Genetic estrogen receptor alpha gene PvuII polymorphism in susceptibility to knee osteoarthritis in a Chinese Han population: A southern Jiangsu study

Knee osteoarthritis (KOA) is the most prevalent type of arthritis and genetic factors play an important role in KOA pathogenesis. Some studies have reported the association of estrogen receptor alpha (ESRα) gene polymorphism and KOA susceptibility in different populations. This study was designed to verify whether ESRα gene polymorphism (rs2234693) was associated with primary KOA in a Chinese Han population living in the south of Jiangsu.

A case–control association study on single nucleotide polymorphism (SNP) rs2234693 was performed, and a total of 1953 subjects (1033 OA cases and 920 controls) were genotyped. Allele and genotype frequencies were compared between KOA cases and control participants.

SNP rs2234693 was significantly associated with KOA in the dominant genetic model (TT + TC vs. CC) in all the subjects (odds ratio (OR) = 1.30; 95% confidence interval (CI) = 1.02–1.66; P = .03), and T allele frequency was also higher compared with allele C (OR = 1.38; 95% CI = 1.06–1.80; P = .02). After stratification by gender, there was no evident difference between the two groups in female and male subjects ( P > .05). With a stratification for KOA severity, the combined genotype (TT + TC) (OR = 1.47; 95% CI = 1.12–1.94; P < .01) and T allele (OR = 1.61; 95% CI = 1.19–2.19; P < .01) were evidently associated with mild KOA, but not with severe KOA.

ESRα gene is of considerable importance in the pathogenesis of early-stage KOA in a Chinese Han population living in southern Jiangsu.