title: Metabolic and hormonal consequencies of the "obesity risk" MC4R variant (rs12970134) in Czech women.
abstract: Although the mutations in MC4R gene became known as the most common genetic cause of human obesity, the effect of rs12970134 A/G near MC4R gene on insulin resistance has been described. The aim of this study was to determine the effect of rs12970134 on obesity, hormone levels, and glucose metabolism in a cohort of women varying in glucose tolerance: 850 normoglycemic women, 423 diagnosed with polycystic ovary syndrome (PCOS), 402 gestational diabetics (GDM), and 250 type 2 diabetic (T2D) women. We did not confirm the explicit effect of rs12970134 on obesity. However, the influence of the A-allele on body adiposity index was observed in a cohort of women diagnosed with PCOS. In normoglycemic women, the A-allele carriership was associated with lower fasting levels of glucose, insulin, C-peptide, and index of insulin resistance. Furthermore, higher levels of growth hormone, leptin and SHBG, and lower levels of fT3, testosterone, and androstenedione were recorded in normoglycemic A-allele carriers. In conclusion, the study presents the evidence of the impact of rs12970134 on complex hypothalamic regulations.
authors.affiliation: Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic. obradnova@endo.cz.
authors.forename: O
authors.initials: O
authors.lastname: Bradnová
authors.forename: D
authors.initials: D
authors.lastname: Vejražková
authors.forename: M
authors.initials: M
authors.lastname: Vaňková
authors.forename: P
authors.initials: P
authors.lastname: Lukášová
authors.forename: J
authors.initials: J
authors.lastname: Včelák
authors.forename: S
authors.initials: S
authors.lastname: Stanická
authors.forename: K
authors.initials: K
authors.lastname: Dvořáková
authors.forename: B
authors.initials: B
authors.lastname: Bendlová
mesh_terms: D000328:Adult; D015331:Cohort Studies; D018153:Czech Republic / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009765:Obesity / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics*; D012307:Risk Factors
chemical_list: C470072:MC4R protein, human; D044105:Receptor, Melanocortin, Type 4