The aim of this study was to determine whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism (rs2476601) confers susceptibility to systemic sclerosis (SSc) in different ethnic populations. A meta-analysis was conducted on the PTPN22 C1858T polymorphism across twelve comparative studies containing 4,367 SSc patients and 4,771 normal control subjects. The analysis showed an association between the PTPN22 1858T allele and SSc in all study subjects (OR [odds ratio] 1.169, 95% confidence interval [CI] 1.051, 1.300, P = 0.004). Analysis after stratification by ethnicity indicated that the PTPN22 1858T allele was significantly associated with SSc in Europeans (OR 1.147, 95% CI 1.029, 1.278, P = 0.013), and analysis showed an association between the T allele and SSc in anti-centromere antibody (ACA)-positive European subjects (OR 1.220, 95% CI 1.051, 1.417, P = 0.009). However, no association was found between the allele and anti-topoisomerase antibody (ATA)-positive SSc European patients (OR 1.1786, 95% CI 0.979, 1.417, P = 0.083). In addition, African Americans were found to have a much lower prevalence of the T allele (1.5%) than any other population studied, and Europeans had the highest prevalence (8.2%). This meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with SSc susceptibility and ACA status in Europeans, and that its prevalence is dependent on ethnicity.
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