γ干扰素基因多态性与自身免疫性甲状腺疾病易感性的关系.pdf

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1、·506·徐州医学院学报ACTAACADEMIAEMEDICINAEXUZHOU2014，34(8)干扰素基因多态性与自身免疫性甲状腺疾病易感性的关系龚莹，梁军，刘学奎，王玉，司冬芹，杜振玲(徐州市中心医院内分泌科，江苏徐州221009)摘要：目的探讨^y干扰素(IFN一)基因多态性与自身免疫性甲状腺疾病(autoinmunethyroiddisease，AI—TD)发病易感性的关系。方法选择汉族弥漫性毒性甲状腺肿(Gravesdisease，GD)患者(GD组)、桥本甲状腺炎(Hashimotothyroiditis，HT)患者(HT组)和正常人(对照组)各100例，采用

2、序列特异性引物聚合酶链反应检测等位基因和基因型。结果GD组IFN一基因+874位点A等位基因的频率明显高于对照组(83．5％VS．70．5％，P<0．01)；GD组IFN一+874AA基因型频率显著高于对照组(72．0％VS．51，O％，P<0．01)。HT组中IFN一+874位点A及T等位基因的频率与对照组之间的差异无统计学意义(P>0．05)。结论在中国汉族人群中，GD患者和正常人之间存在IFN一基因+874位点A等位基因分布的差异。IFN一基因+874位点单核苷酸多态性可能是GD的易感因素。关键词：自身免疫性甲状腺疾病；干扰素；基因多态性中图分类号：R581．1；R5

3、81．4文献标志码：A文章编号：1000—2065(2014)08—0506—04Associationofinterferon—genepolymorphismsthsusceptibilitytoautoinmunethyroiddiseaseGONGYing，LIANGJun，LIUXuekui，WANGYu，SIDongqin，DUZhenling(DepartmentofEndocrinology，theCentralHospitalofXuzhou，Xuzhou，Jiangsu221009，China)Abstract：ObjectiveToexplorethe

4、relationshipbetweenthesinglenucleotidepolymorphismofinterferon一(INF一)gene十874siteandsusceptibilitytoautoinmunethyroiddisease．MethodsOnehundredpatientswithGravesdisease(GDgroup)，100patientswithHashimotothyroiditis(HTgroup)，and100raciallymatchedhealthycon—trois(controlgroup)werestudied．Allth

5、esubjectswerefromChineseHanpopulation．Allelesandgenotypesweredeter-minedbypolymerasechainreactionandsequencespecificprimers(PCR—SS)．ResultsThefrequencyofthevariantAalleleintheINF一gene+874siteintheGDgroupwassignificantlyhigherthanthatinthecontrolgroup(83．5％VS．70．5％，P<0．01)．Thefrequencyofthe

6、AAgenotypeintheINF一^ygene+874siteintheGDgroupwassignificantlyhigherthanthatinthecontrolgroup(72．0％VS．51．0％，P<0．01)．ButthefrequencyofthevariantAandTalleleintheINF一gene+874siteshowednostatisticallysignificantdifferencebetweentheHTgroupandthecontrolgroup(P>0．05)．ConclusionInChineseHanpopulati

7、on，therearedifferencesbetweenGDpatientsandcontrolsforfrequen—ciesofAalleleinINF一gene+874site．Interferon一-ygene+874sitesinglenucleotidepolymorphismmaycontributetoincreasingthesusceptibilitytoGD．Keywords：autoinmunethyroiddisease；interferon一^y；genepolymorphism自身免