Metabolic syndrome (MetS) corresponds with multiple risk factors. Many studies have indicated that MetS significantly increases the risk of cardiovascular diseases and type 2 diabetes (T2D). The prevalence of MetS was estimated to be one third of the general Mongolian population in 2015. The purpose of our study was to determine polymorphisms of the LEP (Leptin) and LEPR (Leptin receptor) genes that show susceptibility to MetS and to predict the genetic risk of MetS. We selected 160 cases with MetS and 144 with healthy controls. The G2548A polymorphism of the LEP gene and the A668G (Q223R) polymorphism of the LEPR gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results of the regression analysis showed that the 2548 amino acids (AA) of LEP gene carriers had increased incidences of MetS (OR = 3.23; p = 0.035), and the combined genotype AA/AA of LEP and LEPR gene polymorphisms was related to the development of MetS (OR = 3.73; p = 0.047). Patients with MetS who were 2548A allele carriers had an increased concentration of serum leptin (p = 0.011). Moreover, G2548A of LEP polymorphism was associated with elevated body mass index (BMI) and fasting blood glucose (FBG) in the case group. Our results confirm that the LEP G2548A loci is the independent risk factor of MetS.
Keywords: Lep; LepR; leptin; metabolic syndrome (MetS); single nucleotide polymorphism (SNP).