Genomics & Informatics

  • 제8권3호
  • /
  • Pages.159-163
  • /
  • 2010
  • /
  • 1598-866X(pISSN)
  • /
  • 2234-0742(eISSN)
한국유전체학회 (Korea Genome Organization)
권호 표지
DOI QR코드

DOI QR Code

Comparison of Erythrocyte Traits Among European, Japanese and Korean

  • Kwon, Ji-Sun (Department of Bioinformatics and Life Science, Soongsil University) ;
  • Kim, Sang-Soo (Department of Bioinformatics and Life Science, Soongsil University)
  • 심사 : 2010.08.29
  • 발행 : 2010.09.30
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Erythrocyte traits are heritable and indirect indicators of blood diseases caused by erythrocyte, but their genetic factors are largely unknown. So we performed genome-wide association study in 8,842 Korean individuals to identify genetic factors influencing erythrocyte traits. We identified 40 associations for three erythrocyte traits at genome-wide significance levels (p < $1{\times}10^{-6}$). We compared these associated loci with those reported in genome-wide association studies of European and Japanese. Our findings include previously identified loci(HBS1L-MYB, TMPRSS6, USP49 and CCND3) in other studies and novel associations (MRDS1/OFCC1, CSDE1, NRAS and 8 other loci). For example, SNP rs4895440 of HBS1L-MYB intergenic region on chromosome 6q23.3 is one of the most associations influencing erythrocyte traits (p=$8.33{\times}10^{-27}$).

