Journal
NATURE
Volume 492, Issue 7429, Pages 369-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature11677
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Categories
Funding
- Austrian Science Fund FWF [I 434] Funding Source: Medline
- British Heart Foundation [RG/09/012/28096, RG/08/014/24067] Funding Source: Medline
- Cancer Research UK [14136] Funding Source: Medline
- Medical Research Council [G1000143, G0401527, MC_U106188470, G1002084, MC_U106179471, G0801056, G9815508, G0700704, G0600705] Funding Source: Medline
- NCATS NIH HHS [UL1 TR000439] Funding Source: Medline
- NCI NIH HHS [R01 CA165001] Funding Source: Medline
- NCRR NIH HHS [UL1 RR025005, U54 RR020278, K12 RR023250] Funding Source: Medline
- NHGRI NIH HHS [U01 HG004402] Funding Source: Medline
- NHLBI NIH HHS [P20 HL113452, R01 HL086694, HHSN268201100011C, HHSN268201100008C, R01 HL103866, R01 HL059367, R01 HL103931, R01 HL087679, HHSN268201100007C, HHSN268201100006C, U01 HL084756, HHSN268201100012C, P01 HL098055, R01 HL087641, R01 HL088119, HHSN268201100005C, HHSN268201100009C, U01 HL072515, P01 HL076491, HHSN268201100010C] Funding Source: Medline
- NIA NIH HHS [N01AG12109, R01 AG018728] Funding Source: Medline
- NICHD NIH HHS [R01 HD042157] Funding Source: Medline
- NIDA NIH HHS [HHSN271201100005C] Funding Source: Medline
- NIDDK NIH HHS [P30 DK072488] Funding Source: Medline
- NIGMS NIH HHS [R01 GM053275, U01 GM074518] Funding Source: Medline
- NIMH NIH HHS [RL1 MH083268, R01 MH081802, U24 MH068457] Funding Source: Medline
- NLM NIH HHS [R01 LM010098] Funding Source: Medline
- Wellcome Trust [092731, 097117] Funding Source: Medline
- Chief Scientist Office [ETM/55, CZB/4/505] Funding Source: Medline
- Department of Health [RP-PG-0310-1002] Funding Source: Medline
- MRC [G0801056, G0700704, G0600705, G1002084, MC_U106188470] Funding Source: UKRI
- Austrian Science Fund (FWF) [I 434] Funding Source: researchfish
- British Heart Foundation [RG/08/014/24067, RG/09/012/28096] Funding Source: researchfish
- Cancer Research UK [14136] Funding Source: researchfish
- Chief Scientist Office [CZB/4/505, ETM/55] Funding Source: researchfish
- Medical Research Council [G1000143, G0600705, G0700704B, G0801056, G1002084, MC_U106179471, G9815508, MC_U106188470, G0401527, G0700704, G0801056B] Funding Source: researchfish
- National Institute for Health Research [RP-PG-0310-1002, NF-SI-0611-10136, NF-SI-0611-10275] Funding Source: researchfish
- Wellcome Trust [096964/Z/11/Z] Funding Source: researchfish
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Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
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