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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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
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author 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
author_facet 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
author_sort Danjou, Fabrice
collection PubMed
description 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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spelling pubmed-46275802016-05-01 GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS 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 Nat Genet Article 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. 2015-09-14 2015-11 /pmc/articles/PMC4627580/ /pubmed/26366553 http://dx.doi.org/10.1038/ng.3307 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
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
GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS
title GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS
title_full GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS
title_fullStr GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS
title_full_unstemmed GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS
title_short GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS
title_sort genome-wide association analyses based on whole-genome sequencing in sardinia provide insights into regulation of hemoglobin levels
topic Article
url 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
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