Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume

M.A.R. Ferreira, J.J. Hottenga, N.M. Warrington, S.E. Medland, G. Willemsen, R.W. Lawrence, S. Gordon, E.J.C. de Geus, A.K. Henders, J. H. Smit, M.J. Campbell, L. Wallace, D.M. Evans, M.J. Wright, DR Nyholt, A.L. James, J.P. Beilby, B.W.J.H. Penninx, L.J. Palmer, I.H. FrazerGW Montgomery, N.G. Martin, D.I. Boomsma

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Blood cells participate in vital physiological processes, and their numbers are tightly regulated so that homeostasis is maintained. Disruption of key regulatory mechanisms underlies many blood-related Mendelian diseases but also contributes to more common disorders, including atherosclerosis. We searched for quantitative trait loci (QTL) for hematology traits through a whole-genome association study, because these could provide new insights into both hemopoeitic and disease mechanisms. We tested 1.8 million variants for association with 13 hematology traits measured in 6015 individuals from the Australian and Dutch populations. These traits included hemoglobin composition, platelet counts, and red blood cell and white blood cell indices. We identified three regions of strong association that, to our knowledge, have not been previously reported in the literature. The first was located in an intergenic region of chromosome 9q31 near LPAR1, explaining 1.5% of the variation in monocyte counts (best SNP rs7023923, p = 8.9 × 10
Original languageEnglish
Pages (from-to)745-749
JournalAmerican journal of human genetics
Issue number5
Publication statusPublished - 2009

Cohort Studies

  • Netherlands Twin Register (NTR)

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