HLA‐DRB1 gene polymorphisms and its associations with rheumatoid arthritis in Chinese Han women of Shaanxi province, northwest of China

Abstract

Rheumatoid arthritis (RA) is a common chronic autoimmune disease characterized by symmetric polyarthritis. This study was designed to investigate the associations between HLA-DRB1 gene polymorphisms and RA in the Chinese Han population of Shaanxi province, northwest of China. In total, we identified 31 high-resolution HLA-DRB1 alleles in 109 patients with RA. Compared with the controls, the AF of HLA-DRB1*04:05 (P = 0.000, Pc = 0.007, OR = 3.462, 95%CI: 1.749-6.852) was significantly higher in patients with RA. In addition, the patients with RA had higher allele frequency (AF) of the HLA-DRB1*04:03 (P = 0.030, Pc = NS, OR = 4.737, 95%CI: 1.012-22.180); DRB1*04:06 (P = 0.018, Pc = NS, OR = 5.288, 95%CI: 1.145-24.422) and the shared epitope (SE) alleles (P = 0.004, Pc = NS, OR = 2.166, 95%CI: 1.279-3.667), respectively. Moreover, positive possibilities of RF and anti-CCP were significant higher in SE-positive patients compared to SR-negative patients (OR = 4.787, 95%CI: 1.101-20.824; OR = 3.775, 95%CI: 1.106-12.876, respectively). Our results indicated that HLA-DRB1*04:05, *04:03, *04:06 and SE alleles might be susceptibility allele for RA in Chinese Han population of Shaanxi province, northwest of China.

HLA-DRB1 shared epitope allele polymorphisms and rheumatoid arthritis: a systemic review and meta-analysis

“…Large heterogeneity was present among some alleles in the different studies, which may have influenced the results. Publication bias was found for alleles *01 and *10, and may possibly be due to the large range of odds ratio for some studies; for example, Saghafi et al [15] reported an OR = 0.003 and Seglias et al [50] reported an OR = 5.016 (Figure 2A). Although our sensitivity analysis found that the results were robust, the numbers are considered at two ends of extreme.…”

HLA-DPB1 rs9277535 polymorphism is associated with rheumatoid arthritis risk in a Chinese Han population

“…These A- and B-chains are coded separately by the DPB1 and DPA1 alleles on the sixth chromosome, and the nucleotide sequence of the DPB1 exon varies most significantly, leading to allele polymorphism and diverse phenotypes [ 6 ]. Increasing evidence indicates that HLA-DR in general, and the HLA-DRB1 locus in particular, is a critical genetic risk factor for RA [ 7 – 9 ]. The roles of HLA-DP genes in psoriasis (POS), systemic lupus erythematosus (SLE), and dermatomyositis (DM) have also been investigated [ 10 – 12 ].…”