Genetic Variation of Promoter Sequence Modulates XBP1 Expression and Genetic Risk for Vitiligo 英文参考文献.docVIP

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Genetic Variation of Promoter Sequence Modulates XBP1 Expression and Genetic Risk for Vitiligo 英文参考文献.doc

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Genetic Variation of Promoter Sequence Modulates XBP1 Expression and Genetic Risk for Vitiligo 英文参考文献

GeneticVariationofPromoterSequenceModulatesXBP1 ExpressionandGeneticRiskforVitiligo YunqingRen1,2,SenYang1,2,ShengxinXu1,2,MinGao1,2,WeiHuang3,TianwenGao4,QiaoyunFang1,2, ChengQuan1,2,ChiZhang1,2,LiangdanSun1,2,YanhuaLiang1,2,JianwenHan1,2,ZhiminWang3 ,Fengyu Zhang1,2,YouwenZhou1,2,5,JianjunLiu1,2,6*,XuejunZhang1,2 * 1Institute of Dermatologyand Department ofDermatology atNo. 1Hospital, Anhui Medical University, Hefei, Anhui, China, 2The Key Laboratory ofGene Resource UtilizationforSevereDiseases,MinistryofEducationandAnhuiProvince,Hefei,Anhui,China,3ChineseNationalHumanGenomeCenteratShanghai,Shanghai,China, 4DepartmentofDermatologyofXijingHospital,FourthMilitaryMedicalUniversity,Xi’an,Shanxi,China,5DepartmentofDermatologyandSkinScience,Universityof BritishColumbia,Vancouver,BritishColumbia,Canada,6HumanGenetics,GenomeInstituteofSingapore,Singapore Abstract Ourpreviousgenome-widelinkageanalysisidentifiedasusceptibilitylocusforgeneralizedvitiligoon22q12.Tosearchfor susceptibilitygeneswithinthelocus,weinvestigatedabiologicalcandidategene,X-boxbindingprotein1(XBP1).First,we sequencedalltheexons,exon-intronboundariesaswellassome59and39flankingsequencesofXBP1in319casesand294 controls of Chinese Hans. Of the 8 common variants identified, the significant association was observed at rs2269577 (p_trend=0.007,OR=1.36,95%CI=1.09–1.71),aputativeregulatorypolymorphismwithinthepromoterregionofXBP1.We thensequencedthevariantinanadditional365casesand404controlsandfoundsupportingevidencefortheassociation (p_trend=0.008, OR=1.31, 95% CI=1.07–1.59). To further validate the association, we genotyped the variant in another independentsampleof1,402casesand1,288controls,including94parent-childtrios,andconfirmedtheassociationby bothcase-controlanalysis(p_trend=0.003,OR=1.18,95%CI=1.06–1.32)andthefamily-basedtransmissiondisequilibrium test(TDT,p=0.005,OR=1.93,95%CI=1.21–3.07).Theanalysisofthecombined2,086casesand1,986controlsprovided highly significant evidence for the association (p_tren