The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers

...-wise linkage disequilibrium between BstUI RFLP C/T and DpnII RFLP C/T was estimated by D and r 2 . For all tests, the level of significance was set at p<0.05. Results At baseline, male recreational skiers with surgically diagnosed primary ACL ruptures and the control group did not differ significantly by age (27 2 and 26 3 years, respectively), and the level of exposure to ACL injury. The genotype and allele frequencies for the COL5A1 BstUI RFLP C/T (rs12722) and COL5A1 DpnII RFLP C/T (rs13946) are shown in Table 1 . The genotype distributions for both polymorphisms met Hardy-Weinberg expectations in both groups. There were no significant differences in genotype distribution or allele frequency of either COL5A1 BstUI RFLP (rs12722, C/T) or COL5A1 DpnII RFLP (rs13946, C/T) polymorphisms between the ACL rupture group and the control group using the 2-by-3 general test of association ( Table 1 ). Likewise, there were no significant differences in the genotype frequencies for the COL5A1

... predisposition to non-contact ACL tears. The genetic influence was assessed among others with a medical history questionnaire to determine the knee ligament injuries of the patients primary family members. There was a higher incidence rate of ACL injury in the immediate family of the injured group (35%) than that of the control group (4%). In our study, we examined the association between both BstUI RFLP C/T (rs12722) and DpnII RFLP C/T (rs13946) polymorphisms in the COL5A1 gene, individually and as

... Saxon LK Castillo AB Turner CH Knee ligament mechanical properties are not influenced by estrogen or its receptors. Translational physiology Am J Physiol. 2006 290 E1034E1040 Table 1 Association between the presence of either COL5A1 BstUI RFLP (rs12722, C/T) or COL5A1 DpnII RFLP (rs13946, C/T) polymorphisms and incidence of ACL rupture SNP Group HWE Genotype distribution p Allele frequency p OR (95%CI) BstUI RFLPC/T ACLR n = 138 0.861 CC: 24 (17%) CT: 66 (48%) TT: 48 (35%) p 0.467 p D 0.276 p R

...: HardyWeinberg Equilibrium; OR: odds ratio; CI: confident interval, p D and p R are two-sided Fishers exact test probabilities for dominant (CC+CT vs TT) and recessive (CC+CT vs TT) modes of inheritance of the minor allele (BstUI RFLP C/T, DpnII RFLP C/T), respectively. Table 2 Pair-wise linkage disequilibrium (LD) and inferred haplotype frequencies for COL5A1 BstUI RFLP C/T and DpnII RFLP C/T Gene SNP1 SNP2 D r 2 Haplotypes Haplotype Frequency (%) COL5A1 BstUI RFLP C/T (rs12722) DpnII RFLP C/T (rs13946

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SNP: rs13946

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