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 F-cell distribution. The EFO term fetal 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: fetal hemoglobin measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

S Menzel, C Garner, I Gut, F Matsuda, M Yamaguchi, S Heath, M Foglio, D Zelenika, A Boland, H Rooks, S Best, TD Spector, M Farrall, M Lathrop, SL Thein

TITLE:

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

JOURNAL:

Nature genetics Oct 2007, Vol 39, pp. 1197-9

ABSTRACT:

F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and beta thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance. PUBMED: 17767159
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