Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Nat Genet 2009 Nov 11;41(11):1191-8. Epub 2009 Oct 11.

National Human Genome Research Institute, Division of Intramural Research, Bethesda, MD, USA.

Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). We performed an initial GWAS in cohorts of the CHARGE Consortium totaling 24,167 individuals of European ancestry and replication in additional independent cohorts of the HaemGen Consortium totaling 9,456 individuals. We identified 23 loci significantly associated with these traits in a meta-analysis of the discovery and replication cohorts (combined P values ranging from 5 x 10(-8) to 7 x 10(-86)). Our findings include loci previously associated with these traits (HBS1L-MYB, HFE, TMPRSS6, TFR2, SPTA1) as well as new associations (EPO, TFRC, SH2B3 and 15 other loci). This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures.

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http://dx.doi.org/10.1038/ng.466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778265PMC
November 2009
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References

(Supplied by CrossRef)
Article in Circulation
RJ Havlik et al.
Circulation 1980
Article in Hypertension
GS Tell et al.
Hypertension 1994
Article in Arch. Intern. Med.
NA Zakai et al.
Arch. Intern. Med. 2005
Article in Genet. Epidemiol.
JB Whitfield et al.
Genet. Epidemiol. 1985
Article in Twin Res.
DM Evans et al.
Twin Res. 1999
Article in Am. J. Hematol.
JP Lin et al.
Am. J. Hematol. 2007
Article in Am. J. Hematol.
CE McLaren et al.
Am. J. Hematol. 2007
Article in J. Gend. Specif. Med.
SM Zeng et al.
J. Gend. Specif. Med. 2001
Article in J. Gend. Specif. Med.
SM Zeng et al.
J. Gend. Specif. Med. 2003
Article in Blood
S Menzel et al.
Blood 2007
Article in J. Med. Genet.
A Iliadou et al.
J. Med. Genet. 2007

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