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学科主题: 临床医学
题名:
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes
作者: Wang, Q. Y.1,2; Song, J.3; Gibbs, R. A.2,4; Boerwinkle, E.2,5; Dong, J. F.3,6; Yu, F. L.2,4
关键词: 1000 Genomes Project ; ethnic diversity ; VWD ; VWF variants
刊名: JOURNAL OF THROMBOSIS AND HAEMOSTASIS
发表日期: 2013-02-01
DOI: 10.1111/jth.12093
卷: 11, 期:2, 页:261-269
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Hematology ; Peripheral Vascular Disease
研究领域[WOS]: Hematology ; Cardiovascular System & Cardiology
关键词[WOS]: SINGLE-NUCLEOTIDE-POLYMORPHISM ; HUMAN VONWILLEBRAND-FACTOR ; FACTOR-VIII ; FACTOR VWF ; HEMOSTATIC FACTORS ; DISEASE ; POPULATION ; DIAGNOSIS ; MUTATION ; MAP
英文摘要:

Background The von Willebrand factor (VWF) gene is highly polymorphic, with variants correlated with VWF antigen levels, adhesion activity, clearance and factor VIII binding. VWF mutations are detected in patients with von Willebrand disease (VWD), whereas polymorphic variants could be associated with thrombosis. However, information on the ethnic diversity of VWF variants and their association with diseases is limited. Objectives To characterize novel VWF variants from different ethnicities in the general population. Patients/Methods We analyzed samples from 1092 subjects of 14 ethnicities available in the 1000 Genomes database for VWF variants and their potential functional impacts. Results We identified 2728 SNPs and 91 insertions and deletions that had a high level of ethnic diversity, with Africans having the highest number of variants. The highest level of diversity was found in the D and D2 domains. Among 94 non-synonymous variants, 31 were predicted to be deleterious, including 19 that were previously associated with VWD. Most of these VWD variants′ had allele frequencies consistent with disease incidence in European subjects, but some had a significantly higher frequency in other ethnicities. The mutations R2185Q, H817Q and M740I associated with type 1 and type 2N VWD were present in more than 13% of African subjects. Conclusions These results highlight the complexity of VWF variations in different ethnic groups and emphasize the importance of interrogating variations on multiple ethnic backgrounds for associations with bleeding and thrombosis.

语种: 英语
所属项目编号: HG003273 ; HG005211-01 ; MH089175 ; HL71895 ; HL085769
项目资助者: National Institute of Health
WOS记录号: WOS:000314922300005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62399
Appears in Collections:北京大学临床肿瘤学院_遗传学研究室_期刊论文

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作者单位: 1.Peking Univ Canc Hosp & Inst, Genet Lab, Minist Educ, Key Lab Carcinogenesis & Translat Res, Beijing, Peoples R China
2.Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
3.Univ Washington, Sch Med, Dept Med, Div Hematol, Seattle, WA 98195 USA
4.Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
5.Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX USA
6.Puget Sound Blood Ctr, Seattle, WA 98104 USA

Recommended Citation:
Wang, Q. Y.,Song, J.,Gibbs, R. A.,et al. Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes[J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS,2013,11(2):261-269.
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