biostudies-literaturePistis GIntramural NIH HHSNIA NIH HHSMedical Research CouncilNHLBI NIH HHSNIMHD NIH HHSWellcome TrustNIGMS NIH HHSBiotechnology and Biological Sciences Research Councile69206https://www.ebi.ac.uk/biostudies/studies/S-EPMC3729833biostudies-literatureUnknown8(7)The red blood cell related traits are highly heritable but their genetics are poorly defined. Only 5-10% of the total observed variance is explained by the genetic loci found to date, suggesting that additional loci should be searched using approaches alternative to large meta analysis. GWAS (Genome Wide Association Study) for red blood cell traits in a founder population cohort from Northern Italy identified a new locus for mean corpuscular hemoglobin concentration (MCHC) in the TAF3 gene. The association was replicated in two cohorts (rs1887582, P = 4.25E-09). TAF3 encodes a transcription cofactor that participates in core promoter recognition complex, and is involved in zebrafish and mouse erythropoiesis. We show here that TAF3 is required for transcription of the SPTA1 gene, encoding aPloS oneGenome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.PMC3729833R01GM033977N01.AG. 12100N01.AG.916413R01 MD009164N01.AG. 821336T34 GM008574263 MD 821336G0000111R01 GM033977R01 HL105756263 MD 9164 13Toniolo DPsaty BMRotter JIUitterlinden AGRice KBoerwinkle EGudnason VMasciullo CPirastu NGasparini POkonkwo SUPistis GSpector TDHart DFerrucci LGreen MROostra BAFurth SHernandez DDehghan AKottgen AZakai NAPatel KVMassacane Rvan Duijn CMTraglia MVerwoert GLevy DHarris TBCupples LYang QLin JThein SLNalls MLumley TFox CSGanesh SEiriksdottir GAspelund TTanaka THofman AMangino MEhret GSmith AVZheng GSoranzo NChakravarti ACamaschella CSingleton ABCushman MGanesh SKSala CJaffe ACHARGE Consortium Hematology WorkingBis JCCoresh Jvan Rooij FJWitteman JCChen MHLauner LJBuetti IGlazer NLGuralnik JMO' Donnell CJShin SYfalseGenome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.The red blood cell related traits are highly heritable but their genetics are poorly defined. Only 5-10% of the total observed variance is explained by the genetic loci found to date, suggesting that additional loci should be searched using approaches alternative to large meta analysis. GWAS (Genome Wide Association Study) for red blood cell traits in a founder population cohort from Northern Italy identified a new locus for mean corpuscular hemoglobin concentration (MCHC) in the TAF3 gene. The association was replicated in two cohorts (rs1887582, P = 4.25E-09). TAF3 encodes a transcription cofactor that participates in core promoter recognition complex, and is involved in zebrafish and mouse erythropoiesis. We show here that TAF3 is required for transcription of the SPTA1 gene, encoding a2013-01-01T00:00:00Z20132026-05-30T02:18:56.47Z2026-04-08T06:34:20.216ZS-EPMC37298332393595610.1371/journal.pone.0069206