| Title | Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. |
| Publication Type | Journal Article |
| Year of Publication | 2015 |
| Authors | Huffman JE, de Vries PS, Morrison AC, Sabater-Lleal M, Kacprowski T, Auer PL, Brody JA, Chasman DI, Chen M-H, Guo X, Lin L-A, Marioni RE, Müller-Nurasyid M, Yanek LR, Pankratz N, Grove ML, de Maat MPM, Cushman M, Wiggins KL, Qi L, Sennblad B, Harris SE, Polasek O, Riess H, Rivadeneira F, Rose LM, Goel A, Taylor KD, Teumer A, Uitterlinden AG, Vaidya D, Yao J, Tang W, Levy D, Waldenberger M, Becker DM, Folsom AR, Giulianini F, Greinacher A, Hofman A, Huang C-C, Kooperberg C, Silveira A, Starr JM, Strauch K, Strawbridge RJ, Wright AF, McKnight B, Franco OH, Zakai N, Mathias RA, Psaty BM, Ridker PM, Tofler GH, Völker U, Watkins H, Fornage M, Hamsten A, Deary IJ, Boerwinkle E, Koenig W, Rotter JI, Hayward C, Dehghan A, Reiner AP, O'Donnell CJ |
| Secondary Authors | Smith NL |
| Journal | Blood |
| Volume | 126 |
| Issue | 11 |
| Pagination | e19-29 |
| Date Published | 2015 Sep 10 |
| ISSN | 1528-0020 |
| Keywords | Cohort Studies, Factor VII, Factor VIII, Fibrinogen, Gene Frequency, Genetic Association Studies, Genetic Variation, Humans, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Potassium Channels, Potassium Channels, Sodium-Activated, von Willebrand Factor |
| Abstract | Fibrinogen, coagulation factor VII (FVII), and factor VIII (FVIII) and its carrier von Willebrand factor (vWF) play key roles in hemostasis. Previously identified common variants explain only a small fraction of the trait heritabilities, and additional variations may be explained by associations with rarer variants with larger effects. The aim of this study was to identify low-frequency (minor allele frequency [MAF] ≥0.01 and |
| DOI | 10.1182/blood-2015-02-624551 |
| Alternate Journal | Blood |
| PubMed ID | 26105150 |
| PubMed Central ID | PMC4566813 |
| Grant List | ETM/55 / / Chief Scientist Office / United Kingdom CZB/4/505 / / Chief Scientist Office / United Kingdom R01 HL112064 / HL / NHLBI NIH HHS / United States R01 HL120393 / HL / NHLBI NIH HHS / United States P30 CA015704 / CA / NCI NIH HHS / United States R01 HL059367 / HL / NHLBI NIH HHS / United States UL1 TR000124 / TR / NCATS NIH HHS / United States MR/K026992/1 / / Medical Research Council / United Kingdom R01 HL105756 / HL / NHLBI NIH HHS / United States P30 DK063491 / DK / NIDDK NIH HHS / United States MC_PC_U127561128 / / Medical Research Council / United Kingdom UM1 CA182913 / CA / NCI NIH HHS / United States S10 OD020069 / OD / NIH HHS / United States G0700704 / / Medical Research Council / United Kingdom BB/F019394/1 / / Biotechnology and Biological Sciences Research Council / United Kingdom |