无孢蛋白基因的天冬氨酸重复多态性与膝骨关节炎易感性之间的相关性：一项遗传学meta分析

Abstract

Objective: Knee osteoarthritis (KOA) is a common disease that is characterized by the degeneration of joint cartilage in the knee. Genetic factors have been implicated in KOA. Recently, several genetic studies have suggested that susceptibility to KOA is affected by the number of aspartic acid (D) residues in the amino-terminal of the asporin protein, but evidence remains conflicting. Therefore, the objective of the present meta-analysis was to investigate whether or not the D-repeat polymorphism is associated with susceptibility to KOA.

Methods: A systematic search of all relevant studies published through Dec 2012 was conducted using the MEDLINE, EMBASE, OVID, and ScienceDirect. Allelic counts were evaluated for the D14 and D13 alleles respectively. The included studies were only assessed in the analysis of the following allele model: D14 allele vs others alleles combined, D13 allele vs others alleles combined, and D14 allele vs D13 allele.

Results: Seven studies (eight comparisons) with 5515 total participants (2334 KOA patients and 3181 controls), which involved four Caucasian and four Asian populations, were eligible for inclusion. Meta-analysis was conducted for genotype D14 vs others combined, D13 vs others combined, and D14 vs D13. In the stratification based on ethnicity, studies were divided into Caucasian and Asian populations. We did not detect positive association between KOA and the D14 allele in Asian populations (OR=1.527, 95% CI: 0.879-2.653) and in Caucasian populations (OR=1.053, 95% CI: 0.905-1.225). There was also no positive association between susceptibility to KOA and D13 allele in Asian populations (OR=0.950, 95% CI: 0.732-1.233) and in Caucasian populations (OR=0.866, 95% CI: 0.723-1.037).

Conclusion: The present results suggest that the D-repeat of asporin gene (ASPN) may not be a major susceptibility locus in the Caucasian and Asian populations with KOA. Because of the limitations of the present meta-analysis, accurate conclusions could not be drawn based on the current evidence, and further studies with large sample size are required.