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目的:了解信号转导和转录激活因子4(STAT4)基因单核苷酸多态性(SNP)在贵州人群中的分布,探讨STAT4基因SNP位点rs7574865与类风湿性关节炎(RA)的关系。方法:采用酚-氯仿法提取100例RA患者和100例健康对照外周血基因组DNA,运用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)法检测STAT4基因rs7574865单核苷酸多态性。结果:STAT4 rs7574865位点存在GG、GT、TT 3种基因型,其在RA组和对照组中的基因型频率分别为29.0%、52.0%、19.0%及35.0%、53.0%、12.0%;G和T等位基因在RA组和对照组中基因频率分别为55.0%、45.0%及61.5%、38.5%。与对照组相比,RA组3种基因型及等位基因频率差异均无统计学意义(P>0.05)。结论:STAT4 rs7574865可能与贵州人群RA的遗传易感性无关。
OBJECTIVE: To investigate the distribution of single nucleotide polymorphism (SNP) of signal transducers and activators of transcription 4 (STAT4) in Guizhou population and to explore the relationship between STAT4 SNP rs7574865 and rheumatoid arthritis (RA) . Methods: Peripheral blood genomic DNA was extracted from 100 cases of RA patients and 100 healthy controls by phenol-chloroform method. The single nucleotide polymorphisms of STAT4 gene rs7574865 were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Polymorphism. Results: There were three genotypes of GG, GT and TT in STAT4 rs7574865 locus. The genotype frequency of STAT4 rs7574865 was 29.0%, 52.0%, 19.0% and 35.0%, 53.0% and 12.0% in RA and control groups respectively. G The frequencies of T allele and T allele in RA group and control group were 55.0%, 45.0% and 61.5%, 38.5% respectively. Compared with the control group, there was no significant difference in the frequencies of the three genotypes and alleles in RA group (P> 0.05). Conclusion: STAT4 rs7574865 may not be related to the genetic predisposition of RA in Guizhou population.