中文摘要：

目的：研究PRDM16基因多态性及其单倍体型与超重肥胖发生风险的关系。方法：采用snapshot或连接酶检测技术检测275例超重肥胖者与253例正常体重者PRDM16基因rs2651899、rs2236518、rs2282198位点的基因型。利用SHEsis在线软件构建单倍体型，分析其与超重肥胖的关系。结果：PRDM16基因rs2651899位点等位基因A在超重肥胖组和正常体重组的分布差异有统计学意义[OR（95％CI）=1．306（1．021～1．670），P=0．033]。单倍体型AAT、GAC、GCT在超重肥胖组和正常体重组的分布差异有统计学意义[AAT：OR（95％CI）=1．554（1．118—2．162），P=0．008；GAC：OR（95％CI）=0．623（0．394—0．984），P=0．041；GCT：OR（95％CI）=0．682（0．481—0．967），P=0．031]。结论：PRDM16基因rs2651899位点的等位基因A以及单倍体型AAT可能是超重肥胖发生的危险因素，单倍体型GAC、GCT可能是超重肥胖发生的保护因素。

英文摘要：

Aim： To evaluate whether PRDM16 gene polymorphism or its haplotypes might be associated with overweight or obesity. Methods： The polymorphisms of rs2651899,rs2236518,and rs2282198 in PRDM16 gene in 275 overweight or obese individuals and 253 normal controls were genotyped by the method of snapshot or ligase detection reaction.The construction and comparison of haplotypes were carried out by SHEsis online. Results： The frequency of allele A in rs2651899 locus was significantly higher in overweight or obesity group compared with that in control group [OR（ 95% CI） = 1. 306（ 1. 021- 1. 670）,P = 0. 033]. Haplotype analysis showed significant differences in the frequency of haplotype AAT,GAC,and GCT between the two groups[AAT： OR（ 95% CI） = 1. 554（ 1. 118- 2. 162）,P = 0. 008; GAC：OR（ 95% CI） = 0. 623（ 0. 394- 0. 984）,P = 0. 041; GCT： OR（ 95% CI） = 0. 682（ 0. 481- 0. 967）,P = 0. 031]. Conclusion： Allele A of rs2651899 is associated with susceptibility to overweight and obesity. Haplotype GAC and GCT may be protective factors to overweight and obesity,and AAT may be a risk factor to overweight and obesity.