Association between a nucleotide polymorphism in the calpain 10 gene and carbohydrate metabolism disturbances in patients with polycystic ovary syndrome

• Authors: Szydlarska Dorota , Machaj Małgorzata
• Languages of publication: EN

Keywords

EN

diabetes; hyperandrogenism; single nucleotide polymorphism.

• Publisher: Stowarzyszenie Przyjaciół Medycyny Rodzinnej i Lekarzy Rodzinnych
• Journal: Family Medicine & Primary Care Review
• Year: 2016
• Issue: 4
• Pages: 497-500

Contributors

author

Szydlarska Dorota

author

Machaj Małgorzata

References

• Szydlarska D, Grzesiuk W, Bar-Andziak E. Kontrowersje wokół patogenezy zespołu policystycznych jajników. Endokrynol Otył Zab Przem Mat 2010; 3(6): 141–146.
• Hanis CL, Boerwinkle E, Chakraborty R, et al. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 1996; 13(2): 161–166.
• Horikawa Y, Oda N, Cox NJ, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.Nat Genet 2000; 26(2): 163–175.
• Colilla S, Cox NJ, Ehrmann DA. Heritability of insulin secretion and insulin action in women with polycystic ovary syndrome and their first degree relatives. J Clin Endocrinol Metab 2001; 86(5): 2027–2031.
• Baier LJ, Permana PA, Yang X, et al. A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J Clin Invest 2000; 106(7): 69–73.
• Frayling TM, Evans JC , Ellard S, et al. Study group BDA Warren 2 Consortium: Transmission disequilibrium at the calpain10//NIDDM1 gene in UK Caucasian type 2 diabetes parent-offspring trios. Diabetes 2000; 49(Suppl. 1): 30.
• Cox NJ, Frigge M, Nicolae DL, et al. Loci on chromosome 2 (NIDDM1) and 15 interact to increase susceptibility to type 2 diabetes in Mexican Americans. Nat Genet 1999; 21(2): 213–215.
• Martinez E, Conget I, Lozano L, et al. Reversion of metabolic abnormalities after switching from HIV-1 protease inhibitors to nevirapine. AIDS 1999; 13(7): 805–810.
• Sorimachi H, Ishiura S, Suzuki K. Structure and physiological function of calpains. Biochem J 1997; 328(3): 721–732.
• Ravid A, Koren R, Rotem C, et al. 1,25-dihydroxyvitamin D3 increases the cellular content of the calcium-activated neutral protease mu-calpain in renal cell carcinoma. Endocrinology 1994; 135(6): 2822–2825.
• Horikawa Y, Oda N, Cox NJ, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.Nat Genet 2000; 26(2): 163–175.
• Evans JC , Frayling TM, Cassell PG, 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(3): 544–552.
• Conn JJ , Jacobs HS, Conway GS. The prevalence of polycystic ovaries in women with type 2 diabetes mellitus. Clin Endocrinol (Oxf) 2000; 52(1): 81–86.
• Marquez JL, Pacheco A, Valdes P, et al. Association between CA PN10 UCSNP-43 gene polymorphism and polycystic ovary syndrome in Chilean women. Clinica Chimica Acta 2008; 398(1–2): 5–9.
• Wiltgren D, Furtado L, Kohek MB, et al. CA PN 10 UCSNP-43, UCSNP-19 and UCSNP-63 polymorphism and metabolic syndrome in polycystic ovary syndrome. Gynecol Endocrinol 2007; 23(3): 173–178.
• Gonzalez A, Abril E, Roca A, et al. Specific CA PN 10 haplotypes influence the clinical profile of polycystic ovary syndrome.J Clin Endocrinol Metab 2003; 88(11): 5529–5536.
• Ehrman D, Schwarz PE, Hara M, et al. Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.J Clin Endocrinol Metab 2002; 87(4): 1669–1673.
• Haddad L, Evans JC , Gharani N, et al. Variation within the type of 2 diabetes susceptibity gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab 2002; 87(6): 2606–2610.
• Orho-Melander M, Klannemark M, Svensson MK, et al. Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels. Diabetes 2002; 51(8): 2658–2664.
• Daimon M, Oizumi T, Saitoh T, et al. Calpain 10 gene polymorphism are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese. Diabetes Res Clin Pract 2002; 56(2): 147–152.
