Title | Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. |
Publication Type | Journal Article |
Year of Publication | 2013 |
Authors | Johnsen 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, Reiner AP |
Corporate Authors | NHLBI Exome Sequencing Project |
Journal | Blood |
Volume | 122 |
Issue | 4 |
Pagination | 590-7 |
Date Published | 2013 Jul 25 |
ISSN | 1528-0020 |
Keywords | Adult, 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 |
DOI | 10.1182/blood-2013-02-485094 |
Alternate Journal | Blood |
PubMed ID | 23690449 |
PubMed Central ID | PMC3724194 |
Grant List | RC2HL-102924 / HL / NHLBI NIH HHS / United States HHSN268201100004I / HL / NHLBI NIH HHS / United States HHSN268201100046C / HL / NHLBI NIH HHS / United States HHSN268201100003C / WH / WHI NIH HHS / United States HHSN268200960009C / / PHS HHS / United States HHSN271201100004C / AG / NIA NIH HHS / United States RC2HL-102926 / HL / NHLBI NIH HHS / United States RC2HL-103010 / HL / NHLBI NIH HHS / United States RC2 HL103010 / HL / NHLBI NIH HHS / United States HHSN268201100001C / WH / WHI NIH HHS / United States N01-HC-65226 / HC / 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 R01 HL039693 / HL / NHLBI NIH HHS / United States R01HL71862 / HL / NHLBI NIH HHS / United States RC2 HL102924 / HL / NHLBI NIH HHS / United States R01 AG008122 / AG / NIA NIH HHS / United States 090532 / WT_ / 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-102925 / HL / NHLBI NIH HHS / United States HHSN268201100002I / HL / NHLBI NIH HHS / United States RC2 HL102925 / HL / NHLBI NIH HHS / United States HHSN268201100004C / WH / WHI NIH HHS / United States |