EGAGenomicsOtherhttps://ega-archive.org/studies/EGAS00001003645EGAEGA study EGAS00001003645GWAS results from Danjou et al, Nature Genetics 2015EGArestrictedWe 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.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 Fheredity., resultsSocial, Regulations, wide, Sardinia, wide/broad, Ferrous Hemoglobin, Genomes, Social Control, Ferrous., Formal Social Control, Associations, Control, haemoglobin, regulation, whole genome, vertebrate haemoglobin, broad, Hemoglobin, Controls, Eryhem, Regulation, Formal Social Controls, Social ControlsGenome-Wide Association, HDLCQ9, Effects, acetylglucosaminyltransferase-like protein, Genome Wide Association Analysis, Whole Genome Association Study, Mbp1, haemoglobin, Progress Reports, MPP-9, LARGE1, Long Term, froggy, Gyltl1a, B930097C17Rik, AL024085, School-Age, GWA Studies, Investigative, Summary Report, Associations, Studies, vertebrate haemoglobin, myd, Effect, Summary Reports, School-Age Populations, GWA Study, Ferrous, like-acetylglucosaminyltransferase, Progress Report, Genomes, Longterm, MDDGB6, GWA, PPP1R121, Mbp-1, Pcif1, LARGE, Long-Term, Population, Genome Wide Association Scan, Genome-Wide Association Studies, Study, Progress, BPFD#36, Sardinia, Field Reports, Bpife, ZC2HC11A, NF1-X, NFI-X, ZNF89A, Fog1, FOG1, Long-Term Effect, SOTOS2, 9630025B04Rik, School Age Population, Investigative Reports, Eryhem, Long-Term Effects, OD107, BPIFE, 9230106B05Rik, 4930548D04Rik, AW146355, gyltl1b-b, AI315626, C87456, Longterm Effect, ZNF408, MRSHSS, Hemoglobin, Genome-Wide, results, FOG, AW413446, Investigative Report, Genome Wide Association Study, MDDGA6, School Age, species., mKIAA0609, Research Reports, Long Term Effects, Whole Genome Association Analysis, KIAA0609, acetylglucosaminyltransferase-like 1A, fg, Populations, gyltl1b, NF1A, AA682053, Field, mdc1d, whole genome, C78795, NF-I|X, LARGE_HUMAN, School Age Populations, Genome Wide Association Studies, Longterm Effects, MDC1D, C20orf67, Report, Ferrous Hemoglobin, like-glycosyltransferase, enr, MPP9, Reports, Association Studies, microarray, CTF, Association Study, School-Age Population, Summary, AW547060, TEF2, Field Report, glycosyltransferase-like protein LARGE1Genome-Wide Association, HDLCQ9, Effects, acetylglucosaminyltransferase-like protein, Genome Wide Association Analysis, Whole Genome Association Study, Mbp1, haemoglobin, Progress Reports, MPP-9, LARGE1, Long Term, froggy, Gyltl1a, B930097C17Rik, AL024085, School-Age, GWA Studies, Investigative, Summary Report, Associations, Studies, vertebrate haemoglobin, myd, Effect, Summary Reports, School-Age Populations, GWA Study, Ferrous, like-acetylglucosaminyltransferase, Progress Report, Genomes, Longterm, MDDGB6, GWA, PPP1R121, Mbp-1, Pcif1, LARGE, Long-Term, Population, Genome Wide Association Scan, Genome-Wide Association Studies, Study, Progress, BPFD#36, Sardinia, Field Reports, Bpife, ZC2HC11A, NF1-X, NFI-X, ZNF89A, Fog1, FOG1, Long-Term Effect, SOTOS2, 9630025B04Rik, School Age Population, Investigative Reports, Eryhem, Long-Term Effects, OD107, BPIFE, 9230106B05Rik, 4930548D04Rik, AW146355, gyltl1b-b, AI315626, C87456, Longterm Effect, ZNF408, MRSHSS, Hemoglobin, Genome-Wide, results, FOG, AW413446, Investigative Report, Genome Wide Association Study, MDDGA6, School Age, species., mKIAA0609, Research Reports, Long Term Effects, Whole Genome Association Analysis, KIAA0609, acetylglucosaminyltransferase-like 1A, fg, Populations, gyltl1b, NF1A, AA682053, Field, mdc1d, whole genome, C78795, NF-I|X, LARGE_HUMAN, School Age Populations, Genome Wide Association Studies, Longterm Effects, MDC1D, C20orf67, Report, Ferrous Hemoglobin, like-glycosyltransferase, enr, MPP9, Reports, Association Studies, microarray, CTF, Association Study, School-Age Population, Summary, AW547060, TEF2, Field Report, glycosyltransferase-like protein LARGE1falseGWAS Results from Danjou et al, Nature Genetics 2015We 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.2019-07-17 13:53:20EGAS00001003645960626366553EGAD00010001722EGAC00001000590