Role of LEPR A223G gene polymorphism on severity of obstructive sleep apnea

Background: Obesity is the most important risk factor of Obstructive Sleep Apnea (OSA). Leptin, an adipocyte derived hormone, regulates energy homeostasis and body weight. Leptin acts through leptin receptors (LEPR). LEPR A223G Gene polymorphism has been found to be associated with altered leptin levels, obesity as well as OSA in different populations. Aims and objectives: The aim of the study was to examine the LEPR A223G Gene polymorphism and its association with leptin levels, diseases severity (based on AHI per hour), metabolic phenotype (Lipid profile) and obesity related risk factors (Neck circumference (NC), Body Mass Index (BMI), and Waist Hip Ratio (WHR) in OSA. Methods: Study was carried out in 190 index overweight subjects (BMI>25kg/m2) in polysomnography unit of Department of Pulmonary Medicine, King George’s Medical University, UP, India. 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 carried out in LEPR 223 position by PCR-RFLP method using Msp I. Results: Obesity related risk factors were found to be associated with OSA severity (P=000). LEPR A223G Gene polymorphism was not found to be associated with leptin level, BMI, NC, WHR and severity of OSA in these Subjects. Conclusions: LEPR A223G Gene polymorphism plays no role in increasing the severity of OSA. There is a positive correlation in obesity related risk factors with the disease severity.