Pregled bibliografske jedinice broj: 459512
Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor : The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium
Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor : The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium // Circulation, 121 (2010), 12; 1382-1392 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 459512 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor : The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium
Autori
Smith, N.L. ; Chen, M.H. ; Dehghan, A. ; Strachan, D.P. ; Basu, S. ; Soranzo, N. ; Hayward, C. ; Rudan, Igor ; Sabater-Lleal, M. ; Bis, J.C. ; de Maat, M.P. ; Rumley, A. ; Kong, X. ; Yang, Q. ; Williams, F.M. ; Vitart, V. ; Campbell, H. ; Mälarstig, A. ; Wiggins, K.L. ; van Duijn, C.M. ; McArdle, W.L. ; Pankow, J.S. ; Johnson, A.D. ; Silveira, A. ; McKnight, B. ; Uitterlinden, A.G. ; Wellcome Trust Case Control Consortium ; Aleksić, N. ; Meigs, J.B. ; Peters, A. ; Koenig, W. ; Cushman, M. ; Kathiresan, S. ; Rotter, J.I. ; Bovill, E.G. ; Hofman, A. ; Boerwinkle, E. ; Tofler, G.H. ; Peden, J.F. ; Psaty, B.M. ; Leebeek, F. ; Folsom, A.R. ; Larson, M.G. ; Spector, T.D. ; Wright, A.F. ; Wilson, J.F. ; Hamsten, A. ; Lumley, T. ; Witteman, J.C. ; Tang, W. ; O'Donnell, C.J.
Izvornik
Circulation (0009-7322) 121
(2010), 12;
1382-1392
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
genome-wide association study; plasma levels; Factor VII; Factor VIII; von Willebrand Factor; genetic loci
Sažetak
Plasma levels of coagulation factors VII (FVII), VIII (FVIII), and von Willebrand factor (vWF) influence risk of hemorrhage and thrombosis. We conducted genome-wide association studies to identify new loci associated with plasma levels. The setting of the study included 5 community-based studies for discovery comprising 23 608 European-ancestry participants: Atherosclerosis Risk In Communities Study, Cardiovascular Health Study, British 1958 Birth Cohort, Framingham Heart Study, and Rotterdam Study. All subjects had genome-wide single-nucleotide polymorphism (SNP) scans and at least 1 phenotype measured: FVII activity/antigen, FVIII activity, and vWF antigen. Each study used its genotype data to impute to HapMap SNPs and independently conducted association analyses of hemostasis measures using an additive genetic model. Study findings were combined by meta-analysis. Replication was conducted in 7604 participants not in the discovery cohort. For FVII, 305 SNPs exceeded the genome-wide significance threshold of 5.0x10(-8) and comprised 5 loci on 5 chromosomes: 2p23 (smallest P value 6.2x10(-24)), 4q25 (3.6x10(-12)), 11q12 (2.0x10(-10)), 13q34 (9.0x10(-259)), and 20q11.2 (5.7x10(-37)). Loci were within or near genes, including 4 new candidate genes and F7 (13q34). For vWF, 400 SNPs exceeded the threshold and marked 8 loci on 6 chromosomes: 6q24 (1.2x10(-22)), 8p21 (1.3x10(-16)), 9q34 (<5.0x10(-324)), 12p13 (1.7x10(-32)), 12q23 (7.3x10(-10)), 12q24.3 (3.8x10(-11)), 14q32 (2.3x10(-10)), and 19p13.2 (1.3x10(-9)). All loci were within genes, including 6 new candidate genes, as well as ABO (9q34) and VWF (12p13). For FVIII, 5 loci were identified and overlapped vWF findings. Nine of the 10 new findings were replicated. New genetic associations were discovered outside previously known biological pathways and may point to novel prevention and treatment targets of hemostasis disorders.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita
POVEZANOST RADA
Projekti:
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Polašek, Ozren, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Split
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE