Association between the ABO locus and hematological traits in Korean

BMC Genetics

Volumn 13, Issue , 2012, Pages

  Hong, Kyung Won ^a   Moon, Sanghoon ^a   Kim, Young J ^a   Kim, Yun K ^a   Kim, Dong Joon ^a   Kim, Cheong sik ^a   Kim, Sung S ^a   Kim, Bong Jo ^a  

^a Korea National Institute of Health   (South Korea)

Author keywords

ABO; CNV; GWAS; Hematological trait; Korean

Indexed keywords

HEMOGLOBIN;

ADULT; ALLELE; ARTICLE; BLOOD GROUP ABO SYSTEM; COPY NUMBER VARIATION; ERYTHROCYTE COUNT; FEMALE; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRAIT; HAPLOTYPE; HEMATOCRIT; HEMATOLOGY; HUMAN; KOREA; LEUKOCYTE COUNT; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT;

ABO BLOOD-GROUP SYSTEM; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD PHYSIOLOGICAL PHENOMENA; DNA COPY NUMBER VARIATIONS; HUMANS; KOREA; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84865836148     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/1471-2156-13-78     Document Type: Article

References (24)

1. Storry JR, Olsson ML. The ABO group system revisited: review and update. Immunohematology 2009, 25:48-59.
2. Yamamoto F, McNeill PD, Hakomori S. Genomic organization of human histo-blood group ABO genes. Glycobiology 1995, 5:51-58. 10.1093/glycob/5.1.51, 7772867.
3. Schunkert H, König IR, Kathiresan S, Reilly MP, Assimes TL, Holm H, Preuss M, Stewart AF, Barbalic M, Gieger C, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011, 43:333-338. 10.1038/ng.784, 3119261, 21378990.
4. Qi L, Cornelis MC, Kraft P, Jensen M, van Dam RM, Sun Q, Girman CJ, Laurie CC, Mirel DB, Hunter DJ, et al. Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes. Hum Mol Genet 2010, 19:1856-1862. 10.1093/hmg/ddq057, 2850622, 20147318.
5. Paterson AD, Lopes-Virella MF, Waggott D, Boright AP, Hosseini SM, Carter RE, Shen E, Mirea L, Bharaj B, Sun L, et al. Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. Arterioscler Thromb Vasc Biol 2009, 29:1958-1967. 10.1161/ATVBAHA.109.192971, 3147250, 19729612.
6. Barbalic M, Dupuis J, Dehghan A, Bis JC, Hoogeveen RC, Schnabel RB, Nambi V, Bretler M, Smith NL, Peters A, et al. Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. Hum Mol Genet 2010, 19:1863-1872. 10.1093/hmg/ddq061, 2850624, 20167578.
7. Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet 2009, 41:1191-1198. 10.1038/ng.466, 2778265, 19862010.
8. Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura Y, Kamatani N. Genome-wide association study of hematological and biochemical traits in a Japanese Population. Nat Genet 2010, 42:210-215. 10.1038/ng.531, 20139978.
9. Lo KS, Wilson JG, Lange LA, Folsom AR, Galarneau G, Ganesh SK, Grant SF, Keating BJ, McCarroll SA, Mohler ER, et al. Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Hum Genet 2011, 129:307-317. 10.1007/s00439-010-0925-1, 3442357, 21153663.
10. Yip SP. Sequence variation at the human ABO locus. Ann Hum Genet 2002, 66:1-27. 10.1017/S0003480001008995, 12014997.
11. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban HJ, Yoon D, Lee MH, Kim DJ, Park M, et al. A large-scale genome-wide association study of Asian population uncover genetic factors influencing eight quantitative traits. Nat Genet 2009, 41:527-534. 10.1038/ng.357, 19396169.
12. Kim YJ, Go MJ, Hu C, Hong CB, Kim YK, Lee JY, Hwang JY, Oh JH, Kim DJ, Kim S, et al. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Nat Genet 2011, 43:990-995. 10.1038/ng.939, 21909109.
13. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009, 84:148-161. 10.1016/j.ajhg.2008.12.014, 2668011, 19166990.
14. Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008, 451:998-1003. 10.1038/nature06742, 18288195.
15. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et al. Origins and functional impact of copy number variation in the human genome. Nature 2010, 464:704-712. 10.1038/nature08516, 3330748, 19812545.
16. McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008, 40:1166-1174. 10.1038/ng.238, 18776908.
17. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009, 19:1682-1690. 10.1101/gr.083501.108, 2752118, 19592680.
18. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. PennCNV: an integrated hidden Markov model designed for high resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007, 17:1665-1674. 10.1101/gr.6861907, 2045149, 17921354.
19. Hong KW, Lim JE, Kim YJ, Cho NH, Shin C, Oh B. KARE Genomewide Association Study of Blood Pressure Using Imputed SNPs. Genomics & Informatics 2010, 8:103-107. 10.5808/GI.2010.8.3.103, 23043114.
20. Wright S. The genetical structure of populations. Nature 1950, 15:323-354.
21. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 28:1323-1328.
22. Pique-Regi R, Monso-Varona J, Ortega A, Seeger RC, Triche TJ, Asgharzadeh S. Sparse representation and Bayesian detection of genome copy number alterations from microarray data. Bioinformatics 2008, 24:309-318. 10.1093/bioinformatics/btm601, 2704547, 18203770.
23. Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, , et al. Wellcome Trust Case Control Consortium Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010, 464:713-720. 10.1038/nature08979, 2892339, 20360734, Wellcome Trust Case Control Consortium.
24. Purcell S, Neale B, Todd-Brown K, Tomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al. PLINK: a tool set for whole-genome association and population based linkage analyses. Am J Hum Genet 2007, 81:559-575. 10.1086/519795, 1950838, 17701901.