Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians
| Autor: | Vollmert, Caren, Hahn, Susanne, Lamina, Claudia, Huth, Cornelia, Kolz, Melanie, Schöpfer-Wendels, Andreas, Mann, Klaus, Bongardt, Friedhelm, Mueller, Jakob C., Kronenberg, Florian, Wichmann, Heinz-Erich, Herder, Christian, Holle, Rolf, Löwel, Hannelore, Illig, Thomas, Janssen, Onno E., Meisinger, Christa, Illig, T., Löwel, H., Holle, R., John, J. |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Adult
medicine.medical_specialty Genotype endocrine system diseases Physiology Endocrinology Diabetes and Metabolism Single-nucleotide polymorphism Type 2 diabetes Polymorphism Single Nucleotide Linkage Disequilibrium White People Gene Frequency Polymorphism (computer science) Physiology (medical) Internal medicine medicine Humans Gene Genetics biology Calpain Haplotype nutritional and metabolic diseases medicine.disease Polycystic ovary Endocrinology Haplotypes Case-Control Studies biology.protein Female Metabolic syndrome single nucleotide polymorphism genetic association study metabolic syndrome type 2 diabetes mellitus Polycystic Ovary Syndrome |
| Zdroj: | Am. J. Physiol. Endocrinol. Metab. 292, E836-E844 (2007) |
| Popis: | PCOS is known to be associated with an increased risk of T2DM and has been proposed to share a common genetic background with T2DM. Recent studies suggest that the Calpain-10 gene (CAPN10) is an interesting candidate gene for PCOS susceptibility. However, contradictory results were reported concerning the contribution of certain CAPN10 variants, especially of UCSNP-44, to genetic predisposition to T2DM, hirsutism, and PCOS. By means of MALDI-TOF MS technique, we genotyped an expanded single nucleotide polymorphism panel, including the CAPN10 UCSNP-44, -43, -56, ins/del-19, -110, -58, -63, and -22 in a sample of 146 German PCOS women and 606 population-based controls. Statistical analysis revealed an association between UCSNP-56 and susceptibility to PCOS with an odds ratio (OR) of 2.91 (95% CI = 1.51–5.61) for women carrying an AA genotype compared with GG. As expected, the 22-genotype of the ins/del-19 variant, which is in high linkage disequilibrium ( r2= 0.98) with UCSNP-56, was also significantly associated (OR = 2.98, 95% CI = 1.55–5.73). None of the additionally tested variants alone showed any significant association with PCOS. A meta-analysis including our study (altogether 623 PCOS cases and 1,224 controls) also showed significant association only with ins/del-19. The most common haplotype TGG3AGCA was significantly associated with a lower risk for PCOS (OR = 0.487, P = 0.0057). In contrast, the TGA2AGCA haplotype was associated with an increased risk for PCOS (OR = 3.557, P = 0.0011). By investigating a broad panel of CAPN10 variants, our results pointed to an allele dose-dependent association of UCSNP-56 and ins/del-19 with PCOS. |
| Databáze: | OpenAIRE |
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