• Carlsson E, Frediksson J, Groop L, et al. Variation in the calpain-10 gene is associated with elevated triglyceride levels and reduced adipose tissue messenger ribonucleic acid expression in obese Swedish subjects. J Clin Endocrinol Metab 2004; 89(7):3601–3605.
• Ben SA, Attaoua R, Mtriraoui N, et al. Common polymorphisms of calpain-10 and the risk of polycystic ovary syndrome in Tunisian population: a case-control study. Mol Biol Rep 2014; 41(10): 6569–6574.
• Flores-Martinez SE, Castro-Martinez AG , Lopez-Quintero A, et al. Association analysis of SNP-63 and indel-19 variant in the calpain-10 gene with polycystic ovary syndrome in women of reproductive age. Cir Cir 2015; 83(1): 35–42.
• Shen W, Li T, Hu Y, et al. Calpain-10 genetic polymorphisms and polycystic ovary syndrome risk: a meta-analysis and metaregression.Gene 2013; 531(2): 426–434.
• Tkac I, Javorsky M, Klimcakova L, et al. A pharmacogenetic association between a variation in calpain 10 (CA PN10) gene and the response to metformin treatment in patients with type 2 diabetes. Eur J Clin Pharmacol 2015; 71(1): 59–63.
• Arslan E, Acik L, Gunaltili G, et al. The effect of calpain-10 gene polymorphism on the development of type 2 diabetes mellitus in a T urkish population. Endokrynol Pol 2014; 65(2): 90–95.
• Maleki F, Haghani K, Shokouhi S, et al. A case-control study on the association of common variants of CA PN10 gene and the risk of type 2 diabetes in an Iranian population. Clin Lab 2014; 60(4): 663–670.
• Panico P, Salazar AM, Burns AL, et al. Role of calpain-10 in the development of diabetes mellitus and its complications. Arch Med Res 2014; 45(2): 103–115.
• Huang M, Xiao J, Zhao X, et al. Four polymorphisms of the CA PN 10 gene and their relationship to polycystic ovary syndrome susceptibility: a meta-analysis. Clin Endocrinol (Oxf) 2012; 76(3): 431–438.
• Issat T, Nowicka MA, Jakimiuk AJ . Zespół policystycznych jajników (PCO S), a ryzyko występowania cukrzycy ciążowej(GDM). Ginekol Pol 2015; 86(5): 392–395.
• Vollmert C, Hahn S, Lamina C, et al. Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. Am J Physiol Endocrinol Metab 2007; 292(3): 836–844.
• Shilpi D, Pisapati VS, Kudugunti N, et al. Association of CA PN10 SNPs and haplotypes with polycystic ovary syndrome among South Indian women. PLoS ONE 2012; 7(2): e32192.
• Ha L, Shi Y, Zhao J, et al. Association study between polycystic ovarian syndrome and the susceptibility genes polymorphisms in Hui Chinese women. PLoS ONE 2015; 10(5): e0126505.
• Bagheri M, Abdi-Rad I, Hosseini-Jazani N, et al. An Association study between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs in women with polycystic ovary syndrome from West Azerbaijan Province, Iran. J Reprod Infertil 2015;16(2): 109–112.
• Tumu VR, Govatati S, Guruvaiah P, et al. An interleukin-6 gene promoter polymorphism is associated with polycystic ovary syndrome in South Indian women. J Assist Reprod Genet 2013; 30(12): 1541–1546.
• Radavelli-Bagatini S, de Oliveira IO, Ramos RB, et al. Haplotype TGTG from SNP 45T/G and 276G/T of the adiponectin gene contributes to risk of polycystic ovary syndrome. J Endocrinol Invest 2013; 36(7): 497–502.
• Zhang W, Wei D, Sun X, et al. Family-based analysis of adiponectin gene polymorphisms in Chinese Han polycystic ovary syndrome. Fertil Steril 2014; 101(5): 1419–1423.
• Yang Z, Yang X, Xu J, et al. Association between adiponectin receptor 1 gene polymorphism and insulin resistance in Chinese patients with polycystic ovary syndrome. Gynecol Obstet Incest 2014; 77(1): 45–49.
• Baba T, Endo T, Sata F, et al. The contributions of resistin and adiponectin gene single nucleotide polymorphisms to the genetic risk for polycystic ovary syndrome in a J apanese population. Gynecol Endocrinol 2009; 25(8): 498–503