Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Santhi K. Ganesh; Neil A. Zakai; Frank J. A. van Rooij; Nicole Soranzo; Albert V. Smith; Michael A. Nalls; Ming-Huei Chen; Anna Kottgen; Nicole L. Glazer; Abbas Dehghan; Brigitte Kuhnel; Thor Aspelund; Qiong Yang; Toshiko Tanaka; Andrew Jaffe; Joshua C. M. Bis; Germaine C. Verwoert; Alexander Teumer; Caroline S. Fox; Jack M. Guralnik; Georg B. Ehret; Kenneth Rice; Janine F. Felix; Augusto Rendon; Gudny Eiriksdottir; Daniel Levy; Kushang V. Patel; Eric Boerwinkle; Jerome I. Rotter; Albert Hofman; Jennifer G. Sambrook; Dena G. Hernandez; Gang Zheng; Stefania Bandinelli; Andrew B. Singleton; Josef Coresh; Thomas Lumley; Andre G. Uitterlinden; Janine M. vanGils; Lenore J. Launer; L. Adrienne Cupples; Ben A. Oostra; Jaap-Jan Zwaginga; Willem H. Ouwehand; Swee-Lay Thein; Christa Meisinger; Panos Deloukas; Matthias Nauck; Tim D. Spector; Christian Gieger; Vilmundur Gudnason; Cornelia M. van Duijn; Bruce M. Psaty; Luigi Ferrucci; Aravinda Chakravarti; Andreas Greinacher; Christopher J. O'Donnell; Jacqueline C. M. Witteman; Susan Furth; Mary Cushman; Tamara B. Harris; Jing-Ping Lin

doi:10.1038/ng.466

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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Journal article

Peer reviewed

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Santhi K. Ganesh, Neil A. Zakai, Frank J. A. van Rooij, Nicole Soranzo, Albert V. Smith, Michael A. Nalls, Ming-Huei Chen, Anna Kottgen, Nicole L. Glazer, Abbas Dehghan, …

Nature genetics, Vol.41(11), pp.1191-U48

01/11/2009

DOI: https://doi.org/10.1038/ng.466

PMCID: PMC2778265

PMID: 19862010

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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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Title: Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Creators - without role: Santhi K. Ganesh - Johns Hopkins University
Neil A. Zakai - University of Vermont
Frank J. A. van Rooij - Erasmus University Rotterdam
Nicole Soranzo - King's College London
Albert V. Smith - Iceland Heart Assoc, Kopavogur, Iceland
Michael A. Nalls
Ming-Huei Chen - Boston University
Anna Kottgen - Johns Hopkins University
Nicole L. Glazer - University of Washington
Abbas Dehghan - Erasmus University Rotterdam
Brigitte Kuhnel - Helmholtz Zentrum München
Thor Aspelund - University of Iceland
Qiong Yang - Boston University
Toshiko Tanaka - NIA, Longitudinal Studies Sect, Clin Res Branch, NIH, Baltimore, MD 21224 USA
Andrew Jaffe - Johns Hopkins University
Joshua C. M. Bis - University of Washington
Germaine C. Verwoert - Erasmus University Rotterdam
Alexander Teumer - University of Greifswald
Caroline S. Fox - National Institutes of Health
Jack M. Guralnik - National Institutes of Health
Georg B. Ehret - Geneva College
Kenneth Rice - University of Washington
Janine F. Felix - Erasmus University Rotterdam
Augusto Rendon - University of Cambridge
Gudny Eiriksdottir - Iceland Heart Assoc, Kopavogur, Iceland
Daniel Levy - National Institutes of Health
Kushang V. Patel - National Institutes of Health
Eric Boerwinkle - The University of Texas Health Science Center at Houston
Jerome I. Rotter - Cedars-Sinai Medical Center
Albert Hofman - Erasmus University Rotterdam
Jennifer G. Sambrook - University of Cambridge
Dena G. Hernandez - National Institutes of Health
Gang Zheng - National Institutes of Health
Stefania Bandinelli - Florence
Andrew B. Singleton - National Institutes of Health
Josef Coresh - Johns Hopkins University
Thomas Lumley - University of Washington
Andre G. Uitterlinden - Erasmus MC
Janine M. vanGils - Leiden University
Lenore J. Launer - National Institutes of Health
L. Adrienne Cupples - King's College London
Ben A. Oostra - Erasmus University Rotterdam
Jaap-Jan Zwaginga - Leiden University Medical Center
Willem H. Ouwehand - University of Cambridge
Swee-Lay Thein - King's College London
Christa Meisinger - Helmholtz Zentrum München
Panos Deloukas - Wellcome Sanger Institute
Matthias Nauck - University of Greifswald
Tim D. Spector - King's College London
Christian Gieger - Helmholtz Zentrum München
Vilmundur Gudnason - University of Iceland
Cornelia M. van Duijn - Erasmus University Rotterdam
Bruce M. Psaty - University of Washington
Luigi Ferrucci - National Institutes of Health
Aravinda Chakravarti - Johns Hopkins University
Andreas Greinacher - University of Greifswald
Christopher J. O'Donnell - Harvard University
Jacqueline C. M. Witteman - Erasmus University Rotterdam
Susan Furth - Johns Hopkins University
Mary Cushman - University of Vermont
Tamara B. Harris - National Institutes of Health
Jing-Ping Lin - Biostat
Publication Details: Nature genetics, Vol.41(11), pp.1191-U48
Publisher: Springer Nature
Number of pages: 10
Grant note: P30DK063491 / NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) R01 HL086694-02; R01 HL086694; R01 HL086694-01A1; R01 HL086694-03 / NHLBI NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) U01 DK066174; P30 DK063491; P30 DK063491-05; K24 DK078737; P30 DK063491-049004; P30 DK063491-019004; P30 DK063491-029004; P30 DK063491-039004 / NIDDK NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) G0000111 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) ZIAAG006000 / NATIONAL INSTITUTE ON AGING; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute on Aging (NIA) G0000111 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC); European Commission ZIAHL006094 / NATIONAL HEART, LUNG, AND BLOOD INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI)
Identifiers: 9937376308331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article