Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population 英文参考文献.docVIP

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Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population 英文参考文献.doc

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Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population 英文参考文献

GeneticBackgroundAnalysisofProteinCDeficiency DemonstratesaRecurrentMutationAssociatedwith VenousThrombosisinChinesePopulation LiangTang1,2,3,TaoGuo1,2,3,RuiYang1,2,3,HengMei1,2,3,HuafangWang1,2,3,XuanLu1,2,3 JianmingYu1,2,3,QingyunWang1,2,3,YuHu1,2,3 , * 1InstituteofHematology,UnionHospital,TongjiMedicalCollege,HuazhongUniversityofScienceandTechnology,Wuhan,Hubei,People’sRepublicofChina,2Hubei ClinicalandResearchCenterofThrombosisandHemostasis,Wuhan,Hubei,People’sRepublicofChina,3TargetedBiotherapyKeyLaboratoryofMinistryofEducation, Wuhan,Hubei,People’sRepublicofChina Abstract Background:ProteinC(PC)isoneofthemostimportantphysiologicalinhibitorsofcoagulationproteases.HereditaryPC deficiencycausesapredispositiontovenousthrombosis(VT).ThegeneticcharacteristicsofPCdeficiencyintheChinese populationremainunknown. Methods: Thirty-four unrelated probands diagnosed with hereditary PC deficiency were investigated. PC activity and antigenlevelsweremeasured.MutationanalysiswasperformedbysequencingthePROCgene.Insilicoanalyses,including PolyPhen-2, SIFT, multiple sequence alignment, splicing prediction, and protein molecular modeling were performed to predicttheconsequencesofeachvariantidentified.Onerecurrentmutationanditsrelativeriskforthrombosisinrelatives wereanalyzedin11families.Therecurrentmutationwassubsequentlydetectedinacase(VTpatients)-controlstudy,and theadjustedoddsratio(OR)forVTriskwascalculatedbylogisticregressionanalysis. Results: A total of 18 different mutations, including 12 novel variants, were identified. One common mutation, PROC c.565C.T (rs146922325:C.T), was found in 17 of the 34 probands. The family study showed that first-degree relatives bearingthisvarianthadan8.8-fold(95%CI=1.1–71.6)increasedriskofvenousthrombosis.Thecase-control(1003vs.1031) study identified this mutation in 5.88% patients and in 0.87% controls, respectively. The mutant allele conferred a high predispositiontovenousthrombosis(adjustedOR=7.34,95%CI=3.61–14.94).TheplasmaPCactivityan