http://purl.uniprot.org/citations/19110211 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/19110211 | http://www.w3.org/2000/01/rdf-schema#comment | "Mean platelet volume (MPV) is increased in myocardial and cerebral infarction and is an independent and strong predictor for postevent morbidity and mortality. We conducted a genome-wide association study (GWAS), the KORA (Kooperative Gesundheitsforschung in der Region Augsburg) F3 500K study, and found MPV to be strongly associated with three common single-nucleotide polymorphisms (SNPs): rs7961894 located within intron 3 of WDR66 on chromosome 12q24.31, rs12485738 upstream of the ARHGEF3 on chromosome 3p13-p21, and rs2138852 located upstream of TAOK1 on chromosome 17q11.2. We replicated all three SNPs in another GWAS from the UK and in two population-based samples from Germany. In a combined analysis including 10,048 subjects, the SNPs had p values of 7.24 x 10(-48) for rs7961894, 3.81 x 10(-27) for rs12485738, and 7.19 x 10(-28) for rs2138852. These three quantitative trait loci together accounted for 4%-5% of the variance in MPV. In-depth sequence analysis of WDR66 in 382 samples from the extremes revealed 20 new variants and a haplotype with three coding SNPs and one SNP at the transcription start site associated with MPV (p = 6.8 x 10(-5)). In addition, expression analysis indicated a direct correlation of WDR66 transcripts and MPV. These findings may not only enhance our understanding of platelet activation and function, but may also provide a focus for several novel research avenues."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2008.11.015"xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Deloukas P."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Stephens J."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Lichtner P."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Koenig W."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Meisinger C."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Wichmann H.E."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Nauck M."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Rosskopf D."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Prokisch H."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Peters A."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Gieger C."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Illig T."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Watkins N.A."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Doring A."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Soranzo N."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Mehta D."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Ouwehand W.H."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Klopp N."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Volzke H."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Greinacher A."xsd:string |
http://purl.uniprot.org/citations/19110211 | http://purl.uniprot.org/core/author | "Rimmbach C."xsd:string |