title: Leptin G-2548A and leptin receptor Q223R gene polymorphisms are not associated with obesity in Romanian subjects.
abstract: We aimed to investigate whether polymorphisms LEP G-2548A and LEPR Q223R in the human leptin (LEP), and leptin receptor (LEPR) genes are associated with obesity and metabolic traits in a sample of Romanian population. Two hundred and two subjects divided in obese (body mass index, BMI30 kg/m(2)), and non-obese were included in this study. The polymorphisms were genotyped using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis. The results showed no significant differences in LEP and LEPR genotype and allele frequencies between obese and non-obese subjects. Logistic regression analysis showed that LEP -2548GG genotype presented an increased risk of obesity (p=0.013, OR=1.003, 95% CI=1.000-1.007), after adjusting for age and gender. The association analysis with metabolic syndrome quantitative traits showed that homozygous for LEP -2548G allele had significantly higher leptin levels (17.2+/-6.6 ng/ml vs. 13.2+/-4.9 ng/ml, p=0.011), and carriers of R allele had higher levels of triglycerides (p=0.017) and glucose (p=0.040), and enhanced systolic (p=0.015) and diastolic blood pressure (p=0.026), after adjustment for age, gender, and BMI. These results indicate that LEP G-2548A and LEPR Q223R SNPs may not be considered as genetic risk factors for obesity in a sample of Romanian population. However, LEP -2548GG genotype appear to be important in regulating leptin levels, whereas the LEPR 223R allele might predispose healthy subjects to develop metabolic disturbances.
authors.affiliation: Department of Vascular Dysfunctions in Diabetes and Obesity, Institute of Cellular Biology and Pathology Nicolae Simionescu, Bucharest, Romania. alina.constantin@icbp.ro
authors.forename: Alina
authors.initials: A
authors.lastname: Constantin
authors.forename: Gabriela
authors.initials: G
authors.lastname: Costache
authors.forename: Anca V
authors.initials: AV
authors.lastname: Sima
authors.forename: Cristiana S
authors.initials: CS
authors.lastname: Glavce
authors.forename: Maria
authors.initials: M
authors.lastname: Vladica
authors.forename: Doina L
authors.initials: DL
authors.lastname: Popov
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D015992:Body Mass Index; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005973:Glutamine / Q000235:genetics; D006801:Humans; D020738:Leptin / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D054411:Receptors, Leptin / Q000235:genetics*; D012383:Romania; D044465:White People / Q000235:genetics
chemical_list: C515448:LEPR protein, human; D020738:Leptin; D054411:Receptors, Leptin; D005973:Glutamine; D001120:Arginine