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

ABSTRACT: 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. Among the signals at known loci, ten are new lead variants and four are new independent signals. Half of all variants also showed pleiotropic associations with different hemoglobins, which further corroborated some of the detected associations and identified features of coordinated hemoglobin species production.

SUBMITTER: Danjou F

PROVIDER: S-EPMC4627580 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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

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

Nature genetics 20150914 11

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. Among the signals at known loci, ten are new lead variants and four are new independ ...[more]

PMID: 26366553

Dataset Information

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

Publications

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

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