Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study

  • Basu S
  • Tang W
  • Tan A
  • et al.
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Abstract

Protein C is an important endogenous anticoagulant in hemostasis. Deficiencies of protein C due to genetic mutations or a low level of circulating protein C increase the risk of venous thromboembolism. We performed a genome-wide association scan for plasma protein C antigen concentration with approximately 2.5 million single-nucleotide polymorphisms in 8048 individuals of European ancestry and a replication analysis in a separate sample of 1376 individuals in the Atherosclerosis Risk in Communities Study. Four independent loci from 3 regions were identified with genome-wide significance: 2p23 (GCKR, best SNP rs1260326, P = 2.04 x 10(-17)), 2q13-q14 (PROC, rs1158867, P = 3.77 x 10(-36)), 20q11 (near and within PROCR, rs8119351, P = 2.68 x 10(-203)), and 20q11.22 (EDEM2, rs6120849, P = 7.19 x 10(-37) and 5.23 x 10(-17) before and after conditional analysis, respectively). All 4 loci replicated in the independent sample. Furthermore, pooling the discovery and replication sets yielded an additional locus at chromosome 7q11.23 (BAZ1B, rs17145713, P = 2.83 x 10(-8)). The regions marked by GCKR, EDEM2, and BAZ1B are novel loci that have not been previously reported for association with protein C concentration. In summary, this first genome-wide scan for circulating protein C concentration identified both new and known loci in the general population. These findings may improve the understanding of physiologic mechanisms in protein C regulation.

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Basu, S., Tang, W., Tan, A., Boerwinkle, E., Folsom, A. R., Pankow, J. S., … Aleksic, N. (2010). Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. Blood, 116(23), 5032–5036. Retrieved from http://digitaal.uba.uva.nl:9003/uva-linker?sid=OVID:medline&id=pmid:20802025&id=doi:10.1182%2Fblood-2010-05-283739&issn=0006-4971&isbn=&volume=116&issue=23&spage=5032&pages=5032-6&date=2010&title=Blood&atitle=Genome-wide+association+study+identifies+novel

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