DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Hemoglobin. The EFO term hemoglobin measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: hemoglobin measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

JC Chambers, W Zhang, Y Li, J Sehmi, MN Wass, D Zabaneh, C Hoggart, H Bayele, MI McCarthy, L Peltonen, NB Freimer, SK Srai, PH Maxwell, MJ Sternberg, A Ruokonen, G Abecasis, MR Jarvelin, J Scott, P Elliott, JS Kooner

TITLE:

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

JOURNAL:

Nature genetics Nov 2009, Vol 41, pp. 1170-2

ABSTRACT:

We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95% CI 0.09-0.17) g/dl lower per copy of allele A (P = 1.6 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance. PUBMED: 19820698
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