Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese

Journal of Human Genetics

Volumn 55, Issue 12, 2010, Pages 810-815

  Zhou, Dai Zhan ^a,b   Liu, Yun ^c   Zhang, Di ^a,b   Liu, Si Min ^d   Yu, Lan ^b,e   Yang, Yi Feng ^a,b   Zhao, Teng ^a,b   Chen, Zhuo ^a,b   Kan, Meng Yuan ^a,b   Zhang, Zuo Feng ^d   Feng, Guo Yin ^a,b   Xu, He ^a,b,d   He, Lin ^a,b,c  

^a Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c FUDAN UNIVERSITY   (China)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

association study; Han Chinese population; HHEX; type 2 diabetes

Indexed keywords

ADULT; AGED; ARTICLE; CHINESE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HHEX IDE GENE; HUMAN; JAZF1 GENE; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; POPULATION BASED CASE CONTROL STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TSPAN8 LGR5 GENE;

AGED; ANTIGENS, NEOPLASM; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 7; DIABETES MELLITUS, TYPE 2; FEMALE; GENE FREQUENCY; GENETIC LOCI; GENETIC VARIATION; HOMEODOMAIN PROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, G-PROTEIN-COUPLED; RISK; TRANSCRIPTION FACTORS;

EID: 78650563356     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.117     Document Type: Article

References (35)

