title: A genetic risk factor for thrombophilia in a Han Chinese family.
abstract: Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well‑known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I‑2, II‑2, II‑3 and III‑1) had a history of deep venous thromboembolism. The disease was measured in this family using laboratory measurements and computed tomography angiography. To identify the abnormality underlying the increased thrombophilia risk, whole‑exome sequencing technology was used to analyze two affected individuals (II‑2 and III‑1). An exonic missense F2 mutation, T165M (NM_000506:c.C494T:p.T165M;rs5896), was identified from a total of 2,222 and 2,203 genetic variations observed in the two affected individuals, respectively, which were subsequently filtered and confirmed using Sanger sequencing. I‑2, II‑3 and III‑1 shared this mutation with the proband (II‑2), and II‑6 had a heterozygous form of the mutation. This deleterious mutation was not identified in normal controls. The present study may improve understanding of the function of the F2 gene.
authors.affiliation: Central Laboratory, Shenzhen Pingshan People's Hospital, Shenzhen, Guangdong 518118, P.R. China.
authors.forename: Guoping
authors.initials: G
authors.lastname: Sun
authors.affiliation: Department of Genetics, The Life Science College, Guangxi Normal University, Guilin, Guangxi 541002, P.R. China.
authors.forename: Yicong
authors.initials: Y
authors.lastname: Jia
authors.affiliation: Department of Hematology, The Third People's Hospital of Shenzhen, Shenzhen, Guangdong 518020, P.R. China.
authors.forename: Jingye
authors.initials: J
authors.lastname: Meng
authors.affiliation: Department of Nephrology, Guilin 181st Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.
authors.forename: Minglin
authors.initials: M
authors.lastname: Ou
authors.affiliation: Central Laboratory, Shenzhen Pingshan People's Hospital, Shenzhen, Guangdong 518118, P.R. China.
authors.forename: Peng
authors.initials: P
authors.lastname: Zhu
authors.affiliation: Department of Nephrology, Guilin 181st Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.
authors.forename: Shan
authors.initials: S
authors.lastname: Cong
authors.affiliation: Department of Nephrology, Guilin 181st Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.
authors.forename: Yadan
authors.initials: Y
authors.lastname: Luo
authors.affiliation: Department of Nephrology, Guilin 181st Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.
authors.forename: Weiguo
authors.initials: W
authors.lastname: Sui
authors.affiliation: Clinical Medical Research Center, The Second Clinical Medical College, Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong 518020, P.R. China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Dai
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001777:Blood Coagulation; D000072226:Computed Tomography Angiography; D017124:Conserved Sequence; D005006:Ethnicity / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005190:Family; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D013045:Species Specificity; D019851:Thrombophilia / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D011516:Prothrombin