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Volumn 13, Issue 4, 2017, Pages

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos

(27)  Hodonsky, Chani J a   Jain, Deepti b   Schick, Ursula M c,d   Morrison, Jean V b   Brown, Lisa b   McHugh, Caitlin P b,e   Schurmann, Claudia c   Chen, Diane D f   Liu, Yong Mei g   Auer, Paul L h   Laurie, Cecilia A b   Taylor, Kent D i   Browning, Brian L b   Li, Yun a,j,k   Papanicolaou, George l   Rotter, Jerome I i   Kurita, Ryo m   Nakamura, Yukio n,o   Browning, Sharon R b   Loos, Ruth J F c   more..


Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBULIN; CELL PROTEIN; HEMOGLOBIN; LINC01184 PROTEIN; LONG UNTRANSLATED RNA; SODIUM POTASSIUM CHLORIDE COTRANSPORTER 1; UNCLASSIFIED DRUG; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN BETA CHAIN; HOMEODOMAIN PROTEIN; LONG NONCODING RNA LINC01186, HUMAN; PROSPERO-RELATED HOMEOBOX 1 PROTEIN; PROTEASOME; PSMB5 PROTEIN, HUMAN; SLC12A2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

EID: 85018386745     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1006760     Document Type: Article
Times cited : (38)

References (71)
  • 1
    • 22144472981 scopus 로고    scopus 로고
    • Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume
    • 15790781, PubMed Central PMCID: PMCPMC1895180
    • Beutler E, West C, Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume. Blood. 2005;106(2):740–5. PubMed Central PMCID: PMCPMC1895180. doi: 10.1182/blood-2005-02-0713 15790781
    • (2005) Blood , vol.106 , Issue.2 , pp. 740-745
    • Beutler, E.1    West, C.2
  • 2
    • 59649085891 scopus 로고    scopus 로고
    • Correlates of anemia in American blacks and whites: the REGARDS Renal Ancillary Study
    • 19066309, PubMed Central PMCID: PMCPMC2720717
    • Zakai NA, McClure LA, Prineas R, Howard G, McClellan W, Holmes CE, et al. Correlates of anemia in American blacks and whites: the REGARDS Renal Ancillary Study. Am J Epidemiol. 2009;169(3):355–64. PubMed Central PMCID: PMCPMC2720717. doi: 10.1093/aje/kwn355 19066309
    • (2009) Am J Epidemiol , vol.169 , Issue.3 , pp. 355-364
    • Zakai, N.A.1    McClure, L.A.2    Prineas, R.3    Howard, G.4    McClellan, W.5    Holmes, C.E.6
  • 3
    • 0021821260 scopus 로고
    • Genetic and environmental influences on the size and number of cells in the blood
    • 4054596
    • Whitfield JB, Martin NG, Genetic and environmental influences on the size and number of cells in the blood. Genetic epidemiology. 1985;2(2):133–44. doi: 10.1002/gepi.1370020204 4054596
    • (1985) Genetic epidemiology , vol.2 , Issue.2 , pp. 133-144
    • Whitfield, J.B.1    Martin, N.G.2
  • 5
    • 50849133580 scopus 로고    scopus 로고
    • Variability and heritability of hemoglobin concentration: an opportunity to improve understanding of anemia in older adults
    • 18757846
    • Patel KV, Variability and heritability of hemoglobin concentration: an opportunity to improve understanding of anemia in older adults. Haematologica. 2008;93(9):1281–3. doi: 10.3324/haematol.13692 18757846
    • (2008) Haematologica , vol.93 , Issue.9 , pp. 1281-1283
    • Patel, K.V.1
  • 6
    • 70350638919 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
    • 19820698, PubMed Central PMCID: PMC3178047
    • Chambers JC, Zhang W, Li Y, Sehmi J, Wass MN, Zabaneh D, et al. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nature genetics. 2009;41(11):1170–2. PubMed Central PMCID: PMC3178047. doi: 10.1038/ng.462 19820698
    • (2009) Nature genetics , vol.41 , Issue.11 , pp. 1170-1172
    • Chambers, J.C.1    Zhang, W.2    Li, Y.3    Sehmi, J.4    Wass, M.N.5    Zabaneh, D.6
  • 7
    • 84878476011 scopus 로고    scopus 로고
    • Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network
    • 23446634, PubMed Central PMCID: PMC3658166
    • Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, et al. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Human molecular genetics. 2013;22(12):2529–38. PubMed Central PMCID: PMC3658166. doi: 10.1093/hmg/ddt087 23446634
    • (2013) Human molecular genetics , vol.22 , Issue.12 , pp. 2529-2538
    • Chen, Z.1    Tang, H.2    Qayyum, R.3    Schick, U.M.4    Nalls, M.A.5    Handsaker, R.6
  • 8
    • 70350646902 scopus 로고    scopus 로고
    • Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
    • 19862010, PubMed Central PMCID: PMC2778265
    • Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nature genetics. 2009;41(11):1191–8. PubMed Central PMCID: PMC2778265. doi: 10.1038/ng.466 19862010
    • (2009) Nature genetics , vol.41 , Issue.11 , pp. 1191-1198
    • Ganesh, S.K.1    Zakai, N.A.2    van Rooij, F.J.3    Soranzo, N.4    Smith, A.V.5    Nalls, M.A.6
  • 9
    • 77649184039 scopus 로고    scopus 로고
    • Genome-wide association study of hematological and biochemical traits in a Japanese population
    • 20139978
    • Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, et al. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nature genetics. 2010;42(3):210–5. doi: 10.1038/ng.531 20139978
    • (2010) Nature genetics , vol.42 , Issue.3 , pp. 210-215
    • Kamatani, Y.1    Matsuda, K.2    Okada, Y.3    Kubo, M.4    Hosono, N.5    Daigo, Y.6
  • 10
    • 77958522275 scopus 로고    scopus 로고
    • A genome-wide association study of red blood cell traits using the electronic medical record
    • PubMed Central PMCID: PMC2946914
    • Kullo IJ, Ding K, Jouni H, Smith CY, Chute CG, A genome-wide association study of red blood cell traits using the electronic medical record. PloS one. 2010;5(9). PubMed Central PMCID: PMC2946914.
