LEPR K109R gene polymorphism and its association with OSA in North Indian subjects

Background: Obesity is an established risk factor for Obstructive Sleep Apnea (OSA).Numerous studies had been reported association of LEPR K109R gene Polymorphism with obesity and related phenotype. Leptin, an adipocyte derived hormone, controls energy homeostasis and body weight. Purpose: The Aim of this study was to study the effect of Leptin Receptor (LEPR) gene polymorphism K109R at exon 4 on OSA phenotype in overweight and obese North Indian subjects. Methods: LEPR K109R Genotyping and Leptin level estimations were done in 285 subjects. All subjects went through overnight Polysomnography study, Anthropometrical (Body Mass index (BMI), Neck Circumference (NC), Waist Circumference (WC), Hip Circumference (HC) and Waist Hip Ratio (WHR)) and biochemical investigations (Leptin level, Lipid profile and Fasting Plasma Glucose level). Biochemical investigations were done with fasting blood samples of Subjects. Genomic DNA was isolated from blood of subjects with column based commercial kit. Genetic analysis was performed at LEPR 109 position by PCR-RFLP method using Hae III. Results: No association was observed in genotype distribution of subjects according to Occurrence and disease severity in LEPR K109R gene polymorphism. BMI, NC, WC, HC and WHR were not associated with LEPR K109R gene polymorphism. Fasting Lipid profile, Leptin levels and Plasma Glucose levels were also not associated with LEPR K109R gene polymorphism. Conclusions: These findings suggest that LEPR K109R gene Polymorphism is not associated with OSA occurrence, severity, metabolic and biochemical phenotype in overweight and obese Indian population.