title: Correlation of the -3826A >G polymorphism in the promoter of the uncoupling protein 1 gene with obesity and metabolic disorders in obese families from southern Poland.
abstract: The aim of the study was to examine the allelic frequency of the -3826A > G mutation of UPC1 in patients with familiar obesity and to investigate putative association of this polymorphism with metabolic disorders. One hundred and eighteen overweight /obese patients participated in the study. The UCP1 polymorphism was determined by RFLP. Glucose, lipid, insulin and leptin levels were measured both during OGTT and OLTT. The majority of patients had a homozygous A/A genotype (51,38%), while 14,68% had a G/G genotype. We found no significant association of the G allele with either BMI or glucose tolerance. Patients with the homozygous G/G genotype had significantly higher fasting levels of TG (p < 0.04) and decreased levels of HDL-cholesterol (p = 0,004). They also had an increased concentration of FFA and the rise of TG levels during the OLTT compared to controls was significant (p = 0,058). In addition, the carriers of the G/G genotype had the lowest insulin levels both during OGTT and OLTT. In our study we have demonstrated that the -3826A > G polymorphism of UCP1 does not play a major role in the development of obesity and/or disturbances of glucose metabolism. However, the increased levels of TG and FFA and decreased levels of HDL observed in carriers of the G allele suggest FFA-induced impairment of the HDL turnover and disturbance of the beta-cell function, both of which are risk factors for endothelial injury.
authors.affiliation: Department of Clinical Biochemistry, Medical College, Jagiellonian University, Out-patient Clinic of Obesity and Lipid Disorders, Kraków, Poland. mbkiec@cyf-kr.edu.pl
authors.forename: B
authors.initials: B
authors.lastname: Kieć-Wilk
authors.forename: I
authors.initials: I
authors.lastname: Wybrańska
authors.forename: M
authors.initials: M
authors.lastname: Malczewska-Malec
authors.forename: L
authors.initials: L
authors.lastname: Leszczyńska-Gołabek
authors.forename: L
authors.initials: L
authors.lastname: Partyka
authors.forename: S
authors.initials: S
authors.lastname: Niedbał
authors.forename: A
authors.initials: A
authors.lastname: Jabrocka
authors.forename: A
authors.initials: A
authors.lastname: Dembińska-Kieć
mesh_terms: D000328:Adult; D015992:Body Mass Index; D002352:Carrier Proteins / Q000235:genetics*; D004730:Endothelium, Vascular / Q000503:physiopathology; D005260:Female; D005951:Glucose Tolerance Test; D006801:Humans; D007328:Insulin / Q000502:physiology; D007473:Ion Channels; D008055:Lipids / Q000097:blood; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008659:Metabolic Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008875:Middle Aged; D024101:Mitochondrial Proteins; D009765:Obesity / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D015539:Platelet Activation; D011044:Poland; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D000071256:Uncoupling Protein 1
chemical_list: D002352:Carrier Proteins; D007328:Insulin; D007473:Ion Channels; D008055:Lipids; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C000604371:UCP1 protein, human; D000071256:Uncoupling Protein 1