East Asian Genome-wide association study derived loci in relation to type 2 diabetes in the Han Chinese population

  • Esma Jamaspishvili Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
  • Sijia Zhang Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
  • Huixin Tong 1Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
  • Yongjie Chen Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
  • Zhongyu Zhou Epigenetic Department, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
  • Lulu Sun Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
  • Elena Kazakova Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
  • Qiao Hong Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
DOI: https://doi.org/10.18388/abp.2018_2632

Abstract

Meta-analysis of GWAS in East Asian populations had established 10 loci that were associated with type 2 diabetes. Eight of them were with genome-wide significance and two with a border line association. Since these data have not been studied in an independent Han Chinese population, we aimed to investigate the association of these susceptibility loci with type 2 diabetes in an independent Han Chinese population. We executed a case-control study in 2 000 Chinese by the SNPscan method. Firstly, the repetitive sequences of 10 loci were assessed. Next, we investigated the association of 8 SNPs out of 10 with type 2 diabetes and constructed the GRS of those 8 SNPs. Finally, the relationship of the 8 loci and diabetes-related traits was analyzed. Based on the fact, that highly repetitive sequences were detected in 2 SNPs, we investigated the remaining 8 SNPs. With the exception of four SNPs (CMIP rs16955379, PEPD rs3786897, PSMD6 rs831571, ZFAND3 rs9470794), the other SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports, especially GLIS3 rs7041847 and KCNK16 rs1535500 were significantly associated with type 2 diabetes (rs1535500: p=0.005, OR=1.224, 95% CI 1.062–1.409; rs7041847: p=0.035, OR=1.118, 95% CI 1.070–1.388). The GRS constructed from the 8 SNPs was significantly associated with type 2 diabetes in the Chinese population (p=0.004, OR=1.065, 95% CI: 1.021–1.111). Among the participants with 24≤BMI<28 kg/m2 the 8 SNPs were significantly associated with type 2 diabetes (p=0.040, OR=1.079, 95% CI: 1.003–1.160). In quantitative trait analyses, WWOX rs17797882 was associated with decreased HOMA-β and increased level of TG and HDL-Ch, while PEPD rs3786897 and MAEA rs6815464 were associated with decreased fasting plasma glucose, and KCNK16 rs1535500 has shown a significant association with increased T-Ch and PSMD6 rs831571 had a significant association with decreased HDL-Ch. In Conclusion, with high probability the 8 loci identified in the East Asian GWAS meta-analysis are associated with type 2 diabetes in the Han Chinese population.

References

Sakai, K., Imamura, M., Tanaka, Y., Iwata, M., Hirose, H., Kaku, K.Maeda, S. (2013). Replication Study for the Association of 9 East Asian GWAS-Derived Loci with Susceptibility to Type 2 Diabetes in a Japanese Population. PLoS One, 8(9), [e76317]. DOI: 10.1371/journal.pone.0076317 https://doi.org/10.1371/journal.pone.0076317

Xu Y, Wang L, He J, Bi Y, Li M, Wang T, Wang L, Jiang Y, Dai M, Lu J, Xu M, Li Y, Hu N, Li J, Mi S, Chen C, Li G, Mu Y, Zhao J, Kong L, Chen J, Lai S, Wang W, Zhao W, Ning G, for the 2010 China Noncommunicable Disease Surveillance Group. Prevalence and Control of Diabetes in Chinese Adults. JAMA.2013; 310 (9):948–959. 10.1001/jama.2013.168118.

Peterson RE, Maes HH, Holmans P, Sanders AR, Levinson DF, Shi J, Kendler KS, Gejman PV, Webb BT. Genetic risk sum score comprised of common polygenic variation is associated with body mass index. Hum Genet, 2011, 129 (2):221-30. DOI:10.1007/s00439-010-0917-1

Iwata M, Maeda S, Kamura Y, Takano A, Kato H, Murakami S, Higuchi K, Takahashi A, Fujita H, Hara K, Kadowaki T, Tobe K. Genetic risk score constructed using 14 susceptibility alleles for type 2 diabetes is associated with the early onset of diabetes and may predict the future requirement of insulin injections among Japanese individuals. Diabetes Care, 2012, 35 (8):1763-70. DOI: 10.2337/dc11-2006

McCarthy, M.I. & Zeggini, E. Curr Diab Rep (2009) 9: 164. https://doi.org/10.1007/s11892-009-0027-4

Chiefari E, Tanyolac S, Paonessa F, Pullinger CR, Capula C, Iiritano S, Mazza T, Forlin M, Fusco A, Durlach V, Durlach A, Malloy MJ, Kane JP, Heiner SW, Filocamo M, Foti DP, Goldfine ID, Brunetti A. Functional variants of the HMGA1 gene and type 2 diabetes mellitus. JAMA, 2011, 305 (9):903-12. DOI: 10.1001/jama.2011.207

Hu C, Zhang R, Wang C, Wang J, Ma X, Lu J, Qin W, Hou X, Wang C, Bao Y, Xiang K, Jia W. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS One, 2009,4(10):e7643. DOI: 10.1371/journal.pone.0007643

Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, Takeuchi F, Wu Y, Go MJ, Yamauchi T, Chang YC, Kwak SH, Ma RC, Yamamoto K, Adair LS, Aung T, Cai Q, Chang LC, Chen YT, Gao Y, Hu FB, Kim HL, Kim S, Kim YJ, Lee JJ, Lee NR, Li Y, Liu JJ, Lu W, Nakamura J, Nakashima E, Ng DP, Tay WT, Tsai FJ, Wong TY, Yokota M, Zheng W, Zhang R, Wang C, So WY, Ohnaka K, Ikegami H, Hara K, Cho YM, Cho NH, Chang TJ, Bao Y, Hedman AK, Morris AP, McCarthy MI, Takayanagi R, Park KS, Jia W, Chuang LM, Chan JC, Maeda S, Kadowaki T, Lee JY, Wu JY, Teo YY, Tai ES, Shu XO, Mohlke KL, Kato N, Han BG, Seielstad M. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet, 2012, 44 (1):67-72. DOI: 10.1038/ng.1019

Imamura M, Maeda S, Yamauchi T, Hara K, Yasuda K, Morizono T, Takahashi A, Horikoshi M, Nakamura M, Fujita H, Tsunoda T, Kubo M, Watada H, Maegawa H, Okada-Iwabu M, Iwabu M, Shojima N, Ohshige T, Omori S, Iwata M, Hirose H, Kaku K, Ito C, Tanaka Y, Tobe K, Kashiwagi A, Kawamori R, Kasuga M, Kamatani N, Nakamura Y, Kadowaki T. A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 Diabetes in Japanese populations. Hum Mol Genet, 2012, 21 (13):3042-9. DOI:10.1093/hmg/dds113

Bao XY, Peng B, Yang MS. Replication study of novel risk variants in six genes with type 2 diabetes and related quantitative traits in the Han Chinese lean individuals. Mol Biol Rep, 2012,39(3):2447-54. DOI: 10.1007/s11033-011-0995-8

Alberti KG, Zimmet PZ.Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med, 1998, 15 (7):539-53. DOI: 10.1002/(SICI)1096-9136(199807)15:7<539::AID-DIA668>3.0.CO;2-S

Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia, 1985, 28 (7):412-9.

Xu, Miaofei, Yufeng Qin, Jianhua Qu, Chuncheng Lu, Ying Wang, Wei Wu, Ling Song, Shoulin Wang, Feng Chen, Hongbing Shen, Jiahao Sha, Zhibin Hu, Yankai Xia, and Xinru Wang. "Evaluation of Five Candidate Genes from GWAS for Association with Oligozoospermia in a Han Chinese Population", PLoS ONE, 2013. DOI:10.1371/journal.pone.0080374

Sanada H, Yokokawa H, Yoneda M, Yatabe J, Sasaki YM, Williams SM, Felder RA, Jose PA. High body mass index is an important risk factor for the development of type 2 diabetes. Intern Med, 2012, 51 (14):1821-6. PMID: 22821094

Stevens J, Truesdale KP, Katz EG, Cai J (2008) Impact of body mass index on incident hypertension and diabetes in Chinese Asians, American Whites, and American Blacks: the People’s Republic of China Study and the Atherosclerosis Risk in Communities Study. Am J Epidemiol 167: 1365–1374. doi:10.1093/aje/kwn060.

Xi B, Takeuchi F, Chandak GR, Kato N, Pan HW, et al. (2012) Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals. Diabetologia 55: 2660–2666. DOI:10.1007/s00125-012-2655-5

Han X, Luo Y, Zhang X, Lv C, Sun X, et al. (2013) Rs4074134 near BDNF gene is associated with type 2 diabetes mellitus in Chinese Han population independently of body mass index. PLoS One 8: e56898. DOI:10.1371/journal.pone.0056898

Sakai K, Imamura M, Tanaka Y, Iwata M, Hirose H, Kaku K, Maegawa H, Watada H, Tobe K, Kashiwagi A, Kawamori R, Maeda S. Replication study for the association of 9 East Asian GWAS-derived loci with susceptibility to type 2 diabetes in a Japanese population. PLoS One, 2013, 8 (9):e76317.DOI: 10.1371/journal.pone.0076317

Mogre V, Salifu ZS, Abedandi R. Prevalence, components and associated demographic and lifestyle factors of the metabolic syndrome in type 2 diabetes mellitus. J Diabetes Metab Disord, 2014, 13:80. DOI: 10.1186/2251-6581-13-80

Published
2019-05-30
Issue
Vol. 66 No. 2 (2019)
Section
Articles

Acta Biochimica Polonica is an OpenAccess quarterly and publishes four issues a year. All contents are distributed under the Creative Commons Attribution-ShareAlike 4.0 International (CC BY 4.0) license. Everybody may use the content following terms: Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.

Copyright for all published papers © stays with the authors.

Copyright for the journal: © Polish Biochemical Society.