Abstract

Leptin is an adipocyte-specific hormone that regulates body weight. Leptin receptor (LEPR) is a receptor for leptin and plays a crucial role in the regulation of fat metabolism. To test the relationship between LEPR polymorphisms and dyslipidemia, hypertension, and obesity in Korean population, we analyzed 263 subjects. Three missense single nucleotide polymorphisms (SNPs) (rs1137100, Lys109Arg, K109R; rs1137101, Gln223Arg, Q223R; rs8179183, Lys656Asn, K656N) in the coding region of the LEPR gene were selected and genotyped by direct sequencing. SNPStats, SNPAnalyzer Pro, and HelixTree programs were performed to obtain odds ratio (OR), 95% confidence interval (CI), and p value. Haploview version 4.2 was used to determine the linkage disequilibrium (LD) block and haplotypes among three SNPs. Multiple logistic regression models were conducted to analyze of genetic data. Two missense SNPs were associated with the HDL-cholesterol levels (rs1137101, p=0.024 in codominant1 model, p=0.039 in dominant model, p=0.011 in overdominant model; rs8179183, p=0.028 in dominant model, p=0.035 in overdominant model, p=0.026 in log-additive model, p=0.042 in allele frequencies). Two missense SNPs were also associated with hypertension (rs1137100, p=0.044 in allele frequencies; rs1137101, p=0.010 in codominant1 model, p=0.012 in dominant model, p=0.013 in overdominant model, p=0.019 in log-additive model, p=0.014 in allele frequencies). One missense SNP was related to the development of overweight/obese (rs1137101, p=0.027 in codominant1 model, p=0.015 in dominant model, p=0.029 in overdominant model, p=0.013 in log-additive model, p=0.014 in allele frequencies). These results suggest that LEPR polymorphisms may be associated with hypercholesterolemia, hypertension, and obesity in Korean population. (Korean J Str Res 2011;19:155∼163)

• Keywords: Hypercholesterolemia, Hypertension, Leptin receptor, Obesity, Single nucleotide polymorphism;