Collagen Gene Variants and Anterior Cruciate Ligament Rupture in Italian Athletes: A Preliminary Report

Several studies have investigated the role of genetics in anterior cruciate ligament (ACL) rupture, often returning conflicting results. The present pilot study aimed to analyze association between six Single Nucleotide Polymorphisms (SNPs) (rs1800012; rs12722; rs13946; rs240736; rs970547; and rs4870723, located on COL1A1, COL5A1, COL12A1, COL14A1 genes), ACL among Italian athletes. A hypothesis-driven was conducted. In total, 181 male female athletes (n = 86 injured; n 96 non-injured) were genotyped for prioritized variants. All polymorphisms using PCR RFLP, with only exception being rs1800012 COL1A1 gene, which detected MTPA PCR. allele frequency distribution fell within worldwide range. Despite evident population variability, no selective pressure signals recorded PBS analysis. No significant difference cases controls any SNPs rs970547, rs4870723) included analyses (p > 0.008, Bonferroni-adjusted multiple comparisons). Moreover, differences found when males females assessed separately. Further investigations based a larger sample size are needed, order draw solid conclusions influence collagen genes rupture.