Association of ACL tears and single nucleotide polymorphisms in the collagen 12 A1 gene in the Indian population - a preliminary case-control study

Genetic predisposition to ACL tears has received tremendous interest in the past few years with many SNPs of different genes being linked to ACL tear. To examine if specific sequence variants in COL12A1 gene are associated with ACL tears in Indian population. Case-control study. 50 patients with surgically diagnosed ACL tear and 52 healthy, age-matched controls without any ligament/tendon injuries were genotyped for rs970547 and rs240736 SNPs using real time PCR method. The AG and GG genotypes were significantly under-represented in study group patients in rs970547 region (p=0.0361). However, there was no significant difference in genotype/allele frequencies in the rs240736 region. The COL12A1 rs970547 SNP is associated with ACL tears in the Indian population. However, these results need to be validated further so that predisposed individuals can be screened in the future for counselling and intervention. III.