Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

doi:10.1038/ng.3307

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Article

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

Nature genetics - 1 Nov 2015

Danjou Fabrice, Zoledziewska Magdalena, Sidore Carlo, Steri Maristella, Busonero Fabio, Maschio Andrea, Mulas Antonella, Perseu Lucia, Barella Susanna, Porcu Eleonora, Pistis Giorgio, Pitzalis Maristella, Pala Mauro, Menzel Stephan, Metrustry Sarah, Spector Timothy D, Leoni Lidia, Angius Andrea, Uda Manuela, Moi Paolo, Thein Swee Lay, Galanello Renzo, Abecasis Gonçalo R, Schlessinger David, Sanna Serena, Cucca Francesco

Abstract excerpt

We report genome-wide association study results for the levels of A1, A2 and fetal hemoglobins, analyzed for the first time concurrently. Integrating high-density array genotyping and whole-genome sequencing in a large general population cohort from Sardinia, we detected 23 associations at 10 loci. Five signals are due to variants at previously undetected loci: MPHOSPH9, PLTP-PCIF1, ZFPM1 (FOG1), NFIX and CCND3....

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Identifiers

PMID: 26366553
DOI: 10.1038/ng.3307
PMCID: PMC4627580

Genes

CCND3
MPHOSPH9
NFIX
PCIF1
PLTP
ZFPM1

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