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

Rakesh John; Sharad Prabhakar; Mandeep Singh Dhillon; Akshay Anand; Gillipsie Minhas

doi:10.11138/mltj/2016.6.2.253

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

Muscles Ligaments Tendons J. 2016 Sep 17;6(2):253-257. doi: 10.11138/mltj/2016.6.2.253. eCollection 2016 Apr-Jun.

Authors

Rakesh John¹, Sharad Prabhakar¹, Mandeep Singh Dhillon¹, Akshay Anand², Gillipsie Minhas²

Affiliations

¹ Department of Orthopaedics, PGIMER, Chandigarh, India.
² Neuroscience Research Lab, Department of Neurology, PGIMER, Chandigarh, India.

Abstract

Background: 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.

Study objectives: To examine if specific sequence variants in COL12A1 gene are associated with ACL tears in Indian population.

Study design: Case-control study.

Materials and methods: 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.

Results: 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.

Conclusions: 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.

Level of evidence: III.

Keywords: ACL tear; COL12A1; gene polymorphisms; genetic association study; single nucleotide polymorphism (SNP).