Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

 
TitleExome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Publication TypeJournal Article
Year of Publication2016
AuthorsChami, N, Chen, M-H, Slater, AJ, Eicher, JD, Evangelou, E, Tajuddin, SM, Love-Gregory, L, Kacprowski, T, Schick, UM, Nomura, A, Giri, A, Lessard, S, Brody, JA, Schurmann, C, Pankratz, N, Yanek, LR, Manichaikul, A, Pazoki, R, Mihailov, E, W Hill, D, Raffield, LM, Burt, A, Bartz, TM, Becker, DM, Becker, LC, Boerwinkle, E, Bork-Jensen, J, Bottinger, EP, O'Donoghue, ML, Crosslin, DR, de Denus, S, Dube, M-P, Elliott, P, Engström, G, Evans, MK, Floyd, JS, Fornage, M, Gao, H, Greinacher, A, Gudnason, V, Hansen, T, Harris, TB, Hayward, C, Hernesniemi, J, Highland, HM, Hirschhorn, JN, Hofman, A, Irvin, MR, Kähönen, M, Lange, E, Launer, LJ, Lehtimäki, T, Li, J, Liewald, DCM, Linneberg, A, Liu, Y, Lu, Y, Lyytikäinen, L-P, Mägi, R, Mathias, RA, Melander, O, Metspalu, A, Mononen, N, Nalls, MA, Nickerson, DA, Nikus, K, O'Donnell, CJ, Orho-Melander, M, Pedersen, O, Petersmann, A, Polfus, L, Psaty, BM, Raitakari, OT, Raitoharju, E, Richard, M, Rice, KM, Rivadeneira, F, Rotter, JI, Schmidt, F, Smith, AVernon, Starr, JM, Taylor, KD, Teumer, A, Thuesen, BH, Torstenson, ES, Tracy, RP, Tzoulaki, I, Zakai, NA, Vacchi-Suzzi, C, van Duijn, CM, van Rooij, FJA, Cushman, M, Deary, IJ, Edwards, DRVelez, Vergnaud, A-C, Wallentin, L, Waterworth, DM, White, HD, Wilson, JG, Zonderman, AB, Kathiresan, S, Grarup, N, Esko, T, Loos, RJF, Lange, LA, Faraday, N, Abumrad, NA, Edwards, TL, Ganesh, SK, Auer, PL, Johnson, AD, Reiner, AP, Lettre, G
JournalAm J Hum Genet
Volume99
Issue1
Pagination8-21
Date Published2016 Jul 07
ISSN1537-6605
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

DOI10.1016/j.ajhg.2016.05.007
Alternate JournalAm. J. Hum. Genet.
PubMed ID27346685
PubMed Central IDPMC5005438
Grant ListR01 DK060022 / DK / NIDDK NIH HHS / United States
R01 HL107816 / HL / NHLBI NIH HHS / United States
UL1 TR000124 / TR / NCATS NIH HHS / United States
P30 DK063491 / DK / NIDDK NIH HHS / United States
R21 HL121422 / HL / NHLBI NIH HHS / United States