FAM167A-BLK基因多态性与类风湿关节炎病情活动的相关性研究操雪楚天舒河南省人民医院郑州大学人民医院河南大学人民医院风湿免疫科，郑州450003通信作者：楚天舒，Email：13838523547@163.com【摘要】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咒。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，麴7例，如5例(45.24±8.33)岁：高活动组147例，男70例，女77例，4龄(44.96±7.01)岁。采用MALDI-TOFMS系统对所选FAM167A-BLK的4个SNP位点(rsl3277113、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，比校两组各单核样酸多态性(SNP)位点基因型、等位基因分布情况。结果FAM167A-BLK的SNP位点rsl3277113、rs7812879、rs2736340、rs2254546分型成功率>90%.攻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(P=0.512、0.334、0.718、1.000):两组FAM167A-BLK的SNP位点rsl3277113(丁=6.952,P=0.031),rs7812879(/=15.243,P=0.001)、rs2736340(,f=7.213,P=0.027)、rs2254546(,f=9.054,P=0.011)基因型比较，差异均有统计学意义；高活动组FAMi67A-BLKrsl3277113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(尸=6.922、14.496、S.819、5.234,均P<0.05):高活动组FAMI67A-BLKrsl3277113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PV0.05)。结论EAMI67A-BLK的SNP位点rsl3277113、rs7812879、rs2736340、rs2254546基因型在不同RA病情活动患者中存在显著差异，FAMI67A-BLKrsl3277113位点G等位基因、rs7812879位点T等位基因、rs2736340位点C等位基因、rs2254S46位点A等位基因与RA病情活动密切相关。【关键词】FAM167A-BLK：基因多态性：类风湿关节炎：病情活动度：rsl3277113；rs7812879：rs2736340：rs2254546CorrelationbetweenFAM167A-BLKgenepolymorphismanddiseaseactivityofrheumatoidarthritisCaoXue,ChuTianshuDepartmentofRheumatologyandimmunology,HenanPeople'sHospital,People'sHospitalofZhengzhouUniversity,People'sHospitalofHenanUniversity,Zhengzhou450003,ChinaCorrespondingauthor:ChuTianshu,Email:13838523547@163.com[Abstract]ObjectiveTostudythecorrelationbetweensequencesimilarityfamily167A-Blymphatictyrosinekinase(FAM167A-BLK)genepolymorphismandrheumatoidarthritis(RA)diseaseactivity.MethodsAtotalof309RApatientsadmittedtoHenanPeople'sHospitalfromApril2016toSeptember2019weredividedintoalowactivitygroup(162cases)andahighactivitygroup(147cases)accordingtotheirdiseaseactivity.Thelowactivitygrouphad87malesD01：10.3760/cma.j.issn.l007-1245.2021.23.022收稿日期2021-07-23本文编辑刘玲玲引用本文：操弋,楚天舒.FAM167A-BLK基因彭态性与类风湿关节炎病情活动的相关性研究川.国际医药卫生导报,2021,27(23):3687-3691.DOI:10.3760/cma.j.issn.l007-1245.2021.23.022.and75females,andwere(45.24±8.33)yearold.Thehighactivitygrouphad70malesand77females,andwere(44.96±7.01)yearsold.Thegenotypesofthe4singlenucleotidepolymorphism(SNP)loci(rsl3277113,rs7812879,rs2736340,andrs2254546)weredetectedbytheMALDI-TOFMSsystem.ThegenotypingqualityandHard-Wcmbcrgequilibriumtestresultswereanalyzed,andthegenotypesandalleledistributionsoftheSNPlociwerecomparedbetweenthetwogroups.ResultsTheSNPlociofFAMI67A-BLKwerersl3277113,rs7812879,rs2736340,andrs2254546,andtheirtypingsuccessratesweregreaterthan90%.Intheexperiment,thecoincidencerateofrepeatedsampletypingresultswas100%,andallthepointswereinaccordancewiththeHard-Wembcrgequilibriumtestlaw(P=0.512,0.334,0.718,and1.0...