UCP1基因单核苷酸多态性位点与成人超重肥胖的关系

目的 研究解偶联蛋白1（uncoupling protein 1，UCP1）基因SNPs位点与超重肥胖的关系。方法 采用连接酶检测技术对SNPs进行基因分型，检测275例超重肥胖者与253例正常体重者UCP1基因4个SNP位点的基因型，利用SNP Stats在线软件构建单倍体型，并分析单倍体型与性别及非遗传因素的交互作用。结果 两组间体重、体质指数、总胆固醇、甘油三酯、高密度脂蛋白、低密度脂蛋白差异有统计学意义（均有P<0.05）；隐性遗传模式下，rs1800592位点基因型（AA+AG）与GG在两组间差异有统计学意义（P=0.048，OR=1.154，95% CI:1.002~2.286））；与单倍体型CTAA相比，CTCA、CTAG、TACG在两组间分布差异有统计学意义（CTCA:P=0.043，OR=0.658，95% CI:0.439~0.988；CTAG:P=0.043，OR=0.658，95% CI:0.439~0.988；TACG:P=0.004，OR=0.449，95% CI:0.257~0.786）；单倍体型与血清总胆固醇之间存在交互作用（χ2=15.955，P=0.014）；与血清总胆固醇正常组单倍体型CTAA相比，在血清总胆固醇异常组，单倍体型CTAA、CTCG、CTCA、CTAG在两组间的分布差异有统计学意义（CTAA:P<0.001，OR= 2.731，95% CI:1.550~4.752；CTCG:P<0.001，OR=9.768，95% CI:3.403~28.042；CTCA:P=0.037，OR=2.713，95% CI:1.082~7.159；CTAG:P=0.037，OR=2.713，95% CI:1.028~7.159）。结论 隐性遗传模式下，基因型（AA+AG）可能是超重肥胖的危险因素；单倍体型CTCG、CTCA、TACG可能是超重肥胖的保护因素；血清总胆固醇异常时，单倍体型CTAA、CTCG、CTCA、CTAG 可能是超重肥胖的危险因素。

The association of UCP1 gene single nucleotide polymorphisms with overweight or obesity among adults

Objective To evaluate the association of UCP1 gene single nucleotide polymorphisms with overweight or obesity. Methods The single nucleotide polymorphisms of UCP1 gene in 275 overweight or obese individuals and 253 normal controls were genotyped by the method of ligase detection reaction. The construction of haplotypes and their interaction analysis with relevant factors were carried out by SNPStats online. Results The weight, body mass index, total cholesterol, triglycerides, high density lipoprotein, low density lipoprotein showed significant differences between the two groups (all P<0.05). In the recessive genetic model, subjects with genotypes (AA+AG) and GG of rs1800592 showed significant differences between overweight or obesity group and control group (P=0.048, OR = 1.154，95% CI:1.002-2.286). Haplotype analysis showed significant differences in frequency of haplotypes CTCA,CTAG,TACG between two groups (CTCA:P=0.043，OR=0.658，95% CI:0.439-0.988; CTAG:P=0.043，OR=0.658，95% CI:0.439-0.988; TACG:P=0.004，OR=0.449，95% CI:0.257-0.786). There was an interaction between haplotypes and total cholesterol (χ2=15.955，P=0.014). In the abnormal group of total cholesterol, it showed significant differences in the frequency of haplotypes CTAA, CTCG, CTCA and CTAG between two groups comparing with CTAA, in the normal group of TC (CTAA: P<0.001,OR= 2.731，95% CI:1.550-4.752; CTCG: P<0.001, OR=9.768，95% CI:3.403-28.042; CTCA: P=0.037, OR=2.713，95% CI:1.028-7.159; CTAG: P=0.037, OR = 2.713，95% CI:1.028-7.159). Conclusions In the recessive genetic mode, the genotype (AA+AG) may be a risk factor of overweight and obesity. The haplotypes CTCG, CTCA, TACG may be protective factors of overweight and obesity. When the total cholesterol is abnormal, the haplotypes CTAA, CTCG, CTCA or CTAG, may be risk factors of overweight and obesity.