SHORT COMMUNICATION
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
 
 
Corresponding author
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
 
KEYWORDS
ABSTRACT
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.
 
REFERENCES (9)
1.
Groop L, Pociot F. Genetics of diabetes—are we missing the genes or the disease? Mol Cell Endocrinol. 2014; 382(1): 726–39.
 
2.
Stoffel M, Duncan SA. The Maturity-Onset Diabetes of the Young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci USA. 1997; 94: 13209–14.
 
3.
Sato Y, Hatta M, Karim MF, Sawa T, Wei FY, Sato S, et al. Anks4b, a novel target of HNF4α protein, interacts with GRP78 protein and regulates endoplasmic reticulum stress-induced apoptosis in pancreatic β-cells. J Biol Chem. 2012; 287(27): 23236–45.
 
4.
Holmkvist J, Almgren P, Lyssenko V, Lindgren CM, Eriksson KF, Isomaa B, et al. Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes. Diabetes. 2008; 57(6): 1738–44.
 
5.
Ek J, Rose CS, Jensen D, Glümer C, Borch-Johnsen K, Jørgensen, et al. The functional Thr130Ile and Val255Met polymorphisms of the hepatocyte nuclear factor – 4 alpha (HNF-4A): gene associations with type 2 diabetes or altered beta-cell function among Danes. J Clin Endocrinol Metab. 2005; 90(5): 3054–59.
 
6.
Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, et al. A Role for Coding Functional Variants in HNF4a in Type 2 Diabetes Susceptibility. Diabetologia. 2011; 54: 111–119.
 
7.
Sookoian S, Gemma C, Pirola CJ. Influence of Hepatocyte Nuclear Factor 4alpha (HNF4alpha) Gene Variants on the Risk of Type 2 Diabetes: A Meta-Analysis in 49,577 Individuals. Mol Genet Metab. 2010; 99: 80–89.
 
8.
Hellwege JN, Hicks PJ, Palmer ND, Ng MC, Freedman BI, Bowden DW. Examination of Rare Variants in HNF4 α in European Americans with Type 2 Diabetes. J Diabetes Metab. 2011; 2(145).
 
9.
Prudente S, Dallapiccola B, Pellegrini F, Doria A, Trischitta V. Genetic prediction of common diseases. Still no help for the clinical diabetologist! Nutr Metab Cardiovasc Dis. 2012; 22(11): 929–36.
 
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ISSN:1898-2395
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