키워드

참고문헌

  1. Cho, Y.S., Go, M.J., Kim, Y.J., Heo, J.Y., Oh, J.H., Ban, H.J., Yoon, D., Lee, M.H., Kim, D.J., Park, M., Cha, S.H., Kim, J.W., Han, B.G., Min, H., Ahn, Y., Park, M.S., Han, H.R., Jang, H.Y., Cho, E.Y., Lee, J.E., Cho, N.H., Shin, C., Park, T., Park, J.W., Lee, J.K., Cardon, L., Clarke, G., McCarthy, M.I., Lee, J.Y., Lee, J.K., Oh, B., and Kim, H.L. (2009). A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat. Genet . 41, 527-534. https://doi.org/10.1038/ng.357
  2. Finberg, K.E., Heeney, M.M., Campagna, D.R., Aydinok, Y., Pearson, H.A., Hartman, K.R., Mayo, M.M., Samuel, S.M., Strouse, J.J., Markianos, K., Andrews, N.C., and Fleming, M.D. (2008). Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat. Genet. 40, 569-571. https://doi.org/10.1038/ng.130
  3. Ganesh, S.K., Zakai, N.A., van-Rooij, F.J., Soranzo, N., Smith, A.V., Nalls, M.A., Chen, M.H., Kottgen, A., Glazer, N.L., Dehghan, A., Kuhnel, B., Aspelund, T., Yang, Q., Tanaka, T., Jaffe, A., Bis, J.C., Verwoert, G.C., Teumer, A., Fox, C.S., Guralnik, J.M., Ehret, G.B., Rice, K., Felix, J.F., Rendon, A., Eiriksdottir, G., Levy, D., Patel, K.V., Boerwinkle, E., Rotter, J.I., Hofman, A., Sambrook, J.G., Hernandez, D.G., Zheng, G., Bandinelli, S., Singleton, A.B., Coresh, J., Lumley, T., Uitterlinden, A.G., Vangils, J.M., Launer, L.J., Cupples, L.A., Oostra, B.A., Zwaginga, J.J., Ouwehand, W.H., Thein, S.L., Meisinger, C., Deloukas, P., Nauck, M., Spector, T.D., Gieger, C., Gudnason, V., van Duijn, C.M., Psaty, B.M., Ferrucci, L., Chakravarti, A., Greinacher, A., O'Donnell, C.J., Witteman, J.C., Furth, S., Cushman, M., Harris, T.B., and Lin, J.P. (2009). Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat. Genet . 41, 1191-1198. https://doi.org/10.1038/ng.466
  4. Katarzyna, K., Maria, A., Ciemerych, V., I. R., Hirokazu, S., Agnieszka, Z., Ewa, S., Yan, G., Qunyan, Y., Shoumo, B., Roderick, T.B., Koichi, A., and Piotr, S. (2004). Mouse Development and Cell Proliferation in the Absence of D-Cyclins. Cell 118, 477-491. https://doi.org/10.1016/j.cell.2004.07.025
  5. Lee, K., and Kim, S. (2009). A scheme for filtering SNPs imputed in 8,842 Korean individuals based on the international HapMap project data. Genomics Inform. 7, 136-140. https://doi.org/10.5808/GI.2009.7.2.136
  6. Nuinoon, M., Makarasara, W., Mushiroda, T., Setianingsih, I., Wahidiyat, P.A., Sripichai, O., Kumasaka, N., Takahashi, A., Svasti, S., Munkongdee, T., Mahasirimongkol, S., Peerapittayamongkol, C., Viprakasit, V., Kamatani, N., Winichagoon, P., Kubo, M., Nakamura, Y., and Fucharoen, S. (2009). A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/ hemoglobin E. Hum. Genet. 127, 303-314.
  7. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J., and Sham, P.C. (2007). PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet . 81, 559-575. https://doi.org/10.1086/519795
  8. Soranzo, N., Spector, T.D., Mangino, M., Kuhnel, B., Rendon, A., Teumer, A., Willenborg, C., Wright, B., Chen, L., Li, M., Salo, P., Voight, B.F., Burns, P., Laskowski, R.A., Xue, Y., Menzel, S., Altshuler, D., Bradley, J.R., Bumpstead, S., Burnett, M.S., Devaney, J., Doring, A., Elosua, R., Epstein, S.E., Erber, W., Falchi, M., Garner, S.F., Ghori, M.J., Goodall, A.H., Gwilliam, R., Hakonarson, H.H., Hall, A.S., Hammond, N., Hengstenberg, C., Illig, T., König, I.R., Knouff, C.W., McPherson, R., Melander, O., Mooser, V., Nauck, M., Nieminen, M.S., O'Donnell, C.J., Peltonen, L., Potter, S.C., Prokisch, H., Rader, D.J., Rice, C.M., Roberts, R., Salomaa, V., Sambrook, J., Schreiber, S., Schunkert, H., Schwartz, S.M., Serbanovic-Canic, J., Sinisalo, J., Siscovick, D.S., Stark, K., Surakka, I., Stephens, J., Thompson, J.R., Völker, U., Volzke, H., Watkins, N.A., Wells, G.A., Wichmann, H.E., Van-Heel, D.A., Tyler-Smith, C., Thein, S.L., Kathiresan, S., Perola, M., Reilly, M.P., Stewart, A.F., Erdmann, J., Samani, N.J., Meisinger, C., Greinacher, A., Deloukas, P., Ouwehand, W.H., and Gieger, C. (2009). A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat. Genet . 41, 1182-1190. https://doi.org/10.1038/ng.467
  9. Yoichiro, K., Koichi, M., Yukinori, O., Michiaki, K., Naoya, H., Yataro, D., Yusuke, N., and Naoyuki, K. (2010). Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat. Genet. 42, 210-215. https://doi.org/10.1038/ng.531

피인용 문헌

  1. Genome-Wide Association Studies of the Korea Association REsource (KARE) Consortium vol.8, pp.3, 2010, https://doi.org/10.5808/GI.2010.8.3.101
  2. Gene Set Analyses of Genome-Wide Association Studies on 49 Quantitative Traits Measured in a Single Genetic Epidemiology Dataset vol.11, pp.3, 2013, https://doi.org/10.5808/GI.2013.11.3.135