title: KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patients.
abstract: In this work, we studied the association of the E23K polymorphism of the Kir6.2 ATP-sensitive potassium channels in 212 Czech patients with diabetes mellitus who were diagnosed after the age of 35. Patients were classified into T1DM, LADA and T2DM groups based on C-peptide and GADA levels. Carriers of the predisposing Kir6.2 E23K K allele showed no increased risk of either type of diabetes mellitus development. On the other hand, we found a correlation between E23K SNP of the KCNJ11 gene and C-peptide levels, which may be considered a measure of pancreatic beta-cell activity, although this correlation was not statistically significant. In conclusion, we failed to confirm the Kir6.2 E23K as a genetic marker for T1DM, LADA and T2DM in the Central Bohemian population of the Czech Republic.
authors.affiliation: Department of Cell and Molecular Biology, Charles University in Prague, 3rd Faculty of Medicine, Prague, Czech Republic. pavlina.cejkova@lf3.cuni.cz
authors.forename: P
authors.initials: P
authors.lastname: Cejková
authors.forename: P
authors.initials: P
authors.lastname: Novota
authors.forename: M
authors.initials: M
authors.lastname: Cerná
authors.forename: K
authors.initials: K
authors.lastname: Kolostová
authors.forename: D
authors.initials: D
authors.lastname: Nováková
authors.forename: P
authors.initials: P
authors.lastname: Kucera
authors.forename: J
authors.initials: J
authors.lastname: Novák
authors.forename: M
authors.initials: M
authors.lastname: Andel
authors.forename: P
authors.initials: P
authors.lastname: Weber
authors.forename: E
authors.initials: E
authors.lastname: Zdárský
mesh_terms: D000328:Adult; D017668:Age of Onset; D002096:C-Peptide; D016022:Case-Control Studies; D018153:Czech Republic / Q000453:epidemiology; D003920:Diabetes Mellitus / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D018698:Glutamic Acid / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
chemical_list: D002096:C-Peptide; D018698:Glutamic Acid; D008239:Lysine; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel