Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury

Abstract

Although various intrinsic and extrinsic risk factors for anterior cruciate ligament (ACL) rupture have been identified, the exact aetiology of the injury is not yet fully understood. Type III collagen is an important factor in the repair of connective tissue, and certain gene polymorphisms may impair the tensile strength. The aim of this study was to examine the association of the COL3A1 rs1800255 polymorphism with ACL rupture in Polish male recreational skiers. A total of 321 male Polish recreational skiers were recruited for this study; 138 had surgically diagnosed primary ACL ruptures (ACL-injured group) and 183 were apparently healthy male skiers (control group – CON) who had no self-reported history of ligament or tendon injury. Both groups had a comparable level of exposure to ACL injury. Genomic DNA was extracted from the oral epithelial cells. All samples were genotyped on a real-time polymerase chain reaction instrument. The genotype distribution in the ACL-injured group was significantly different than in CON (respectively: AA=10.1 vs 2.2%, AG=22.5 vs 36.1, GG=67.4 vs 61.8%; p=0.0087). The AA vs AG+GG genotype of COL3A1 (odds ratio (OR)=5.05; 95% confidence interval (CI), 1.62-15.71, p=0.003) was significantly overrepresented in the ACL-injured group compared with CON. The frequency of the A allele was higher in the ACL-injured group (21.4%) compared with CON (20.2%), but the difference was not statistically significant (p=0.72). This study revealed an association between the COL3A1 rs1800255 polymorphism and ACL ruptures in Polish skiers.

Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy

“…For ACL rupture, when we repeated the analysis without using covariates, we found that rs1800255 in COL3A1 had a small p-value of 0.03 with the same direction as found previously ( S3 Table )[ 21 ]. With seven tests, this p-value does not meet the Benjamini-Hochberg threshold (p = 7x10 -3 ) and has about a 21% chance of being a false discovery.…”

Collagen type III and elastin genes polymorphism and the risk of nonsyndromic striae

“…Our population appeared, however, to be very homogenous in the aspect of allele distribution as 68 of 70 women were heterozygotes. The observed distribution of A and G alleles seems to be similar to the one presented in the study concerning Polish population, which showed overrepresentation of the COL3A1 AA genotype in skiers with anterior cruciate ligament injury . Although we have not found any correlations between elastin and collagen type III genes’ polymorphisms, we think that further analyses including more numerous groups are needed.…”

Tendon and Ligament Injuries in Elite Rugby: The Potential Genetic Influence

“…Over the last ~25 years, numerous studies have examined genetic factors that potentially predispose an individual to ACL injury [113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129]. Tears of the ACL seem at least twice as likely in individuals with a family history of ACL tear compared to those with no family history [113,114].…”

“…Inter-individual variability of tendon and ligament properties is likely to cause microtrauma and macrotrauma at differing strain levels among individuals, thus similar injury-inciting events amongst rugby players may have vastly different outcomes. Published associations exist between gene variants (of proteins that play structural and functional roles within tendons and ligaments) and susceptibility to injury for tendinopathy [130,131,132,133,134,135,136,137,138,139,140], tendon rupture [140] and ACL rupture [116,117,118,119,120,121,122,125,127,128,129,139]. Therefore, due to the high incidence and severity of tendon and ligament injuries within elite rugby, there is a potential future role for genetic screening of players to aid in injury risk management, but the practicalities are yet to be developed.…”