대한의생명과학회지 (Biomedical Science Letters)

  • 제15권1호
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  • Pages.101-103
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  • 2009
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  • 1738-3226(pISSN)
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  • 2288-7415(eISSN)
대한의생명과학회 (The Korean Society for Biomedical Laboratory Sciences)
권호 표지

Association of Hepatocyte Nuclear Factor-$4{\alpha}$ (HNF-$4{\alpha}$) Polymorphisms (rs1884614) with Type 2 Diabetes in Korean Population

  • ;
  • 유민 (계명대학교 자연과학대학 생물학과)
  • Kim, Su-Won (Department of Biology, College of Natural Sciences, Keimyung University) ;
  • Yoo, Min (Department of Biology, College of Natural Sciences, Keimyung University)
  • 발행 : 2009.03.31
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초록

The hepatocyte nuclear factor-$4{\alpha}$ (HNF-$4{\alpha}$), transcription factor involved in the regulation of serum lipid and glucose levels, has recently been reported to be associated with type 2 diabetes. Therefore, we investigated the genotype for the rs1884614 of HNF-$4{\alpha}$ gene in Korean population and compared genotype of patients with control group. 100 patients (Male 63, Female 37), who previously underwent type 2 diabetes (T2DM) and 100 controls (Male 36, Female 64) participated in this study. According to our present study there was no association between rs1884614 polymorphism in HNF-$4{\alpha}$ gene and T2DM in Koreans although other reports showed that HNF-$4{\alpha}$ polymorphisms might be associated with the pathogenesis of T2DM in Pima Indians et al. We assume that this finding should contribute to understanding of type 2 diabetes in Korean population in detail at genetic level.

키워드

참고문헌

  1. Duggirala R, Blangero J, Almasy L, Dyer TD, Williams KL, Leach RJ, O'Connell P, Stern MP. Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet. 1999. 64: 1127 -1140. https://doi.org/10.1086/302316
  2. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N. Engl. J. Med. 2001. 345: 971-980. https://doi.org/10.1056/NEJMra002168
  3. Heman WH, Fajans SS, Smith MJ, Polonsky KS, Bell GI, Halter JB. Diminished insulin and glucagons secretory responses to arginine in nondiabetic subject with a mutation in the hepatocyte nuclear factor 4A/MODY1 gene. Diabetes 1997. 46: 1749-1754. https://doi.org/10.2337/diabetes.46.11.1749
  4. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bel GI. Mutations in the hepatocyte nuclear factor-1 $\beta$ gene asssociated with MODY3. Nat Genet. 1977. 17: 384-385. https://doi.org/10.1038/ng1297-384
  5. Love-Gregory LD, Wasson J, Ma J, Jin CH, Glaser B, Suarez BK, Permutt MA. A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4$\alpha$ gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for likage in an Ashkenazi Jewish population. Diabetes 2004. 53: 1134-1140. https://doi.org/10.2337/diabetes.53.4.1134
  6. Muller YL, Indante AM, Hanson RL, Love-Gregory L, Knowler W, Bogardus C, Baier LJ. Variants in hepatocyte nuclear factor 4$\alpha$ are modestly associated with type 2 diabetes in Pima Indians. Diabetes 2005. 54: 3035-3039. https://doi.org/10.2337/diabetes.54.10.3035
  7. Rissanen J, Wang H, Miettinen R, Karkkainen P, Mykkanen L, Kuusisto J, Karhapaa P, Niskanen L, Uusitapa M, Laakso M. Variants in the hepatocyte nuclear factor-1$\alpha$ and 4$\alpha$ genes in Finnish and Chinese subjects with late-onset type 2 diabetes. Diabetes Care 2000. 23: 1533-1538.
  8. Stoffel M, Duncan SA. The maturity-onset diabetes of the young (MODY1) transcription factor-HNF-4$\alpha$regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci USA. 1997. 94: 13209-13214.
  9. Tattersall RB, Fajans SS. A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people. Diabetes 1975. 24: 44-53. https://doi.org/10.2337/diabetes.24.1.44
  10. Vaxillaire M, Dina C, Lobbens S, Dechaume A, Vasseur-Delannoy V, Helbecque N, Charpentier G, Froguel P. Effect of common polymorphisms in the HNF4$\alpha$ promoter on susceptilbility to type 2 diabetes in the French Caucasian population. Diabetologia 2005. 48: 440-444. https://doi.org/10.1007/s00125-004-1665-3
  11. Wang H, Malchler P, Antirlozzi PA, Hanenfeldt KA. HNF-$4\alpha$ regulates the expression of pancreatic beta cell genes implicated in glucose metabolism and nutrient-induced insulin secretion. J Biol Chem. 2000. 275: 35953-35959. https://doi.org/10.1074/jbc.M006612200
  12. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathro GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattarsley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI. Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996. 384: 455-458. https://doi.org/10.1038/384455a0
  13. Yokoi N, Kanmori M, Horikawa Y, Takeda J, Sanke T, Furuta H, Nanjo K, Mori H, Kasuga M, Hara K, Kadowaki T, Tanizawa Y, Oka Y, Iwami Y, Ohgawara H, Yamade Y, Seino Y, Yano H, Cos NJ, Seino S. Association studies of variants in the genes involved in pancreatic $\beta$-cell function in type 2 diabetes in Japanese subjects. Diabetes 2006. 55: 2379-2386. https://doi.org/10.2337/db05-1203
  14. Yoo M, Kim SW. Association of hepatocyte nuclear factor-4$\alpha$ polymorphisms with type 2 diabetes in Koreans. J Life Sci. 2009. (in press)
  15. Zhu Q, Yamagata K, Miura A, Shihara N, Horikawa Y, Takeda J, Miyagawa J, Matsuzawa Y. T3011 mutation in HNF-4$\alpha$ gene is a loss-of-function mutation in hepatocyte and is association with late-onset type 2 diabetes mellitus in Japanese subjects. Diabetolgia 2003. 46: 567-573. https://doi.org/10.1007/s00125-003-1067-y