Genetic variation of SMAD3 is associated with hip osteoarthritis in a Chinese Han population

Abstract

Objective This study was performed to investigate the association between genetic variation in SMAD3 and hip osteoarthritis (OA) in a Chinese Han population. Methods The frequency of two single nucleotide polymorphisms of SMAD3, rs1470002 and rs12901499, was examined in 500 patients with hip OA and 1080 healthy controls in a Chinese Han population. Further analysis was performed according to sex and age. Results We detected statistically significant differences in the allele frequency and genotype between the hip OA and healthy control groups. The frequency of the GA+GG and GA genotypes of rs12901499 and the G variant were much higher in patients with hip OA than in healthy controls. This association was also present when the participants were stratified by sex and age. However, there was no significant association between the risk of hip OA and the presence of rs1470002 GA, AA, or GA+AA genotypes, even after sex- and age-stratified analysis. Conclusions The SMAD3 SNP rs12901499 GA genotype and G variant may increase the risk of hip OA in Chinese Han patients.

Keywords: Chinese Han; Hip osteoarthritis; PCR; SMAD3; case–control study; single nucleotide polymorphism.

Figure 1.

Relative expression levels of MMP13 mRNA in SNP-negative and -positive patients were analyzed by real-time PCR. The bar represents the mean ± standard error of two independent experiments. *P < 0.05 compared with SNP-negative patients. MMP13, matrix metalloproteinase 13; SNP, single nucleotide polymorphism.

Figure 2.

Relative expression levels of COL2A1 mRNA in SNP-negative and -positive patients were analyzed by real-time PCR. The bar represents the mean ± standard error of two independent experiments. *P < 0.05 compared with SNP-negative patients. COL2A1, type II collagen; SNP, single nucleotide polymorphism.