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Abstract: Leptin receptor (LEPR) plays an important physiological role in energy metabolism. The study addressed the relationship between leptin receptor gene variations and type 2 diabetes mellitus (T2DM). Three single nucleotide polymorphisms (SNPs) of LEPR gene, Arg109Lys (A/G), Asn656Lys (C/G) and Pro1019Pro (C/T) were detected in a northern population in China. Totally, 317 patients with T2DM and 282 healthy controls were recruited randomly from urban communities in Harbin area in the Northeast of China. All polymorphisms were genotyped by Sequenom SNP detection system in both case and control groups. Linkage disequilibria analysis showed moderate linkage disequilibria between the pair-wise SNPs for all three SNPs. Then, we identified the haplotype covering the three SNPs (AGC) with higher risk of T2DM (OR=1.69 (1.09–2.61)), and showed that there existed significant difference between cases and controls (9.8% vs. 6.0%, P =0.02). We also observed significant difference in frequencies of the heterozygous haplotype combination (GGT/AGC), that is 17.0% vs. 8.2% in cases and controls, respectively (P =0.001). It further supported the evidence that the haplotype (AGC) was associated with T2DM. So, AGC haplotype in LEPR gene could be a risk factor associated with T2DM in Northern Chinese. [Copyright &y& Elsevier]

Summary: To determine the effect of variants in LEPR gene on obesity in northern Chinese, three coding polymorphisms Arg109Lys (A/G), Asn656Lys (C/G) and Pro1019Pro (C/T) were investigated for association with overweight and obesity. By a case control design, 248 overweight or obese subjects and 351 lean normal controls were recruited in Harbin region in north China. All three polymorphisms were genotyped by Sequenom single nucleotide polymorphism (SNP) detection system in both cases and controls. Genotypes for all three polymorphisms were in Hardy–Weinberg equilibrium in control subjects. Both groups had similar distribution of alleles and genotypes created by the three coding polymorphisms of LEPR gene. No differences in frequencies of genotypes or alleles between cases and controls for any polymorphism individually were found by χ2 analysis (p =0.444, p =0.507 and p =0.662, respectively). Further, when the haplotypes of three polymorphisms were assessed, no association for any haplotype of three polymorphisms was revealed. In the present study, the three coding polymorphisms in LEPR gene were firstly investigated in a population of northern Chinese. It was suggested that the three coding polymorphisms in LEPR gene were unlikely to have major effects on susceptibility to obesity in northern Chinese. [Copyright &y& Elsevier]