    • (2010) PloS one , vol.5 , Issue.9
    • Kullo, I.J.1    Ding, K.2    Jouni, H.3    Smith, C.Y.4    Chute, C.G.5
  • 11
    • 84875271874 scopus 로고    scopus 로고
    • GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children
    • 23263863, PubMed Central PMCID: PMC3657475
    • Li J, Glessner JT, Zhang H, Hou C, Wei Z, Bradfield JP, et al. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Human molecular genetics. 2013;22(7):1457–64. PubMed Central PMCID: PMC3657475. doi: 10.1093/hmg/dds534 23263863
    • (2013) Human molecular genetics , vol.22 , Issue.7 , pp. 1457-1464
    • Li, J.1    Glessner, J.T.2    Zhang, H.3    Hou, C.4    Wei, Z.5    Bradfield, J.P.6
  • 12
    • 70350644759 scopus 로고    scopus 로고
    • A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    • 19820697, PubMed Central PMCID: PMC3108459
    • Soranzo N, Spector TD, Mangino M, Kuhnel B, Rendon A, Teumer A, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nature genetics. 2009;41(11):1182–90. PubMed Central PMCID: PMC3108459. doi: 10.1038/ng.467 19820697
    • (2009) Nature genetics , vol.41 , Issue.11 , pp. 1182-1190
    • Soranzo, N.1    Spector, T.D.2    Mangino, M.3    Kuhnel, B.4    Rendon, A.5    Teumer, A.6
  • 13
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • 23222517, PubMed Central PMCID: PMC3623669
    • van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi J, et al. Seventy-five genetic loci influencing the human red blood cell. Nature. 2012;492(7429):369–75. PubMed Central PMCID: PMC3623669. doi: 10.1038/nature11677 23222517
    • (2012) Nature , vol.492 , Issue.7429 , pp. 369-375
    • van der Harst, P.1    Zhang, W.2    Mateo Leach, I.3    Rendon, A.4    Verweij, N.5    Sehmi, J.6
  • 14
    • 84988713790 scopus 로고    scopus 로고
    • Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
    • 27668658
    • Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C, Walter K, et al. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nature genetics. 2016;48(11):1303–12. doi: 10.1038/ng.3668 27668658
    • (2016) Nature genetics , vol.48 , Issue.11 , pp. 1303-1312
    • Iotchkova, V.1    Huang, J.2    Morris, J.A.3    Jain, D.4    Barbieri, C.5    Walter, K.6
  • 15
    • 1842484334 scopus 로고    scopus 로고
    • Complete blood count reference interval diagrams derived from NHANES III: stratification by age, sex, and race
    • 15070217
    • Cheng CK, Chan J, Cembrowski GS, van Assendelft OW, Complete blood count reference interval diagrams derived from NHANES III: stratification by age, sex, and race. Lab Hematol. 2004;10(1):42–53. 15070217
    • (2004) Lab Hematol , vol.10 , Issue.1 , pp. 42-53
    • Cheng, C.K.1    Chan, J.2    Cembrowski, G.S.3    van Assendelft, O.W.4
  • 16
    • 33746234885 scopus 로고    scopus 로고
    • Prevalence of iron deficiency and iron deficiency anemia among three populations of female military personnel in the US Army
    • 16522934
    • McClung JP, Marchitelli LJ, Friedl KE, Young AJ, Prevalence of iron deficiency and iron deficiency anemia among three populations of female military personnel in the US Army. J Am Coll Nutr. 2006;25(1):64–9. 16522934
    • (2006) J Am Coll Nutr , vol.25 , Issue.1 , pp. 64-69
    • McClung, J.P.1    Marchitelli, L.J.2    Friedl, K.E.3    Young, A.J.4
  • 17
    • 0033806889 scopus 로고    scopus 로고
    • Iron deficiency anemia: higher prevalence in Mexican American than in non-Hispanic white females in the third National Health and Nutrition Examination Survey, 1988–1994
    • 11010938
    • Frith-Terhune AL, Cogswell ME, Khan LK, Will JC, Ramakrishnan U, Iron deficiency anemia: higher prevalence in Mexican American than in non-Hispanic white females in the third National Health and Nutrition Examination Survey, 1988–1994. Am J Clin Nutr. 2000;72(4):963–8. 11010938
    • (2000) Am J Clin Nutr , vol.72 , Issue.4 , pp. 963-968
    • Frith-Terhune, A.L.1    Cogswell, M.E.2    Khan, L.K.3    Will, J.C.4    Ramakrishnan, U.5
  • 19
    • 85016923777 scopus 로고    scopus 로고
    • Racial/Ethnic-Specific Reference Intervals for Common Laboratory Tests: A Comparison among Asians, Blacks, Hispanics, and White
    • 26468426, PubMed Central PMCID: PMCPMC4578165
