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Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.

TitleCommon and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Publication TypeJournal Article
Year of Publication2013
AuthorsJohnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, Green D, Peters U, Cushman M
Secondary AuthorsReiner AP
Corporate AuthorsNHLBI Exome Sequencing Project
JournalBlood
Volume122
Issue4
Pagination590-7
Date Published2013 Jul 25
ISSN1528-0020
KeywordsAdult, African Americans, Aged, Blood Chemical Analysis, Cohort Studies, Exome, Factor VIII, Female, Gene Frequency, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mutation, Missense, National Heart, Lung, and Blood Institute (U.S.), Open Reading Frames, Polymorphism, Single Nucleotide, United States, von Willebrand Factor, Young Adult
Abstract

Several rare European von Willebrand disease missense variants of VWF (including p.Arg2185Gln and p.His817Gln) were recently reported to be common in apparently healthy African Americans (AAs). Using data from the NHLBI Exome Sequencing Project, we assessed the association of these and other VWF coding variants with von Willebrand factor (VWF) and factor VIII (FVIII) levels in 4468 AAs. Of 30 nonsynonymous VWF variants, 6 were significantly and independently associated (P

DOI10.1182/blood-2013-02-485094
Alternate JournalBlood
PubMed ID23690449
PubMed Central IDPMC3724194
Grant ListRC2HL-102924 / HL / NHLBI NIH HHS / United States
HHSN268201100001I / HL / NHLBI NIH HHS / United States
RC2 HL102923 / HL / NHLBI NIH HHS / United States
RC2HL-102923 / HL / NHLBI NIH HHS / United States
RC2 HL102926 / HL / NHLBI NIH HHS / United States
HHSN271201100004C / / PHS HHS / United States
HHSN268201100001C / / PHS HHS / United States
HHSN268201100004I / HL / NHLBI NIH HHS / United States
HHSN268201100046C / HL / NHLBI NIH HHS / United States
HHSN268201100003C / WH / WHI NIH HHS / United States
R01 HL039693 / HL / NHLBI NIH HHS / United States
R01HL71862 / HL / NHLBI NIH HHS / United States
HHSN268200960009C / / PHS HHS / United States
HHSN268201100003C / / PHS HHS / United States
HHSN268201100004C / / PHS HHS / United States
RC2 HL102924 / HL / NHLBI NIH HHS / United States
R01 AG008122 / AG / NIA NIH HHS / United States
HHSN271201100004C / AG / NIA NIH HHS / United States
RC2HL-102926 / HL / NHLBI NIH HHS / United States
090532 / / Wellcome Trust / United Kingdom
HHSN268201100002C / WH / WHI NIH HHS / United States
R01 HL071862 / HL / NHLBI NIH HHS / United States
N01HC65226 / HL / NHLBI NIH HHS / United States
RC2HL-103010 / HL / NHLBI NIH HHS / United States
HHSN268201100046C / / PHS HHS / United States
RC2 HL103010 / HL / NHLBI NIH HHS / United States
RC2HL-102925 / HL / NHLBI NIH HHS / United States
HHSN268201100002I / HL / NHLBI NIH HHS / United States
HHSN268201100002C / / PHS HHS / United States
HHSN268201100001C / WH / WHI NIH HHS / United States
RC2 HL102925 / HL / NHLBI NIH HHS / United States
HHSN268201100004C / WH / WHI NIH HHS / United States
N01-HC-65226 / HC / NHLBI NIH HHS / United States