AB0023 ASSOCIATION OF NCF2, NCF4 AND CYBA GENES POLYMORPHISMS WITH RHEUMATOID ARTHRITIS IN A CHINESE POPULATION

Abstract

Background:Recent studies have focused on the special roles of NADPH-oxidase, which is composed of gp91phox, p22phox, p47phox, p67phox, p40phox encoded byCYBB,CYBA,NCF1,NCF2,NCF4genes, in multiple autoimmune diseases. Nevertheless, the association of genetic variation in NADPH-oxidase genes with rheumatoid arthritis (RA) was not extensively studied in Chinese population.Objectives:We performed this study to examine the association ofNCF2,NCF4,CYBAgenes polymorphisms with RA susceptibility in a Chinese population.Methods:Six single nucleotide polymorphisms (SNPs) (NCF2rs10911363,NCF4rs1883112, rs4821544, rs729749,CYBArs3794624, rs4673) were genotyped in a cohort composed of 593 RA patients and 596 normal controls. All patients were consecutively enrolled from the Department of Rheumatology at the First Affiliated Hospital of University of Science and Technology of China and the First Affiliated Hospital of Anhui Medical University, and the normal controls was enrolled from the same region. Improved multiple ligase detection reaction (iMLDR) was used for genotyping. Chi-square (χ2) test was used to analyze the association of the genotype and allele frequencies of above SNPs and RA. Odds ratios (OR) and 95% confidence interval (CI) were also evaluated using Logistic regression analyses, and haplotype analysis was assessed using SHEsis software.Results:There were 101 males and 492 females in RA group with a mean age of 51.59±6.68 years, and the normal control group included 97 males and 499 females with an average age of 52.32±12.63 years. We observed thatNCF4rs4821544 CT genotype, C allele frequencies in RA patients were significantly decreased when compared to controls (CT vs. TT:P= 0.043; C vs. T:P= 0.031), and rs4821544 polymorphism was significantly associated with an increased RA risk under the dominant model (TT vs. CT+CC:P= 0.031). Moreover, our results also indicated that rs729749 CT genotype frequency was significantly lower in RA patients than that in controls (CT vs. CC:P= 0.033). No significant association betweenNCF2,CYBAgenes polymorphisms and RA susceptibility was observed. There were no significant differences in allele, genotype frequencies of above SNPs between RA patients with RF-positive and with RF-negative, as well as anti-CCP-positive RA patients and anti-CCP-negative RA patients.Conclusion:In summary,NCF4rs4821544, rs729749 polymorphisms might contribute to RA susceptibility, whileNCF2,CYBAgenes polymorphisms were not associated with RA susceptibility.