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Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
Journal article published in 2016 by
Nathalie Chami,
Ming-Huei Chen,
Andrew J. J. (Andrew J.) Slater,
James G. F. (James) Wilson,
John D. D. (John D.) Eicher,
Evangelos Evangelou 
,
Salman M. M. (Salman M.) Tajuddin,
Chen Mh,
Latisha Love-Gregory,
Tim Kacprowski,
Ursula M. M. (Ursula) Schick,
V. S. (Shane) Pankratz,
Akihiro Nomura,
Ayush Giri,
Jennifer A. Brody
and other authors.
,
Salman M. M. (Salman M.) Tajuddin,
Chen Mh,
Latisha Love-Gregory,
Tim Kacprowski,
Ursula M. M. (Ursula) Schick,
V. S. (Shane) Pankratz,
Akihiro Nomura,
Ayush Giri,
Jennifer A. Brody
and other authors.
Abstract
Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 × 10−10 for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p