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

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 β 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.

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Figure 1: Association statistics (−log10(P)) for individuals included in the genome-wide screening panel.

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Acknowledgements

We thank C. Steward for help in preparation of the manuscript. This work was supported by a grant from the UK Medical Research Council (MRC; G0000111 and ID 51640) to S.L.T. and by the French Ministry of Higher Education and Research (M.L.). Twins UK is supported by the Wellcome Trust and Framework V EU (European Union) grant 'Genome EU Twin'.

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Contributions

S.M. performed research, analyzed data and wrote the paper; C.G. analyzed data; M.Y. and M. Foglio performed bioinformatics analyses; I.G. and S.H. performed genome-wide association genotyping; D.Z., A.B., H.R., and S.B. performed research; T.D.S. contributed material; M. Farrall performed statistical genetic analysis and wrote the paper; M.L. codirected the research, analyzed data and wrote the paper; S.L.T. codirected the research and wrote the paper.

Corresponding author

Correspondence to Swee Lay Thein.

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Supplementary Methods, Supplementary Tables 1–4, Supplementary Figures 1–3 (PDF 900 kb)

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Menzel, S., Garner, C., Gut, I. et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet 39, 1197–1199 (2007). https://doi.org/10.1038/ng2108

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