of interleukin-6 and alpha-1 chain of collagen type 1 in postmenopausal women with knee osteoarthritis

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