| Rheumatoid arthritis is an autoimmune disease characterized by the swelling and inflammation of the joints. It causes irreversible damage to the synovium, cartilage and bone. The incidence of RA in women is three times higher than that in men. The prevalence of RA in Chinese is 0.35%.;The odds ratios (OR) were presented in dominant and recessive genetic models. In the dominant model STAT4 (OR 0.48, 95% CI: 0.38-0.61, p-value = 9.8x10-10) and HLA-DQA1 (OR 0.35, 95% CI: 0.25-0.48, p-value < 1.0x10-7) were associated with the risk for RA in both genders. PADI4-94 (OR 2.16, 95% CI: 1.28-3.66, p-value = 0.002) and ANAPC4 (OR 0.59, 95% CI: 0.37-0.94, p-value = 0.02) were associated with RA in men only, whereas TNFA1P2 (OR 1.36, 95% CI: 1.05-1.77, p-value = 0.016), MMEL1-TNFRSF14 (OR 0.48, 95% CI: 0.34-0.67, p-value = 9.6x10-6), SLC22A4 (OR 1.28, 95% CI: 1.00-1.64, p-value = 0.043) and rs11761231 (OR 0.52, 95% CI: 0.38-0.71, p-value = 2.4x10-5) were associated with RA in women only.;In the recessive model HLA-DRB1 (OR 1.8, 95% CI: 1.34-2.44, p-value = 5.7x10-5), and HLA-DQA1 (OR 2.17, 95% CI: 1.71-2.72, p-va1ue<1.0x10-7) were associated with risk for RA in both men and women. STAT4 (OR 2.38, 95% CI: 1.28-4.41, p-va1ue = 2.8x10-3), ANAPC4 (OR 0.29, 95 % CI: 0.09-0.90, p-va1ue = 0.017), and SLC22A4 (OR 2.18, 95% CI: 1.04-4.58, p-value = 0.024) were associated with the risk for RA in men only, whereas CTLA-4 (OR 2.01, 95 % CI: 1.03-3.97, p-va1ue = 0.027), TNFA1P2 (OR 0.67, 95% CI: 0.45-1.01, p-va1ue = 0.044), TNFA1P3 (OR 0.68, 95% CI: 0.49-0.94, p-va1ue = 0.015) and IL2RA (OR 0.42, 95 % CI: 0.17-0.99, p-va1ue = 0.030) were associated with the risk for RA in woman only.;There were five significant gene-gene interactions, HLA-DRB1 and HLA-DQA (p = 0.075), HLA-DRB1 and PADI-4-92 (p = 0.0072), HLA-DRB1 and PADI-4-94 (p = 0.0094), HLA-DRB1 and IL2RB (p = 4.22x10-5), and between HLA-DRB1 and rs1162922 (p = 0.0072).;We investigated the genetic predisposition from 24 SNPs in 600 RA patients and 900 controls. Seven SNPs were associated with increased risk for RA with polymorphisms in HLA-DRB1 (p for trend = 1.8x10-4 ), HLA-DQA1(p for trend = 2.0x10-16), and STAT4 (p for trend = 3.9x10-9) being significant in both men and women. Four SNPs had gender-specific effects; PADI-4-94 loci (p for trend = 0.005) affected men only, whereas TNFA1P2 (p for trend = 0.0064), MMEL1-TNFRSF14 (p for trend = 3.3x10-4) and rs11761231 loci (p for trend = 1.7x10 -4) affected women only.;Bone erosion in RA patients was associated with a polymorphism in the HLA-DRB1 loci (p for trend = 0.037) in females. No association was found with HLA-DQA loci (p for trend>0.05) and KAZALDI loci (p for trend>0.05).;Anti-CCP was found in 85% of the RA patients. It was associated with a polymorphism in the HLA-DRB loci (p for trend = 0.043) in males and HLA-DQA loci (p for trend = 1.9x10-3 ) in females. No association was found with polymorphisms in PADI-4 gene (p >0.05) or smoking status (p >0.05).;Serum rheumatoid factor (RF) was found in 65% of the RA patients. RF was associated with a polymorphism in MMEL1-TNFRSF14 loci in women (p for trend = 0.001), and with ANAPC4 (p for trend<0.05) and rs1937506 loci (p for trend<0.05) in men.;In conclusion, there was a gender-specific effect of genetic predisposition to RA. The genetic predisposition to RA in Chinese involves population-specific loci and also other susceptibility loci found in Asians and Caucasians. |
