Allele and Genotype Frequency of Sulfonylurea Receptor-1 (Sur-1) Gene in Type 2 Diabetes among Javanese Population

  • YUNITA LINAWATI UNIVERSITAS SANATA DHARMA

Abstract

Type 2 diabetes is a metabolic disorder that results from insulin secretion disorder, insulin action or both. SUR1 gene is part of KATP channel in the pancreatic β-cell that plays an essential role related with cell membrane depolarization and glucose-induced insulin secretion. The polymorphism p.R1273R of SUR1 gene, causes KATP channel failed to give feedback to metabolic activation, failed of closing KATP channel, reduces insulin secretion, impaired glucose tolerance, and causes type 2 diabetes. This is case-control study using 80 subjects consist of 40 subjects with type 2 diabetes as case and 40 subjects of non diabetes as control. The SUR1 gene p.R1273R polymorphism genotyping were detected by PCRRFLP. Data were statistically analyzed by t-test, Chi-Square. The genotype frequency distribution of p.R1273R SUR1 gene in type 2 diabetes subjects were 90% of GG genotype and 10% of AG genotype. In non diabetes subjects, GG genotype was 87,5% and AG genotype was 12.5%. In type 2 diabetes and non diabetes subjects the AA genotype was not observed. The allele frequency distribution in type 2 diabetes subjects G allele was 95% and A allele was 5%, in non diabetes subjects G allele was 93.75% and A allele was 6.25%. All the genotype and allele frequency distributions in type 2 diabetes and non diabetes subjects were not statistically significant (p = .723 genotype frequency; p = 0.732 allel frequency).

References

1. Wild S. Diabetes action now: an initiative of the World Health Organization and the International Diabetes Federation, Diabetes Care. Diabetes Care. 2004. 23: 1121.

2. Wild S, Roglic G, Green A, Sicre R, King H. Global Prevalence of Diabetes: Estimates for the year 2000 andprojections for 2030. Diabetes Care. 2004. 27: 1047-53.

3. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2005. 28 (Suppl 1): S37-S42.

4. Amos A, McCarty D, Zimmet P. The rising global burden of diabetes and its complications: Estimates and projections to the year 2010. Diabetic Med. 1997. 14 (Suppl 5): S1-S85.

5. American Diabetes Association. Diagnosis and Classification of Diabetes. Diabetes Care. 2007. 30 (Suppl 1): S42-S47.

6. De Fronzo. Pathogenesis of type 2 diabetes: metabolic and molecular implications for identifying diabetes genes. Diabetes Rev, 1997. 5: 177-269.

7. Velho G and Froguel P. The genetic determinants of NIDDM: strategies and recent results, Diabetes Metab. 1997. 23: 7-17.

8. Radha V, Vimaleswaran KS, Deepa R, Mohan V. The Genetics of diabetes mellitus, Indian J Med Res, 2003. 117: 225-38.

9. Permutt MA, Wasson J, Cox N. Genetic Epidemiology of Diabetes. J. Clin. Invest. 2005. 115: 1431-1439.

10. Goksel DL, Fischbach K, Duggirala R, Mitchell BD,Aguilar-Bryan L, Blangero J, Stern MP, O’Connell P. Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia. Hum Genet. 1998. 103: 280-5.

11. Reis AF, Ye WZ, Dubois-Laforgue D, Bellane-Chantelot C, Timsit J, Velho G. Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type

2 diabetes mellitus in French Caucasian. Hum Genet. 2000. 107: 138-44.

12. Rissanen J, Markkanen A, Karkkainen P, Pihlajamaki J, Kekalainen P, Mykkanen L, Kuusisto J, Karhapaa P, Niskanen L, Laakso M. Sulfonylurea receptor-1 gene variants are associated with gestational diabetes and type 2 diabetes but not with altered secretion of insulin. Diabetes Care. 2000. 23: 70-3.

13. Laukkanen O, Pihlahamaki J, Lindstrom J, Eriksson J,Valle TT, Hamalainen H, Hanne-Parikka P, Keinanen- Kiukaanniemi S, Tuomilehto J, Uusitupa M, Laakso M, Finnish Diebetes Prevention Study Group. Polymorphism of the SUR1 (ABCC8) and Kir 6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes, The Finish Diabetes Prevention Study. J. Clin Endocrinol Metab. 2004. 89: 6286-90.

14. Yokoi N, Kanamori M, Horikawa Y, Takeda J, SankeT, Furuta H, Nanjo K, Mori H, Kasuga M, Hara K, Kadowaki T, Tanizawa Y, Oka Y, Iwami Y, Ohgawara H, Yamada Y, Seino Y, Yano H, Cox NJ, Seino S. Association studies of variants in the gene involved in pancreatic β-cell function in type 2 diabetes in Japanese subjects. Diabetes. 2008. 55: 2379-86.

15. Christiakov DA, Potapov VA, Khodirev DS, Shamkhalova MS, Shestakova MV, Nosikov VV. The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to type 2 diabetes, glucose tolerance and altered insulin secretion in a Russian population. Diabetes India. 2008. 185-91.
Published
2012-09-30
How to Cite
LINAWATI, YUNITA. Allele and Genotype Frequency of Sulfonylurea Receptor-1 (Sur-1) Gene in Type 2 Diabetes among Javanese Population. JURNAL ILMU KEFARMASIAN INDONESIA, [S.l.], v. 9, n. 2, p. 131-135, sep. 2012. ISSN 2614-6495. Available at: <http://jifi.farmasi.univpancasila.ac.id/index.php/jifi/article/view/301>. Date accessed: 20 apr. 2024.
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Articles