Téma: Original Works

The relationship of candidate gene ppara and capn10 polymorphisms to the age at diagnosis of type 2 diabetes in slovakian population

Martina Dobríková, Martin Javorský, Lucia Klimčáková,Miriam Kozárová, Jana Halušková, Ján Šalagovič, Ivan Tkáč

Background/Aim: Type 2 diabetes mellitus (T2DM) candidate genes include PPARA, a gene for transcription factor associated with insulin sensitivity and CAPN10 gene, coding for calpain 10, a cystein protease with probable role in beta-cell apoptosis and insulin secretion. Some studies have reported association of the PPARA and CAPN10 single nucleotide polymorphisms with T2DM. Moreover, one study observed significantly lower age at onset in carriers of the PPARA risk haplotype. However, a replication study is missing and there is lack of data on the CAPN10 gene. Aim of this study was to determine frequencies of risk alleles and analyze relationship between polymorphisms of PPARA and CAPN10 genes and the age at onset of diabetes in the Slovakian population. Patients/Methods: 211 T2DM patients were genotyped for PPARA Leu162Val C/G and for CAPN10 SNP-43 G/A and SNP-44 T/C by PCR-RFLP. Anthropometric and biochemical examinations were performed by routine methods. Results: We did not find significant relationship between the risk alleles of the above-mentioned genes and the mean age at onset of type 2 diabetes although the mean age at T2DM onset of the subjects with the CAPN10 SNP-43 GGgenotype tended to be lower than in the carriers of the A allele (GA and AA). However, the observed difference of 1,4 years was not statistically significant. Similarly, we observed no significant differences in the age at diagnosis of T2DM across genotypes of CAPN10 SNP-44 or PPARA Leu162Val and, neither in the additive, nor in the recessive model. Conclusion: In this study we did not observe any relationship between candidate genes of T2DM (PPARA and CAPN10) and age at onset of diabetes. Association between the studied polymorphisms and development of T2DM was not confirmed by genome-wide association studies, either, probably because of relatively minute impact of these genes on the risk of diabetes.

Ročník 2010  Témy časopisu Internal medicine 1 / 2010

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