C2549A polymorphism of promoter of the leptin gene i n pedigrees of type 2 diabetes mellitus / 中华内分泌代谢杂志

ABSTRACT

Objective To ev al uate the genotype distribution of the promoter of leptin gene in Chinese populat ion, and to verify its association with the plasma leptin level and anthropometr ic, metabolic and clinical parameters in type 2 diabetic patients and their non -diabetic first degree relatives. Methods Two hundred and sixty-nine patients with diabetes and 135 non-diabetic first degre e relatives in pedigrees of type 2 diabetes mellitus, and 85 normal controls wer e screened for presence of the polymorphism by PCR-RFLP assay, and body mass in dex (BMI), fasting plasma leptin, insulin, and glucose were measured and HOMA-I R determined. Results (1) In type 2 diabetes gr oup, AA genotype frequency (0.063) and A allele frequency (0.349) were higher th an those in normal controls (0.012 and 0.253, respectively). (2) Diabetic patien ts with AA or AC genotypes showed lower fasting leptin than those with CC genoty pe (P