    • Lim E, Miyamura J, Chen JJ, Racial/Ethnic-Specific Reference Intervals for Common Laboratory Tests: A Comparison among Asians, Blacks, Hispanics, and White. Hawaii J Med Public Health. 2015;74(9):302–10. PubMed Central PMCID: PMCPMC4578165. 26468426
    • (2015) Hawaii J Med Public Health , vol.74 , Issue.9 , pp. 302-310
    • Lim, E.1    Miyamura, J.2    Chen, J.J.3
  • 20
    • 33645308826 scopus 로고    scopus 로고
    • Prevalence of -alpha(3.7) and alpha alpha alpha(anti3.7) alleles in sickle cell trait and beta-thalassemia patients in Mexico
    • 16466950
    • Nava MP, Ibarra B, Magana MT, de la Luz Chavez M, Perea FJ, Prevalence of -alpha(3.7) and alpha alpha alpha(anti3.7) alleles in sickle cell trait and beta-thalassemia patients in Mexico. Blood Cells Mol Dis. 2006;36(2):255–8. doi: 10.1016/j.bcmd.2005.12.003 16466950
    • (2006) Blood Cells Mol Dis , vol.36 , Issue.2 , pp. 255-258
    • Nava, M.P.1    Ibarra, B.2    Magana, M.T.3    de la Luz, C.M.4    Perea, F.J.5
  • 22
    • 0041520652 scopus 로고    scopus 로고
    • Mutations and aberrant DNA methylation of the PROX1 gene in hematologic malignancies
    • 12874782
    • Nagai H, Li Y, Hatano S, Toshihito O, Yuge M, Ito E, et al. Mutations and aberrant DNA methylation of the PROX1 gene in hematologic malignancies. Genes Chromosomes Cancer. 2003;38(1):13–21. doi: 10.1002/gcc.10248 12874782
    • (2003) Genes Chromosomes Cancer , vol.38 , Issue.1 , pp. 13-21
    • Nagai, H.1    Li, Y.2    Hatano, S.3    Toshihito, O.4    Yuge, M.5    Ito, E.6
  • 23
    • 79958858636 scopus 로고    scopus 로고
    • Roles for MSI2 and PROX1 in hematopoietic stem cell activity
    • 21577104
    • Hope KJ, Sauvageau G, Roles for MSI2 and PROX1 in hematopoietic stem cell activity. Curr Opin Hematol. 2011;18(4):203–7. doi: 10.1097/MOH.0b013e328347888a 21577104
    • (2011) Curr Opin Hematol , vol.18 , Issue.4 , pp. 203-207
    • Hope, K.J.1    Sauvageau, G.2
  • 24
    • 84867988893 scopus 로고    scopus 로고
    • Transcription factor PROX1: its role in development and cancer
    • 22733308
    • Elsir T, Smits A, Lindstrom MS, Nister M, Transcription factor PROX1: its role in development and cancer. Cancer Metastasis Rev. 2012;31(3–4):793–805. doi: 10.1007/s10555-012-9390-8 22733308
    • (2012) Cancer Metastasis Rev , vol.31 , Issue.3-4 , pp. 793-805
    • Elsir, T.1    Smits, A.2    Lindstrom, M.S.3    Nister, M.4
  • 25
    • 75749086085 scopus 로고    scopus 로고
    • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
    • 20081858, PubMed Central PMCID: PMCPMC3018764
    • Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature genetics. 2010;42(2):105–16. PubMed Central PMCID: PMCPMC3018764. doi: 10.1038/ng.520 20081858
    • (2010) Nature genetics , vol.42 , Issue.2 , pp. 105-116
    • Dupuis, J.1    Langenberg, C.2    Prokopenko, I.3    Saxena, R.4    Soranzo, N.5    Jackson, A.U.6
  • 26
    • 84876575776 scopus 로고    scopus 로고
    • Genetic and molecular insights into the role of PROX1 in glucose metabolism
    • 23274905, PubMed Central PMCID: PMCPMC3636631
    • Lecompte S, Pasquetti G, Hermant X, Grenier-Boley B, Gonzalez-Gross M, De Henauw S, et al. Genetic and molecular insights into the role of PROX1 in glucose metabolism. Diabetes. 2013;62(5):1738–45. PubMed Central PMCID: PMCPMC3636631. doi: 10.2337/db12-0864 23274905
    • (2013) Diabetes , vol.62 , Issue.5 , pp. 1738-1745
    • Lecompte, S.1    Pasquetti, G.2    Hermant, X.3    Grenier-Boley, B.4    Gonzalez-Gross, M.5    De Henauw, S.6
  • 27
    • 84930090376 scopus 로고    scopus 로고
    • The impact of low-frequency and rare variants on lipid levels
    • 25961943, PubMed Central PMCID: PMCPMC4757735
    • Surakka I, Horikoshi M, Magi R, Sarin AP, Mahajan A, Lagou V, et al. The impact of low-frequency and rare variants on lipid levels. Nature genetics. 2015;47(6):589–97. PubMed Central PMCID: PMCPMC4757735. doi: 10.1038/ng.3300 25961943
    • (2015) Nature genetics , vol.47 , Issue.6 , pp. 589-597
    • Surakka, I.1    Horikoshi, M.2    Magi, R.3    Sarin, A.P.4    Mahajan, A.5    Lagou, V.6
  • 28
    • 84901705651 scopus 로고    scopus 로고
    • Global transcriptome analyses of human and murine terminal erythroid differentiation
    • 24637361, PubMed Central PMCID: PMCPMC4041167
    • An X, Schulz VP, Li J, Wu K, Liu J, Xue F, et al. Global transcriptome analyses of human and murine terminal erythroid differentiation. Blood. 2014;123(22):3466–77. PubMed Central PMCID: PMCPMC4041167. doi: 10.1182/blood-2014-01-548305 24637361
