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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-11

AUTHORS

Fabrice Danjou, 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, Timothy D Spector, Lidia Leoni, Andrea Angius, Manuela Uda, Paolo Moi, Swee Lay Thein, Renzo Galanello, Gonçalo R Abecasis, David Schlessinger, Serena Sanna, Francesco Cucca

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. More... »

PAGES

1264-1271

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3307

    DOI

    http://dx.doi.org/10.1038/ng.3307

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1011866020

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26366553


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