| Title | Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. |
| Publication Type | Journal Article |
| Year of Publication | 2016 |
| Authors | Chami, 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 |
| Journal | Am J Hum Genet |
| Volume | 99 |
| Issue | 1 |
| Pagination | 8-21 |
| Date Published | 2016 Jul 07 |
| ISSN | 1537-6605 |
| 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 |
| DOI | 10.1016/j.ajhg.2016.05.007 |
| Alternate Journal | Am. J. Hum. Genet. |
| PubMed ID | 27346685 |
| PubMed Central ID | PMC5005438 |
| Grant List | R01 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 |