1. Prokopenko, I., McCarthy, M. I. & Lindgren, C. M. Type 2 diabetes: New genes, new understanding. Trends Genet. 24, 613-621 (2008).
2. Stancakova, A., Kuulasmaa, T., Paananen, J., Jackson, A. U., Bonnycastle, L. L., Collins, F. S. et al. Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5327 nondiabetic Finnish men. Diabetes 58, 2129-2136 (2009).
3. Hu, C., Zhang, R., Wang, C., Wang, J., Ma, X., Lu, J. et al. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS ONE 4, e7643 (2009).
4. Liu, Y., Zhou, D. Z., Zhang, D., Chen, Z., Zhao, T., Zhang, Z. et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes in the population of mainland China. Diabetologia 52, 1315-1321 (2009).
5. Tan, J. T., Ng, D. P., Nurbaya, S., Ye, S., Lim, X. L., Leong, H. et al. Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore. J. Clin. Endocrinol. Metab. 95, 390-397 (2009).
6. Wu, Y., Li, H., Loos, R. J., Yu, Z., Ye, X., Chen, L. et al. Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Diabetes 57, 2834-2842 (2008).
7. Zeggini, E., Scott, L. J., Saxena, R., Voight, B. F., Marchini, J. L., Hu, T. et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat. Genet. 40, 638-645 (2008). (Pubitemid 351601209)
8. Boesgaard, T. W., Gjesing, A. P., Grarup, N., Rutanen, J., Jansson, P. A., Hribal, M. L. et al. Variant near ADAMTS9 known to associate with type 2 diabetes is related to insulin resistance in offspring of type 2 diabetes patients-EUGENE2 study. PLoS ONE 4, e7236 (2009).
9. Grarup, N., Andersen, G., Krarup, N. T., Albrechtsen, A., Schmitz, O., Jorgensen, T. et al. Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/ CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4516 glucose-tolerant middleaged Danes. Diabetes 57, 2534-2540 (2008).
10. Simonis-Bik, A. M., Nijpels, G., van Haeften, T. W., Houwing-Duistermaat, J. J., Boomsma, D. I., Reiling, E. et al. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A and MTNR1B affect different aspects of pancreatic beta cell function. Diabetes 59, 293-301 (2009).
11. Omori, S., Tanaka, Y., Horikoshi, M., Takahashi, A., Hara, K., Hirose, H. et al. Replication study for the association of new meta-analysis-derived risk loci with susceptibility to type 2 diabetes in 6244 Japanese individuals. Diabetologia. 52, 1554-1560 (2009).
12. Sanghera, D. K., Been, L., Ortega, L., Wander, G. S., Mehra, N. K., Aston, C. E. et al. Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs. J. Hum. Genet. 54, 162-168 (2009).
13. Takeuchi, F., Serizawa, M., Yamamoto, K., Fujisawa, T., Nakashima, E., Ohnaka, K. et al. Confirmation of multiple risk loci and genetic impacts by a genome-wide association study of type 2 diabetes in the japanese population. Diabetes 58, 1690-1699 (2009).
14. Meigs, J. B., Panhuysen, C. I., Myers, R. H., Wilson, P. W. & Cupples, L. A. A genomewide scan for loci linked to plasma levels of glucose and HbA(1c) in a community-based sample of Caucasian pedigrees: The Framingham Offspring Study. Diabetes 51, 833-840 (2002).
15. Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I., Chen, H. et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.) 316, 1331-1336 (2007). (Pubitemid 46871653)
16. Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L. et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (New York, N.Y.) 316, 1341-1345 (2007). (Pubitemid 46871655)
17. Sladek, R., Rocheleau, G., Rung, J., Dina, C., Shen, L., Serre, D. et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445, 881-885 (2007). (Pubitemid 46309843)
18. WTCCC. Genome-wide association study of 14,000 cases of seven common diseases and 3000 shared controls. Nature 447, 661-678 (2007).
19. van Vliet-Ostaptchouk, J. V., Onland-Moret, N. C., van Haeften, T. W., Franke, L., Elbers, C. C., Shiri-Sverdlov, R. et al. HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort. Eur. J. Hum. Genet. 16, 652-656 (2008). (Pubitemid 351594133)
20. Liu, Y., Yu, L., Zhang, D., Chen, Z., Zhou, D. Z., Zhao, T. et al. Positive association between variations in CDKAL1 and type 2 diabetes in Han Chinese individuals. Diabetologia 51, 2134-2137 (2008).
21. Zhou, D., Zhang, D., Liu, Y., Zhao, T., Chen, Z., Liu, Z. et al. The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population. J. Hum. Genet. 54, 433-435 (2009).
22. Groves, C. J., Wiltshire, S., Smedley, D., Owen, K. R., Frayling, T. M., Walker, M. et al. Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. Diabetes 52, 1300-1305 (2003). (Pubitemid 36523374)
23. Gu, H. F., Efendic, S., Nordman, S., Ostenson, C. G., Brismar, K., Brookes, A. J. et al. Quantitative trait loci near the insulin-degrading enzyme (IDE) gene contribute to variation in plasma insulin levels. Diabetes 53, 2137-2142 (2004). (Pubitemid 38970767)
24. Mueller, J. C., Riemenschneider, M., Schoepfer-Wendels, A., Gohlke, H., Konta, L., Friedrich, P. et al. Weak independent association signals between IDE polymorphisms, Alzheimer's disease and cognitive measures. Neurobiol. Aging 28, 727-734 (2007). (Pubitemid 46349351)
25. Steinthorsdottir, V., Thorleifsson, G., Reynisdottir, I., Benediktsson, R., Jonsdottir, T., Walters, G. B. et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat. Genet. 39, 770-775 (2007). (Pubitemid 46848592)
26. Zeggini, E., Weedon, M. N., Lindgren, C. M., Frayling, T. M., Elliott, K. S., Lango, H. et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (New York, NY) 316, 1336-1341 (2007). (Pubitemid 46871654)
27. Shi, Y. Y. & He, L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 15, 97-98 (2005). (Pubitemid 41653949)
28. Ng, M. C., Park, K. S., Oh, B., Tam, C. H., Cho, Y. M., Shin, H. D. et al. Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians. Diabetes 57, 2226-2233 (2008).
29. Florez, J. C., Jablonski, K. A., McAteer, J., Sandhu, M. S., Wareham, N. J., Barroso, I. et al. Testing of diabetes-associated WFS1 polymorphisms in the diabetes prevention program. Diabetologia 51, 451-457 (2008).
30. Farris, W., Mansourian, S., Chang, Y., Lindsley, L., Eckman, E. A., Frosch, M. P. et al. Insulin-degrading enzyme regulates the levels of insulin, amyloid beta-protein, and the beta-amyloid precursor protein intracellular domain in vivo. Proc. Natl Acad. Sci. U.S.A. 100, 4162-4167 (2003). (Pubitemid 36418174)
31. Karamohamed, S., Demissie, S., Volcjak, J., Liu, C., Heard-Costa, N., Liu, J. et al. Polymorphisms in the insulin-degrading enzyme gene are associated with type 2 diabetes in men from the NHLBI Framingham Heart Study. Diabetes 52, 1562-1567 (2003). (Pubitemid 36666215)
32. Cauchi, S., Proenca, C., Choquet, H., Gaget, S., De Graeve, F., Marre, M. et al. Analysis of novel risk loci for type 2 diabetes in a general French population: The D.E.S.I.R. study. J. Mol. Med. (Berlin, Germany) 86, 341-348 (2008).
33. Omori, S., Tanaka, Y., Takahashi, A., Hirose, H., Kashiwagi, A., Kaku, K. et al. Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes 57, 791-795 (2008).
34. Pivovarova, O., Nikiforova, V. J., Pfeiffer, A. F. & Rudovich, N. The influence of genetic variations in HHEX gene on insulin metabolism in the German MESYBEPO cohort. Diabetes Metab. Res. Rev. 25, 156-162 (2009).
35. Collins, L. L., Lee, Y. F., Heinlein, C. A., Liu, N. C., Chen, Y. T., Shyr, C. R. et al. Growth retardation and abnormal maternal behavior in mice lacking testicular orphan nuclear receptor 4. Proc. Natl Acad. Sci. U.S.A. 101, 15058-15063 (2004).