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目的:研究序列相似性家族16酶(FAM167A-BLK)基因多态性与类风湿关节炎(RA)病情活动的相关性。方法:本研究为单中心前瞻性队列研究。选取2019年9月至2020年9月河南省人民医院收治的309例RA患者,根据病情活动度分为低活动组162例,男87例,女75例,年龄(45.24±8.33)岁;高活动组147例,男70例,女77例,年龄(44.96±7.01)岁。采用MALDI-TOF MS系统对所选FAMl67A-BLK的4个SNP位点(rs13277113、rs7812879、rs2736340、rs2254546)进行基因分型,分析基因分型质量与Hard-Wemberg平衡检验结果,比较两组各单核苷酸多态性(SNP)位点基因型、等位基因分布情况。结果:FAMl67A-BLK的SNP位点rs13277113、rs7812879、rs2736340、rs2254546分型成功率>90%,实验中重复样本分型结果吻合率为100%,各位点均符合Hard-Wemberg平衡检验定律(n P=0.512、0.334、0.718、1.000);两组FAMl67A-BLK的SNP位点rs13277113(n χ2=6.952,n P=0.031)、rs7812879(n χ2=15.243,n P=0.001)、rs2736340(n χ2=7.213,n P=0.027)、rs2254546(n χ2=9.054,n P=0.011)基因型比较,差异均有统计学意义;高活动组FAMl67A-BLK rs13277113位点G等位基因、rs7812879位点T等位基因、rs2736340位点C等位基因、rs2254546位点A等位基因携带者均低于低活动组(n χ2=6.922、14.496、5.819、5.234,均n P<0.05);高活动组FAMl67A-BLK rs13277113位点G等位基因、rs7812879位点T等位基因、rs2736340位点C等位基因、rs2254546位点A等位基因频率均低于低活动组(均n P<0.05)。n 结论:FAMl67A-BLK的SNP位点rs13277113、rs7812879、rs2736340、rs2254546基因型在不同RA病情活动患者中存在显著差异,FAMl67A-BLK rs13277113位点G等位基因、rs7812879位点T等位基因、rs2736340位点C等位基因、rs2254546位点A等位基因与RA病情活动密切相关。“,”Objective:To study the correlation between sequence similarity family 167A-B lymphatic tyrosine kinase (FAM167A-BLK) gene polymorphism and rheumatoid arthritis (RA) disease activity.Methods:A total of 309 RA patients admitted to Henan People\'s Hospital from April 2016 to September 2019 were divided into a low activity group (162 cases) and a high activity group (147 cases) according to their disease activity. The low activity group had 87 males and 75 females, and were (45.24±8.33) year old. The high activity group had 70 males and 77 females, and were (44.96±7.01) years old. The genotypes of the 4 single nucleotide polymorphism (SNP) loci (rs13277113, rs7812879, rs2736340, and rs2254546) were detected by the MALDI-TOF MS system. The genotyping quality and Hard-Wemberg equilibrium test results were analyzed, and the genotypes and allele distributions of the SNP loci were compared between the two groups.Results:The SNP loci of FAMl67A-BLK were rs13277113, rs7812879, rs2736340, and rs2254546, and their typing success rates were greater than 90%. In the experiment, the coincidence rate of repeated sample typing results was 100%, and all the points were in accordance with the Hard-Wemberg equilibrium test law (n P=0.512, 0.334, 0.718, and 1.000). There were statistical differences in the genotypes of the 4 SNP loci, rs13277113 (n χ2=6.952, n P=0.031), rs7812879 (n χ2=15.243, n P=0.001), rs2736340 (n χ2=7.213, n P=0.027), and rs2254546 (n χ2=9.054, n P=0.011), of FAMl67A-BLK between the two groups. The carriers of FAMl67A-BLK rs13277113 locus G allele, rs7812879 locus T allele, rs2736340 locus C allele, and rs2254546 locus A allele in the high activity group were lower than those in the low activity group (n χ2=6.922, 14.496, 5.819, and 5.234; all n P<0.05). The frequencies of FAMl67A-BLK rs13277113 locus G allele, rs7812879 locus T allele, rs2736340 locus C allele, and rs2254546 locus A allele in the high activity group were lower than those in the low activity group (all n P<0.05).n Conclusions:The genotypes of the SNP loci, rs13277113, rs7812879, rs2736340, and rs2254546, of FAMl67A-BLK are significantly different between patients with different RA conditions. FAM16A-BLK rs13277113 locus G allele, rs7812879 locus T allele, rs2736340 locus C allele, and rs2254546 locus A allele are closely related to RA disease activity.