Investigation of glucocorticoid receptor and calpain-10 gene polymorphisms in Turkish patients with type 2 diabetes mellitus
Investigation of glucocorticoid receptor and calpain-10 gene polymorphisms in Turkish patients with type 2 diabetes mellitus
Background/aim: We proposed to investigate the role of calpain-10 (CAPN10) gene single nucleotide polymorphism (SNP)-19 and SNP-44 and glucocorticoid receptor (NR3C1) gene N363S polymorphisms in Turkish patients with type 2 diabetes mellitus (T2DM). Materials and methods: Peripheral blood samples were obtained from 125 patients with T2DM and 112 healthy volunteers. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: There were no statistically significant differences found between the allele and genotype frequencies of CAPN10 SNP-19, CAPN10 SNP-44, and NR3C1 N363S polymorphisms and T2DM development (P > 0.05). The CAPN10 SNP-19 del-allele, CAPN10 SNP44 C-allele, and NR3C1 N363S G-allele were determined to be risk factors for T2DM development. In T2DM patients an association was identified between the CAPN10 SNP-19 del-allele, homozygous del/del genotype, SNP-44 C-allele, heterozygous TC genotype, NR3C1 N363S G-allele, heterozygous AG genotype, and increased BMI. Conclusion: The present study demonstrates that the SNP-44 polymorphism is associated with T2DM susceptibility and contributes to the risk of T2DM.
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- 1. Olefsky JM. Prospects for research in diabetes mellitus. J Am Med Assoc 2000; 285: 628-632.
- 2. Goll DE, Thompson VF, Li H, Wei W, Cong J. The calpain system. Physiol Rev 2003; 83: 731-801.
- 3. Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PEH et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000; 26: 163-175.
- 4. Huizenga NA, Koper JW, De Lange P, Pols HAP, Stolk RP, Burger H, Grobbee DE, Brinkmann AO, De Jong FH, Lamberts SWJ. A polymorphism in the glucocorticoid receptor gene may be associated with an increased sensitivity to glucocorticoids in vivo. J Clin Endocrinol Metab 1998; 83: 144-151.
- 5. Rasmussen SK, Urhammer SA, Berglund L, Jensen JN, Hansen L, Echwald SM, Borch-Johnsen K, Horikawa Y, Mashima H, Lithell H et al. Variants within the calpain-10 gene on chromosome 2q37 (NIDDN1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians. Diabetes 2002; 51: 3561-3568.
- 6. Parra EJ, Hoggart CJ, Bonilla C, Dios S, Norris JM, Marshall JA, Hamman RF, Ferrell RE, McKeigue PM, Shriver MD. Relation of type 2 diabetes to individual admixture and candidate gene polymorphisms in the Hispanic American population of San LuisValley, Colorado. J Med Genet 2004; 41: 1-9.
- 7. Zaharna MM, Abed AA, Sharif FA. Calpain-10 gene polymorphism in type 2 diabetes mellitus patients in the Gaza Strip. Med Pric Proct 2010; 19: 457-462.
- 8. Ezzidi I, Turki A, Messaoudi S, Chaieb M, Kacem M, AlKhateeb GM, Mahjoub T, Almawi WY, Mtiraoui N. Common polymorphisms of calpain-10 and the risk of type 2 diabetes in a Tunisian Arab population: a case control study. BMC Genet 2010; 11: 75.
- 9. Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, ORahilly S, Rao PVS, Bennett AJ et al. Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet 2001; 69: 554-552.
- 10. Arslan E, Acik L, Gunaltili G, Ayvaz G, Altinova AE, Arslan M. The effect of calpain-10 gene polymorphism on the development of type 2 diabetes mellitus in a Turkish population. Endokrynologia Polska 2014; 65: 90-95.
- 11. Lin RCY, Wang XL, Dalziel B, Caterson ID, Morris BJ. Association of obesity, but not diabetes or hypertension, with glucocorticoid receptor N363S variant. Obes Res 2003; 11: 802-808.