    • (2014) Blood , vol.123 , Issue.22 , pp. 3466-3477
    • An, X.1    Schulz, V.P.2    Li, J.3    Wu, K.4    Liu, J.5    Xue, F.6
  • 29
    • 78249279351 scopus 로고    scopus 로고
    • Protein quality control during erythropoiesis and hemoglobin synthesis
    • 21075281, PubMed Central PMCID: PMCPMC4136498
    • Khandros E, Weiss MJ, Protein quality control during erythropoiesis and hemoglobin synthesis. Hematol Oncol Clin North Am. 2010;24(6):1071–88. PubMed Central PMCID: PMCPMC4136498. doi: 10.1016/j.hoc.2010.08.013 21075281
    • (2010) Hematol Oncol Clin North Am , vol.24 , Issue.6 , pp. 1071-1088
    • Khandros, E.1    Weiss, M.J.2
  • 30
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • 24013639, PubMed Central PMCID: PMCPMC3991562
    • Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature genetics. 2013;45(10):1238–43. PubMed Central PMCID: PMCPMC3991562. doi: 10.1038/ng.2756 24013639
    • (2013) Nature genetics , vol.45 , Issue.10 , pp. 1238-1243
    • Westra, H.J.1    Peters, M.J.2    Esko, T.3    Yaghootkar, H.4    Schurmann, C.5    Kettunen, J.6
  • 31
    • 84929001104 scopus 로고    scopus 로고
    • Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
    • 25954001, PubMed Central PMCID: PMCPMC4547484
    • Consortium GTHuman genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015;348(6235):648–60. PubMed Central PMCID: PMCPMC4547484. doi: 10.1126/science.1262110 25954001
    • (2015) Science , vol.348 , Issue.6235 , pp. 648-660
  • 32
    • 62049086288 scopus 로고    scopus 로고
    • PRMT5-mediated methylation of histone H4R3 recruits DNMT3A, coupling histone and DNA methylation in gene silencing
    • 19234465
    • Zhao Q, Rank G, Tan YT, Li H, Moritz RL, Simpson RJ, et al. PRMT5-mediated methylation of histone H4R3 recruits DNMT3A, coupling histone and DNA methylation in gene silencing. Nat Struct Mol Biol. 2009;16(3):304–11. doi: 10.1038/nsmb.1568 19234465
    • (2009) Nat Struct Mol Biol , vol.16 , Issue.3 , pp. 304-311
    • Zhao, Q.1    Rank, G.2    Tan, Y.T.3    Li, H.4    Moritz, R.L.5    Simpson, R.J.6
  • 33
    • 77956601372 scopus 로고    scopus 로고
    • Identification of a PRMT5-dependent repressor complex linked to silencing of human fetal globin gene expression
    • 20495075, PubMed Central PMCID: PMCPMC2938845
    • Rank G, Cerruti L, Simpson RJ, Moritz RL, Jane SM, Zhao Q, Identification of a PRMT5-dependent repressor complex linked to silencing of human fetal globin gene expression. Blood. 2010;116(9):1585–92. PubMed Central PMCID: PMCPMC2938845. doi: 10.1182/blood-2009-10-251116 20495075
    • (2010) Blood , vol.116 , Issue.9 , pp. 1585-1592
    • Rank, G.1    Cerruti, L.2    Simpson, R.J.3    Moritz, R.L.4    Jane, S.M.5    Zhao, Q.6
  • 34
    • 79955550445 scopus 로고    scopus 로고
    • A user's guide to the encyclopedia of DNA elements (ENCODE)
    • 21526222, PubMed Central PMCID: PMCPMC3079585
    • Consortium EPA user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol. 2011;9(4):e1001046. PubMed Central PMCID: PMCPMC3079585. doi: 10.1371/journal.pbio.1001046 21526222
    • (2011) PLoS Biol , vol.9 , Issue.4 , pp. 1001046
  • 36
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • 22955616, PubMed Central PMCID: PMCPMC3439153
    • Consortium EPAn integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489(7414):57–74. PubMed Central PMCID: PMCPMC3439153. doi: 10.1038/nature11247 22955616
    • (2012) Nature , vol.489 , Issue.7414 , pp. 57-74
  • 37
    • 76749137611 scopus 로고    scopus 로고
    • NKCC1 and hypertension: a novel therapeutic target involved in the regulation of vascular tone and renal function
    • 20061948
    • Orlov SN, Tremblay J, Hamet P, NKCC1 and hypertension: a novel therapeutic target involved in the regulation of vascular tone and renal function. Curr Opin Nephrol Hypertens. 2010;19(2):163–8. doi: 10.1097/MNH.0b013e3283360a46 20061948
    • (2010) Curr Opin Nephrol Hypertens , vol.19 , Issue.2 , pp. 163-168
    • Orlov, S.N.1    Tremblay, J.2    Hamet, P.3
  • 38
    • 84995752422 scopus 로고    scopus 로고
    • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
    • 27863252,. e19. PubMed Central PMCID: PMCPMC5300907
    • Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, et al. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell. 2016;167(5):1415–29 e19. PubMed Central PMCID: PMCPMC5300907. doi: 10.1016/j.cell.2016.10.042 27863252
    • (2016) Cell , vol.167 , Issue.5 , pp. 1415-1429
    • Astle, W.J.1    Elding, H.2    Jiang, T.3    Allen, D.4    Ruklisa, D.5    Mann, A.L.6
  • 39
    • 84989865856 scopus 로고    scopus 로고
    • Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
    • 27346685, PubMed Central PMCID: PMCPMC5005438
    • Chami N, Chen MH, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, et al. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016;99(1):8–21. PubMed Central PMCID: PMCPMC5005438. doi: 10.1016/j.ajhg.2016.05.007 27346685
    • (2016) Am J Hum Genet , vol.99 , Issue.1 , pp. 8-21
    • Chami, N.1    Chen, M.H.2    Slater, A.J.3    Eicher, J.D.4    Evangelou, E.5    Tajuddin, S.M.6
  • 40
    • 76749116178 scopus 로고    scopus 로고
    • Decreased NKCC1 activity in erythrocytes from African Americans with hypertension and dyslipidemia
    • 20044742, PubMed Central PMCID: PMCPMC3727424
    • Orlov SN, Gossard F, Pausova Z, Akimova OA, Tremblay J, Grim CE, et al. Decreased NKCC1 activity in erythrocytes from African Americans with hypertension and dyslipidemia. Am J Hypertens. 2010;23(3):321–6. PubMed Central PMCID: PMCPMC3727424. doi: 10.1038/ajh.2009.249 20044742
    • (2010) Am J Hypertens , vol.23 , Issue.3 , pp. 321-326
    • Orlov, S.N.1    Gossard, F.2    Pausova, Z.3    Akimova, O.A.4    Tremblay, J.5    Grim, C.E.6
  • 41
    • 77649127616 scopus 로고    scopus 로고
    • Loss of balancing selection in the betaS globin locus
    • 20128890,..;:. PubMed Central PMCID: PMCPMC2829010
    • Salih NA, Hussain AA, Almugtaba IA, Elzein AM, Elhassan IM, Khalil EA, et al. Loss of balancing selection in the betaS globin locus. BMC Med Genet. 2010;11:21. PubMed Central PMCID: PMCPMC2829010. doi: 10.1186/1471-2350-11-21 20128890
    • (2010) BMC Med Genet , vol.11 , pp. 21
    • Salih, N.A.1    Hussain, A.A.2    Almugtaba, I.A.3    Elzein, A.M.4    Elhassan, I.M.5    Khalil, E.A.6
  • 42
    • 84894265837 scopus 로고    scopus 로고
    • Association of cytokine and Toll-like receptor gene polymorphisms with severe malaria in three regions of Cameroon
    • 24312262, PubMed Central PMCID: PMCPMC3842328
    • Apinjoh TO, Anchang-Kimbi JK, Njua-Yafi C, Mugri RN, Ngwai AN, Rockett KA, et al. Association of cytokine and Toll-like receptor gene polymorphisms with severe malaria in three regions of Cameroon. PloS one. 2013;8(11):e81071. PubMed Central PMCID: PMCPMC3842328. doi: 10.1371/journal.pone.0081071 24312262
    • (2013) PloS one , vol.8 , Issue.11 , pp. 81071
    • Apinjoh, T.O.1    Anchang-Kimbi, J.K.2    Njua-Yafi, C.3    Mugri, R.N.4    Ngwai, A.N.5    Rockett, K.A.6
  • 43
    • 84899489076 scopus 로고    scopus 로고
    • Malaria parasites and red cell variants: when a house is not a home
    • 24675047, PubMed Central PMCID: PMCPMC4083250
    • Taylor SM, Fairhurst RM, Malaria parasites and red cell variants: when a house is not a home. Curr Opin Hematol. 2014;21(3):193–200. PubMed Central PMCID: PMCPMC4083250. doi: 10.1097/MOH.0000000000000039 24675047
    • (2014) Curr Opin Hematol , vol.21 , Issue.3 , pp. 193-200
    • Taylor, S.M.1    Fairhurst, R.M.2
  • 44
    • 0030498971 scopus 로고    scopus 로고
    • Mean cell haemoglobin concentration in subjects with haemoglobin C, D, E and S traits
    • 9054696
    • Hinchliffe RF, Norcliffe D, Farrar LM, Lilleyman JS, Mean cell haemoglobin concentration in subjects with haemoglobin C, D, E and S traits. Clin Lab Haematol. 1996;18(4):245–8. 9054696
    • (1996) Clin Lab Haematol , vol.18 , Issue.4 , pp. 245-248
    • Hinchliffe, R.F.1    Norcliffe, D.2    Farrar, L.M.3    Lilleyman, J.S.4
  • 45
    • 0021949660 scopus 로고
    • Red blood cell counts and indices in sickle cell trait in a black American population
    • 3997542
    • Castro O, Scott RB, Red blood cell counts and indices in sickle cell trait in a black American population. Hemoglobin. 1985;9(1):65–7. 3997542
    • (1985) Hemoglobin , vol.9 , Issue.1 , pp. 65-67
    • Castro, O.1    Scott, R.B.2
  • 47
    • 34249746554 scopus 로고    scopus 로고
    • Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    • 17061732
