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目的探讨汉族老年人糖尿病与瘦素受体基因rs1137100和rs1137101多态性位点(SNP)的相关性。方法采用Taqman方法检测241例汉族老年人糖尿病患者和270例汉族健康老年人的瘦素受体基因rs1137100和rs1137101基因型及等位基因频率分布状况,分析各SNP位点基因型与糖尿病的相关性,同时测定所有研究对象的血脂、血糖、血浆瘦素和胰岛素水平。结果 rs1137100位点GG、GA和AA基因型在糖尿病组和正常对照组之间的分布频率分别为73.0%、24.5%、2.5%和68.9%、28.9%和2.2%,两组之间差异无统计学意义(χ~2=1.27,P=0.53);A等位基因在两组间的分布频率分别是14.7%和16.7%,两组之间差异无统计学意义(χ~2=0.72,P=0.40)。rs1137101位点上GG、GA和AA基因型在糖尿病组和正常对照组之间的分布频率分别为77.6%、21.2%、1.2%和77.8%、21.1%、1.1%,两组之间差异无统计学意义(χ~2=0.02,P=0.99);A等位基因在两组间的分布频率分别是11.8%和11.7%,两组之间差异无统计学意义(χ~2=0.01,P=0.94)。Logistic回归分析结果表明,与GG型研究对象相比,rs1137100位点GA型、AA型研究对象发生糖尿病的风险相似,OR值分别为1.06(95%CI 0.34~3.34)和0.80(95%CI 0.54~1.19);在rs1137101位点上,与GG型研究对象相比,GA型、AA型研究对象发生糖尿病的风险相似,OR值分别为1.12(95%CI 0.22~5.63)和1.01(95%CI 0.66~1.54)。结论瘦素受体基因rs1137100和rs1137101位点的变异与汉族老年人糖尿病没有明显的相关性。
Objective To investigate the association of diabetes mellitus with the polymorphisms of rs1137100 and rs1137101 polymorphisms in the elderly Han population. Methods Taqman method was used to detect the genotype and allele frequencies of rs1137100 and rs1137101 alleles in 241 elderly Han diabetics and 270 Han healthy seniors. The genotype and allele frequencies of each SNP locus were analyzed. All subjects were also tested for lipids, blood glucose, plasma leptin and insulin levels. Results The distribution frequencies of GG, GA and AA genotypes at rs1137100 were 73.0%, 24.5%, 2.5% and 68.9%, 28.9% and 2.2% respectively between the diabetic group and the normal control group, with no statistical difference between the two groups (Χ ~ 2 = 1.27, P = 0.53). The frequencies of allele A in the two groups were 14.7% and 16.7%, respectively. There was no significant difference between the two groups (χ ~ 2 = 0.72, P = 0.40). The distribution frequencies of GG, GA and AA genotypes at rs1137101 were 77.6%, 21.2%, 1.2% and 77.8%, 21.1% and 1.1% respectively between the diabetic group and the normal control group. There was no statistical difference between the two groups (Χ ~ 2 = 0.02, P = 0.99). The distribution frequency of allele A was 11.8% and 11.7% respectively in the two groups, with no significant difference between the two groups (χ ~ 2 = 0.01, P = 0.94). Logistic regression analysis showed that compared with subjects with GG type, the risk of developing diabetes was similar in subjects with type GA and type AA at rs1137100 (OR = 1.06 (95% CI 0.34-3.34) and 0.80 (95% CI 0.54 ~ 1.19). At rs1137101, the risk of developing type 2 diabetes mellitus was similar in subjects with type GG compared with those with type GG, with odds ratios of 1.12 (95% CI 0.22-5.63) and 1.01 (95% CI 0.66 ~ 1.54). Conclusion The mutation of rs1137100 and rs1137101 of leptin receptor gene is not significantly associated with diabetes in Han Chinese elderly.