ABSTRACT
Objective To explore the relationship between the variation of leptin receptor (LR) gene and type 2 diabetes mellitus (DM), obesity and plasma lipid levels. Methods The variation of LR gene exon 20 was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) and their relations to type 2 DM and obesity were analyzed. Results The variant frequency at 3 057 nucleotide of G to A transversion was 82.09% for total, 87.33% for DM group, 75.42% for control group. The frequency of AA genotype in DM cases was higher than that in controls, but that of GA genotype was lower, and that of GG in cases did not indicate. According to BMI and WHR level, there was no obvious relationship between gene variations and obesity. There were significant differences between AA genotype and GA genotype about the serum levels of TG, HDL and SBP, DBP. Conclusion At nucleotide 3 057 in LR exon 20, a G to A transversion was found, which may be the susceptibility marker of DM in Chongqing population. An allele was associated with high blood lipid and increased blood pressure.