中国北方汉族人群中STAT4基因多态性与类风湿关节炎易感相关性研究

Objective Several studies have reported that a variant of STAT4 rs7574865 is strongly associated with increased susceptibility of RA in European, Korean, and Japanese populations. However, a recent study from China showed no association between STAT4 rs7574865 polymorphism and RA susceptibility in Chinese Han subpopulation. Since the Northern Hans are known to be genetically different from the Southern Hans, the aim of this study was to investigate the association of STAT4 polymorphism with RA in a large cohort of Northern Chinese Han subpopulation. Methods Six hundred forty unrelated RA patients and 662 healthy controls were enrolled in this study. All samples were genotyped for SNP rs7574865 in STAT4 by polymerase chain reaction (PCR) and direct sequencing. The association of SNP rs7574865 with RA susceptibility was calculated and the relationship between rs7574865 polymorphism and RA subgroups stratified by clinical features was estimated. Results We confirmed a significant association of STAT4 rs7574865 polymorphism with RA susceptibility in Northern Chinese Han population. The frequency of the minor T allele in RA patients was significantly higher than in healthy controls (35.2% vs 31.1%; P=0.029, OR 1.2[95% CI 1.02-1.41]). There was also a significant difference in the distribution of the genotypes of SNP rs7574865 between RA patients and healthy controls (P=0.02). However, we did not find any associations between the genetic risk and clinical and laboratory features in different RA subgroups and healthy controls in Northern Hans with regard to age, duration of disease, gender, family history and presence of RA-related autoantibodies. Conclusion STAT4 SNP rs7574865 is significantly associated with RA susceptibility in Northern Chinese Han subpopulation. The genetic differences of Han subpopulations should be considered when genetic susceptibility for diseases is studied.