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Title: Replication and characterization of association between ABO SNPs and red blood cell traits by meta-analysis in Europeans
Authors: Stela McLachlan
Claudia Giambartolomei
Jon White
Pimphen Charoen
Andrew Wong
Chris Finan
Jorgen Engmann
Tina Shah
Micha Hersch
Clara Podmore
Alana Cavadino
Barbara J. Jefferis
Caroline E. Dale
Elina Hypponen
Richard W. Morris
Juan P. Casas
Meena Kumari
Yoav Ben-Shlomo
Tom R. Gaunt
Fotios Drenos
Claudia Langenberg
Diana Kuh
Mika Kivimaki
Rico Rueedi
Gerard Waeber
Aroon D. Hingorani
Jacqueline F. Price
Ann P. Walker
Jackie Cooper
Ian N. Day
Maneka De Silva
Frank Dudbridge
Ghazaleh Fatemifar
Victoria Garfield
Steve E. Humphries
Debbie A. Lawlor
Teri Louise Davies
Vincent Plagnol
Christine Power
Sonia Shah
Reecha Sofat
Daniel I. Swerdlow
Philippa J. Talmud
Peter Whincup
John C. Whittaker
Delilah Zabaneh
University of Edinburgh
Icahn School of Medicine at Mount Sinai
London School of Hygiene & Tropical Medicine
Mahidol University
Universitat Lausanne Schweiz
Swiss Institute of Bioinformatics
University of Cambridge
Barts and The London School of Medicine and Dentistry
UCL Institute of Child Health
University of South Australia
South Australian Health and Medical Research Institute
University of Bristol
Institute for Social and Economic Research, University of Essex
Centre Hospitalier Universitaire Vaudois
University of London
GlaxoSmithKline plc.
Keywords: Agricultural and Biological Sciences;Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Jun-2016
Citation: PLoS ONE. Vol.11, No.6 (2016)
Abstract: © 2016 McLachlan et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Red blood cell (RBC) traits are routinely measured in clinical practice as important markers of health. Deviations from the physiological ranges are usually a sign of disease, although variation between healthy individuals also occurs, at least partly due to genetic factors. Recent large scale genetic studies identified loci associated with one or more of these traits; further characterization of known loci and identification of new loci is necessary to better understand their role in health and disease and to identify potential molecular mechanisms. We performed meta-analysis of Metabochip association results for six RBC traits - hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV) and red blood cell count (RCC) - in 11 093 Europeans from seven studies of the UCL-LSHTM-Edinburgh-Bristol (UCLEB) Consortium. We identified 394 non-overlapping SNPs in five loci at genome-wide significance: 6p22.1-6p21.33 (with HFE among others), 6q23.2 (with HBS1L among others), 6q23.3 (contains no genes), 9q34.3 (only ABO gene) and 22q13.1 (with TMPRSS6 among others), replicating previous findings of association with RBC traits at these loci and extending them by imputation to 1000 Genomes. We further characterized associations between ABO SNPs and three traits: hemoglobin, hematocrit and red blood cell count, replicating them in an independent cohort. Conditional analyses indicated the independent association of each of these traits with ABO SNPs and a role for blood group O in mediating the association. The 15 most significant RBC-associated ABO SNPs were also associated with five cardiometabolic traits, with discordance in the direction of effect between groups of traits, suggesting that ABO may act through more than one mechanism to influence cardiometabolic risk.
ISSN: 19326203
Appears in Collections:Scopus 2016-2017

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