Lack of association between the development and clinical course of Type 1 and Type 2 Diabetes Mellitus and rare T130I variant of the HNF4A gene in the Polish population
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Department and Chair of Metabolic Diseases, Jagiellonian University, Krakow, Poland
Małgorzata Grzanka   

Department and Chair of Metabolic Diseases, Jagiellonian University, Krakow, Kopernika 15, 31-501 Krakow, Poland
J Pre Clin Clin Res. 2016;10(1):63–65
Type 2 diabetes (T2DM) is a multifactorial disease related to both environmental and genetic factors. While environmental factors leading to the development for T2DM are well established, the majority of factors responsible for the genetic background of the disease remain unknown. The aim of this study was to test whether a rare variant within the HNF4A gene, Thr130Ile (rs1800961), may influence the development of clinical course of T1DM or T2DM subjects. The analysis included 574 patients with T2DM, 207 T1DM individuals and 284 healthy controls. All subjects were genotyped for the Thr130Ile polymorphism in HNF4A. For T2DM, no differences were found in allele frequencies between cases and controls. The percentage of CT genotype in these groups were 5.7% (33 patients) and 5.6% (16 healthy controls), respectively (p=0.89). For T1DM, the allele frequency was not statistically different from T2DM or control subjects. In conclusion, no association was found between rare variant Thr130Ile of the HNF4A gene and the development of either T2DM nor T1DM in the Polish population.
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