GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS

We report GWAS 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 are due to variants...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627580/
https://www.ncbi.nlm.nih.gov/pubmed/26366553
http://dx.doi.org/10.1038/ng.3307
Descripción
Sumario:We report GWAS 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 are due to variants at previously undetected loci: MPHOSPH9, PLTP-PCIF1, FOG1, NFIX, and CCND3. Among those at known loci, 10 are new lead variants and 4 are novel independent signals. Half of all variants also showed pleiotropic associations with different hemoglobins, which further corroborated some of the detected associations and revealed features of coordinated hemoglobin species production.

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