    • Acton RT, Barton JC, Snively BM, McLaren CE, Adams PC, Harris EL, et al. Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Ethn Dis. 2006;16(4):815–21. 17061732
    • (2006) Ethn Dis , vol.16 , Issue.4 , pp. 815-821
    • Acton, R.T.1    Barton, J.C.2    Snively, B.M.3    McLaren, C.E.4    Adams, P.C.5    Harris, E.L.6
  • 48
    • 0029964907 scopus 로고    scopus 로고
    • The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies
    • 8943886
    • Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A, et al. The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies. Br J Haematol. 1996;95(3):467–71. 8943886
    • (1996) Br J Haematol , vol.95 , Issue.3 , pp. 467-471
    • Traeger-Synodinos, J.1    Kanavakis, E.2    Vrettou, C.3    Maragoudaki, E.4    Michael, T.5    Metaxotou-Mavromati, A.6
  • 49
    • 23744509914 scopus 로고    scopus 로고
    • A newly discovered human alpha-globin gene
    • 15855277,; PubMed Central PMCID: PMCPMC1895206
    • Goh SH, Lee YT, Bhanu NV, Cam MC, Desper R, Martin BM, et al. A newly discovered human alpha-globin gene. Blood. 2005;106(4):1466–72.; PubMed Central PMCID: PMCPMC1895206. doi: 10.1182/blood-2005-03-0948 15855277
    • (2005) Blood , vol.106 , Issue.4 , pp. 1466-1472
    • Goh, S.H.1    Lee, Y.T.2    Bhanu, N.V.3    Cam, M.C.4    Desper, R.5    Martin, B.M.6
  • 50
    • 36148932556 scopus 로고    scopus 로고
    • The ATP-binding cassette transporter subfamily A member 1 (ABC-A1) and type 2 diabetes: an association beyond HDL cholesterol
    • 18220685
    • Salinas CA, Cruz-Bautista I, Mehta R, Villarreal-Molina MT, Perez FJ, Tusie-Luna MT, et al. The ATP-binding cassette transporter subfamily A member 1 (ABC-A1) and type 2 diabetes: an association beyond HDL cholesterol. Curr Diabetes Rev. 2007;3(4):264–7. 18220685
    • (2007) Curr Diabetes Rev , vol.3 , Issue.4 , pp. 264-267
    • Salinas, C.A.1    Cruz-Bautista, I.2    Mehta, R.3    Villarreal-Molina, M.T.4    Perez, F.J.5    Tusie-Luna, M.T.6
  • 51
    • 84957838060 scopus 로고    scopus 로고
    • Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans
    • 26805783, PubMed Central PMCID: PMCPMC4746331
    • Schick UM, Jain D, Hodonsky CJ, Morrison JV, Davis JP, Brown L, et al. Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. Am J Hum Genet. 2016;98(2):229–42. PubMed Central PMCID: PMCPMC4746331. doi: 10.1016/j.ajhg.2015.12.003 26805783
    • (2016) Am J Hum Genet , vol.98 , Issue.2 , pp. 229-242
    • Schick, U.M.1    Jain, D.2    Hodonsky, C.J.3    Morrison, J.V.4    Davis, J.P.5    Brown, L.6
  • 52
    • 77954250819 scopus 로고    scopus 로고
    • Sample design and cohort selection in the Hispanic Community Health Study/Study of Latinos
    • 20609344, PubMed Central PMCID: PMCPMC2921622
    • Lavange LM, Kalsbeek WD, Sorlie PD, Aviles-Santa LM, Kaplan RC, Barnhart J, et al. Sample design and cohort selection in the Hispanic Community Health Study/Study of Latinos. Ann Epidemiol. 2010;20(8):642–9. PubMed Central PMCID: PMCPMC2921622. doi: 10.1016/j.annepidem.2010.05.006 20609344
    • (2010) Ann Epidemiol , vol.20 , Issue.8 , pp. 642-649
    • Lavange, L.M.1    Kalsbeek, W.D.2    Sorlie, P.D.3    Aviles-Santa, L.M.4    Kaplan, R.C.5    Barnhart, J.6
  • 53
    • 77954292248 scopus 로고    scopus 로고
    • Design and implementation of the Hispanic Community Health Study/Study of Latinos
    • 20609343, PubMed Central PMCID: PMCPMC2904957
    • Sorlie PD, Aviles-Santa LM, Wassertheil-Smoller S, Kaplan RC, Daviglus ML, Giachello AL, et al. Design and implementation of the Hispanic Community Health Study/Study of Latinos. Ann Epidemiol. 2010;20(8):629–41. PubMed Central PMCID: PMCPMC2904957. doi: 10.1016/j.annepidem.2010.03.015 20609343
    • (2010) Ann Epidemiol , vol.20 , Issue.8 , pp. 629-641
    • Sorlie, P.D.1    Aviles-Santa, L.M.2    Wassertheil-Smoller, S.3    Kaplan, R.C.4    Daviglus, M.L.5    Giachello, A.L.6
  • 54
    • 84954289580 scopus 로고    scopus 로고
    • Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos
    • 26748518, PubMed Central PMCID: PMCPMC4716704
    • Conomos MP, Laurie CA, Stilp AM, Gogarten SM, McHugh CP, Nelson SC, et al. Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos. Am J Hum Genet. 2016;98(1):165–84. PubMed Central PMCID: PMCPMC4716704. doi: 10.1016/j.ajhg.2015.12.001 26748518
    • (2016) Am J Hum Genet , vol.98 , Issue.1 , pp. 165-184
