한국인에서의 COL2A1 유전자 다형성과 강직성 척추염의 연관성

Abstract

Study Design: Case-control comparison study.

Objectives: The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) of COL2A1 affect the development of ankylosing spondylitis (AS).

Summary of Literature Review: Many factors have been reported to be involved in the etiology of AS. Human leukocyte antigen (HLA)-B27 has been established as a genetic factor involved in the development of AS; however, it has been reported in recent studies that various genetic polymorphisms may be related to the development of AS. The collagen, type II, alpha 1 gene (COL2A1) plays a role in cartilage formation and maintaining the vitreous humor in the eye. Several previous studies have investigated the associations of COL2A1 with spinal degenerative diseases, but no case-control comparative study has yet investigated the effect of COL2A1 variants on the development of AS.

Materials and Methods: The study was planned with 96 AS patients in the study group and 330 healthy individuals in the control group. We searched the gene region of the COL2A1 gene in the NCBI SNP database (http://www.ncbi.nlm.nih.gov/snp), and 3 SNPs (rs3803183, rs2070739 and rs1793949) were found using sequencing to be significantly different between the AS and control groups. Multiple logistic regression models for genetic analysis were applied.

Results: Three SNPs (rs3803183, rs2070739 and rs1793949) of COL2A1 showed significant associations with AS patients compared to control subjects (p<0.05).

Conclusions: SNPs of COL2A1 may be associated with the development of AS in the Korean population.