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Background: Leptin is a hormone that regulates homeostasis energy through the central– peripheral mechanism as well as regulates hunger and satiety. Leptin receptor is important in leptin signal transduction that is located mainly in the hypothalamus. The mutation in leptin receptor (LEPR) gene causes splicing abnormality that resulted in truncated receptor, aberrant signal transduction, leptin resistance, and obesity. This study aims to determine the association of LEPR gene polymorphisms, rs1137100 and rs1137101, on phenotype and leptin level between obese and control groups in Yogyakarta population.
Methods: We examined two polymorphisms of LEPR gene, rs1137100 (K109R) and rs1137101 (Q223R) in 110 subjects consisting of 55 obese and 55 healthy adult subjects as controls from Yogyakarta. A correlation study was done between body mass index (BMI), waist and hip circumference, waist to hip ratio (WHR), and leptin level with their genotypes. Statistical analysis was performed using t-test to show the significant difference between the groups. SNPs of LEPR gene for obese and control groups were compared using chi-square analysis.
Results: Body mass index, waist circumference and leptin level in obese group were significantly higher than those in the control group. The frequency of R103R homozygote in obese group was higher than in the control group, whereas Q223Q homozygote in obese group was lower than in the control group. Polymorphism of rs1137100 (K109R) and rs1137101 (Q223R) were associated with obesity and leptin level.
Conclusion: In Yogyakarta population, polymorphisms of rs1137100 (K109R) and rs1137101 (Q223R) LEPR gene are associated with obesity. Thus further study on another Indonesian ethnic population is required to investigate the variation in LEPR gene.