Published in
Nature Research, Nature Genetics, 11(47), p. 1264-1271, 2015
DOI: 10.1038/ng.3307
Links
- ORCID
- ORCID
- ORCID
- ORCID
- Nature Research | PDF
- [hdl.handle.net]
- [hdl.handle.net]
- [europepmc.org] | PDF
- [kclpure.kcl.ac.uk] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [kclpure.kcl.ac.uk] | PDF
Tools
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
,
Magdalena Zoledziewska,
Carlo Sidore,
Maristella Steri ,
Fabio Busonero,
Andrea Maschio,
Antonella Mulas,
Lucia Perseu,
Susanna Barella,
Eleonora Porcu,
Giorgio Pistis,
Maristella Pitzalis,
Mauro Pala,
Stephan Menzel,
Sarah Metrustry
and other authors.
Full text: Download
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.