    • Conomos, M.P.1    Laurie, C.A.2    Stilp, A.M.3    Gogarten, S.M.4    McHugh, C.P.5    Nelson, S.C.6
  • 55
    • 84954289735 scopus 로고    scopus 로고
    • Model-free Estimation of Recent Genetic Relatedness
    • 26748516, PubMed Central PMCID: PMCPMC4716688
    • Conomos MP, Reiner AP, Weir BS, Thornton TA, Model-free Estimation of Recent Genetic Relatedness. Am J Hum Genet. 2016;98(1):127–48. PubMed Central PMCID: PMCPMC4716688. doi: 10.1016/j.ajhg.2015.11.022 26748516
    • (2016) Am J Hum Genet , vol.98 , Issue.1 , pp. 127-148
    • Conomos, M.P.1    Reiner, A.P.2    Weir, B.S.3    Thornton, T.A.4
  • 56
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 23128226, PubMed Central PMCID: PMCPMC3498066
    • Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56–65. PubMed Central PMCID: PMCPMC3498066. doi: 10.1038/nature11632 23128226
    • (2012) Nature , vol.491 , Issue.7422 , pp. 56-65
    • Genomes Project, C.1    Abecasis, G.R.2    Auton, A.3    Brooks, L.D.4    DePristo, M.A.5    Durbin, R.M.6
  • 57
    • 78649508578 scopus 로고    scopus 로고
    • MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
    • 21058334, PubMed Central PMCID: PMCPMC3175618
    • Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR, MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genetic epidemiology. 2010;34(8):816–34. PubMed Central PMCID: PMCPMC3175618. doi: 10.1002/gepi.20533 21058334
    • (2010) Genetic epidemiology , vol.34 , Issue.8 , pp. 816-834
    • Li, Y.1    Willer, C.J.2    Ding, J.3    Scheet, P.4    Abecasis, G.R.5
  • 58
    • 33750913512 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians
    • 17077204
    • Au WY, Lam V, Pang A, Lee WM, Chan JL, Song YQ, et al. Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians. J Gerontol A Biol Sci Med Sci. 2006;61(10):1086–9. 17077204
    • (2006) J Gerontol A Biol Sci Med Sci , vol.61 , Issue.10 , pp. 1086-1089
    • Au, W.Y.1    Lam, V.2    Pang, A.3    Lee, W.M.4    Chan, J.L.5    Song, Y.Q.6
  • 59
    • 84973096960 scopus 로고    scopus 로고
    • Local Ancestry Inference in a Large US-Based Hispanic/Latino Study: Hispanic Community Health Study/Study of Latinos (HCHS/SOL)
    • PubMed Central PMCID: PMCPMC4889649
    • Browning SR, Grinde K, Plantinga A, Gogarten SM, Stilp AM, Kaplan RC, et al. Local Ancestry Inference in a Large US-Based Hispanic/Latino Study: Hispanic Community Health Study/Study of Latinos (HCHS/SOL). G3 (Bethesda). 2016;6(6):1525–34. PubMed Central PMCID: PMCPMC4889649.
    • (2016) G3 (Bethesda) , vol.6 , Issue.6 , pp. 1525-1534
    • Browning, S.R.1    Grinde, K.2    Plantinga, A.3    Gogarten, S.M.4    Stilp, A.M.5    Kaplan, R.C.6
  • 60
    • 84945346364 scopus 로고    scopus 로고
    • Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
    • 26366553, PubMed Central PMCID: PMCPMC4627580
    • Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, et al. Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. Nature genetics. 2015;47(11):1264–71. PubMed Central PMCID: PMCPMC4627580. doi: 10.1038/ng.3307 26366553
    • (2015) Nature genetics , vol.47 , Issue.11 , pp. 1264-1271
    • Danjou, F.1    Zoledziewska, M.2    Sidore, C.3    Steri, M.4    Busonero, F.5    Maschio, A.6
  • 62
    • 84867736794 scopus 로고    scopus 로고
    • Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis
    • 23041383, PubMed Central PMCID: PMCPMC3477283
    • Xu J, Shao Z, Glass K, Bauer DE, Pinello L, Van Handel B, et al. Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis. Dev Cell. 2012;23(4):796–811. PubMed Central PMCID: PMCPMC3477283. doi: 10.1016/j.devcel.2012.09.003 23041383
    • (2012) Dev Cell , vol.23 , Issue.4 , pp. 796-811
    • Xu, J.1    Shao, Z.2    Glass, K.3    Bauer, D.E.4    Pinello, L.5    Van Handel, B.6
  • 63
    • 0036079158 scopus 로고    scopus 로고
    • The human genome browser at UCSC
    • 12045153, PubMed Central PMCID: PMCPMC186604
    • Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res. 2002;12(6):996–1006. PubMed Central PMCID: PMCPMC186604. doi: 10.1101/gr.229102 12045153
    • (2002) Genome Res , vol.12 , Issue.6 , pp. 996-1006
    • Kent, W.J.1    Sugnet, C.W.2    Furey, T.S.3    Roskin, K.M.4    Pringle, T.H.5    Zahler, A.M.6
  • 64
    • 84891814834 scopus 로고    scopus 로고
    • Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser
    • 24227676, PubMed Central PMCID: PMCPMC3967101
    • Raney BJ, Dreszer TR, Barber GP, Clawson H, Fujita PA, Wang T, et al. Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser. Bioinformatics. 2014;30(7):1003–5. PubMed Central PMCID: PMCPMC3967101. doi: 10.1093/bioinformatics/btt637 24227676
    • (2014) Bioinformatics , vol.30 , Issue.7 , pp. 1003-1005
    • Raney, B.J.1    Dreszer, T.R.2    Barber, G.P.3    Clawson, H.4    Fujita, P.A.5    Wang, T.6
  • 65
    • 84946060265 scopus 로고    scopus 로고
    • CODEX: a next-generation sequencing experiment database for the haematopoietic and embryonic stem cell communities
    • 25270877,..; (Database issue): –. PubMed Central PMCID: PMCPMC4384009
    • Sanchez-Castillo M, Ruau D, Wilkinson AC, Ng FS, Hannah R, Diamanti E, et al. CODEX: a next-generation sequencing experiment database for the haematopoietic and embryonic stem cell communities. Nucleic Acids Res. 2015;43(Database issue):D1117–23. PubMed Central PMCID: PMCPMC4384009. doi: 10.1093/nar/gku895 25270877
    • (2015) Nucleic Acids Res , vol.43 , pp. 1117-1123
    • Sanchez-Castillo, M.1    Ruau, D.2    Wilkinson, A.C.3    Ng, F.S.4    Hannah, R.5    Diamanti, E.6
  • 66
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • 22064851,.; (Database issue): –. PubMed Central PMCID: PMCPMC3245002
    • Ward LD, Kellis M, HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 2012;40(Database issue):D930–4. PubMed Central PMCID: PMCPMC3245002. doi: 10.1093/nar/gkr917 22064851
    • (2012) Nucleic Acids Res , vol.40 , pp. 930-934
    • Ward, L.D.1    Kellis, M.2
  • 67
    • 84865712382 scopus 로고    scopus 로고
    • Annotation of functional variation in personal genomes using RegulomeDB
    • 22955989, PubMed Central PMCID: PMCPMC3431494
    • Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012;22(9):1790–7. PubMed Central PMCID: PMCPMC3431494. doi: 10.1101/gr.137323.112 22955989
    • (2012) Genome Res , vol.22 , Issue.9 , pp. 1790-1797
    • Boyle, A.P.1    Hong, E.L.2    Hariharan, M.3    Cheng, Y.4    Schaub, M.A.5    Kasowski, M.6
  • 68
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • 24487276, PubMed Central PMCID: PMCPMC3992975
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J, A general framework for estimating the relative pathogenicity of human genetic variants. Nature genetics. 2014;46(3):310–5. PubMed Central PMCID: PMCPMC3992975. doi: 10.1038/ng.2892 24487276
    • (2014) Nature genetics , vol.46 , Issue.3 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 69
    • 84895510920 scopus 로고    scopus 로고
    • Functional annotation of noncoding sequence variants
    • 24487584
    • Ritchie GR, Dunham I, Zeggini E, Flicek P, Functional annotation of noncoding sequence variants. Nat Methods. 2014;11(3):294–6. doi: 10.1038/nmeth.2832 24487584
    • (2014) Nat Methods , vol.11 , Issue.3 , pp. 294-296
    • Ritchie, G.R.1    Dunham, I.2    Zeggini, E.3    Flicek, P.4
  • 70
    • 84938276507 scopus 로고    scopus 로고
    • A method to predict the impact of regulatory variants from DNA sequence
    • 26075791, PubMed Central PMCID: PMCPMC4520745
    • Lee D, Gorkin DU, Baker M, Strober BJ, Asoni AL, McCallion AS, et al. A method to predict the impact of regulatory variants from DNA sequence. Nature genetics. 2015;47(8):955–61. PubMed Central PMCID: PMCPMC4520745. doi: 10.1038/ng.3331 26075791
    • (2015) Nature genetics , vol.47 , Issue.8 , pp. 955-961
    • Lee, D.1    Gorkin, D.U.2    Baker, M.3    Strober, B.J.4    Asoni, A.L.5    McCallion, A.S.6
  • 71
    • 84905388288 scopus 로고    scopus 로고
    • Characterization of genomic deletion efficiency mediated by clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells
    • 24907273, PubMed Central PMCID: PMCPMC4118095
    • Canver MC, Bauer DE, Dass A, Yien YY, Chung J, Masuda T, et al. Characterization of genomic deletion efficiency mediated by clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells. J Biol Chem. 2014;289(31):21312–24. PubMed Central PMCID: PMCPMC4118095. doi: 10.1074/jbc.M114.564625 24907273
    • (2014) J Biol Chem , vol.289 , Issue.31 , pp. 21312-21324
    • Canver, M.C.1    Bauer, D.E.2    Dass, A.3    Yien, Y.Y.4    Chung, J.5    Masuda, T.6


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