Linked Life Data

21153663

Source:http://linkedlifedata.com/resource/pubmed/id/21153663

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-2-10
pubmed:abstractText
Red blood cell, white blood cell, and platelet measures, including their count, sub-type and volume, are important diagnostic and prognostic clinical parameters for several human diseases. To identify novel loci associated with hematological traits, and compare the architecture of these phenotypes between ethnic groups, the CARe Project genotyped 49,094 single nucleotide polymorphisms (SNPs) that capture variation in ~2,100 candidate genes in DNA of 23,439 Caucasians and 7,112 African Americans from five population-based cohorts. We found strong novel associations between erythrocyte phenotypes and the glucose-6 phosphate dehydrogenase (G6PD) A-allele in African Americans (rs1050828, P<2.0×10(-13), T-allele associated with lower red blood cell count, hemoglobin, and hematocrit, and higher mean corpuscular volume), and between platelet count and a SNP at the tropomyosin-4 (TPM4) locus (rs8109288, P=3.0×10(-7) in Caucasians; P=3.0×10(-7) in African Americans, T-allele associated with lower platelet count). We strongly replicated many genetic associations to blood cell phenotypes previously established in Caucasians. A common variant of the ?-globin (HBA2-HBA1) locus was associated with red blood cell traits in African Americans, but not in Caucasians (rs1211375, P<7×10(-8), A-allele associated with lower hemoglobin, mean corpuscular hemoglobin, and mean corpuscular volume). Our results show similarities but also differences in the genetic regulation of hematological traits in European- and African-derived populations, and highlight the role of natural selection in shaping these differences.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1432-1203
pubmed:author
pubmed:copyrightInfo
© Springer-Verlag 2010
pubmed:issnType
Electronic
pubmed:volume
129
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
307-17
pubmed:meshHeading
pubmed-meshheading:21153663-African Americans, pubmed-meshheading:21153663-Alpha-Globulins, pubmed-meshheading:21153663-Blood Cell Count, pubmed-meshheading:21153663-Cohort Studies, pubmed-meshheading:21153663-Erythrocyte Count, pubmed-meshheading:21153663-Erythrocyte Indices, pubmed-meshheading:21153663-Erythrocytes, pubmed-meshheading:21153663-European Continental Ancestry Group, pubmed-meshheading:21153663-Female, pubmed-meshheading:21153663-Genetic Association Studies, pubmed-meshheading:21153663-Genetic Loci, pubmed-meshheading:21153663-Glucosephosphate Dehydrogenase, pubmed-meshheading:21153663-Hemoglobins, pubmed-meshheading:21153663-Humans, pubmed-meshheading:21153663-Male, pubmed-meshheading:21153663-Middle Aged, pubmed-meshheading:21153663-Platelet Count, pubmed-meshheading:21153663-Polymorphism, Single Nucleotide, pubmed-meshheading:21153663-Quantitative Trait, Heritable
pubmed:year
2011
pubmed:articleTitle
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.
pubmed:affiliation
Montreal Heart Institute, 5000 Bélanger Street, Montreal, QC, H1T 1C8, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural