RGD Reference Report - Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. - Rat Genome Database

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Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.

Authors: Trégouët, David-Alexandre  Heath, Simon  Saut, Noémie  Biron-Andreani, Christine  Schved, Jean-François  Pernod, Gilles  Galan, Pilar  Drouet, Ludovic  Zelenika, Diana  Juhan-Vague, Irène  Alessi, Marie-Christine  Tiret, Laurence  Lathrop, Mark  Emmerich, Joseph  Morange, Pierre-Emmanuel 
Citation: Trégouët DA, etal., Blood. 2009 May 21;113(21):5298-303. doi: 10.1182/blood-2008-11-190389. Epub 2009 Mar 10.
RGD ID: 401794563
Pubmed: PMID:19278955   (View Abstract at PubMed)
DOI: DOI:10.1182/blood-2008-11-190389   (Journal Full-text)

Venous thromboembolism (VTE) is a complex disease that has a major genetic component of risk. To identify genetic factors that may modify the risk of VTE, we conducted a genome-wide association study by analyzing approximately 317 000 single nucleotide polymorphisms (SNPs) in 453 VTE cases and 1327 controls. Only 3 SNPs located in the FV and ABO blood group genes were found associated with VTE at a genome-wide significant level of 1.7 x 10(-7). Detailed analysis of these SNPs in additional cohorts of more than 1700 cases and 1400 controls revealed that the association observed at the FV locus was the result of the increased risk mediated by the FV Leiden mutation, whereas O and A2 blood groups were found to be at lower risk for VTE. Apart from the FV and ABO loci, no other locus was found strongly associated with VTE. However, using this large cohort of subjects, we were able to replicate the mild effects of 2 nonsynonymous SNPs, rs1613662 in GP6 and rs13146272 in CYP4V2, recently suspected to be associated with VTE.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
GP6HumanVenous Thromboembolism  IAGP DNA:SNP:exon: (rs1613662) (human)RGD 
Gp6RatVenous Thromboembolism  ISORGD:1343427DNA:SNP:exon: (rs1613662) (human)RGD 
Gp6MouseVenous Thromboembolism  ISORGD:1343427DNA:SNP:exon: (rs1613662) (human)RGD 

Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
GP6HumanVenous thrombosis  IAGP DNA:SNP:exon: (rs1613662)RGD 

Genes (Rattus norvegicus)
Gp6  (glycoprotein VI)

Genes (Mus musculus)
Gp6  (glycoprotein 6 platelet)

Genes (Homo sapiens)
GP6  (glycoprotein VI platelet)