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【目的】观察瘦素基因变异[codn25(CAA/CAG)、G鄄2548A]与中国人肥胖及其临床表型的关系。【方法】用PCR鄄RFLP方法,对271例中国南方汉族人,其中正常组66例、Ⅰ度肥胖组153例和Ⅱ度肥胖组52例,进行瘦素基因2个变异的基因型分析。【结果】①在女性Ⅱ度肥胖亚组中的Codn25CAA/CAG基因型及CAG等位基因频率明显高于正常组(P<0.05);②肥胖患者中腰围的变化在G鄄2548A不同的基因型中有明显差异(F=6.259,P=0.015),A/A纯合子组的腰围显著低于A/G、G/G基因型组;③在不同的基因型分组中,两个基因变异对临床表型的影响相互间没有协同性。【结论】①瘦素基因Codn25(CAA/CAG)基因型与女性II度肥胖者密切相关,提示该基因变异对肥胖易感性的影响存在着肥胖度及性别的差异;②瘦素基因G鄄2548A的变异则与肥胖人群的腹部脂肪分布相关;③两个瘦素基因变异之间对肥胖的临床影响没有明显的协同效应。
【Objective】 To observe the relationship between leptin gene mutation [codn25 (CAA / CAG), G-2548A] and Chinese obesity and its clinical phenotype. 【Methods】 PCR-RFLP was used to analyze the genotypes of two mutations in leptin gene in 271 Han Chinese in southern China, including 66 normal subjects, 153 normal subjects, 153 acute pancreatitis patients and 52 moderate obesity patients. 【Results】 ① The frequencies of Codn25CAA / CAG genotypes and CAG alleles in women with grade Ⅱ obesity subgroup were significantly higher than those in normal subjects (P <0.05). ② The changes of waist circumference in obese patients were in different genotypes of G-2548A (F = 6.259, P = 0.015). The waist circumference of the A / A homozygous group was significantly lower than that of the A / G and G / G genotype groups. (3) In different genotype groups, The effects of clinical phenotypes are not synergistic with each other. 【Conclusion】 (1) Leptin gene Codn25 (CAA / CAG) genotype is closely related to female II degree obesity, suggesting that the gene mutation has obesity and sex differences in the susceptibility to obesity. ② Leptin gene G-2548A Is associated with the distribution of abdominal fat in obese people; (3) the clinical effect of the two leptin variants on obesity has no significant synergistic effect.