【摘要】 目的 探讨水通道蛋白7(AQP7)基因多态性及单倍型与肥胖的相关性。 方法 将1559例流调人群按腰围分为肥胖组和非肥胖组(对照组)。应用PCR及直接基因测序方法对AQP7基因SNP-1123和SNP-953位点进行基因分型，并构建单倍型。 结果 (1)肥胖组和对照组SNP-1123和SNP-953基因型频率差异无统计学意义，而-1123C/T等位基因频率差异有统计学意义(P<0.05)。进行性别分层后女性-1123CC型与-1123XT(CT+TT)型比较，发生肥胖风险增加(P<0.01，OR=1.48，95%CI：1.12~1.97);(2)两组中女性SNP-1123T-SNP-953A单倍型肥胖风险减少(P<0.01，OR=0.71，95%CI：0.56~0.92)。 结论 女性中，AQP7基因SNP-1123CC型可能增加患肥胖风险;女性SNP-1123T-SNP-953A单倍型可能减少患肥胖风险。

　　【关键词】水通道蛋白7;单核甘酸多态性;肥胖

　　Association of single nucleotide polymorphism and haplotypes of aquaporin 7 gene with obesity CHENG Na, YUAN Zhen-fang, GUO Xiao-hui, et al. Department of Endocrinology, Peking University First Hospital, Beijing 100034, China

　　Corresponding author: YUAN Zhen-fang, E-mail: zhenfang_yuan@yahoo.com.cn

　　【Abstract】 Objective To investigate the association of single nucleotide polymorphism (SNP) and haplotypes in aquaporin 7 gene with obesity. Methods The study included 1559 subjects from epidemiological investigation. The subjects were divided into two groups, obesity group and control group, according to their waistlines. By using polymerase chain reaction (PCR) and direct sequencing, the genotypes of SNP-1123 and SNP-953 in AQP7 gene were determined and their haplotypes were constructed. Then, the association of the two SNPs with obesity was analyzed. Results (1) The genotypic frequencies of SNP-1123 and SNP-953 between the two groups were not statistically different, while the allelic frequencies of SNP-1123C/T between them were statistically different (P<0.05). Gender stratification analysis indicated that the SNP-1123CC compared with SNP-1123XT (CT+TT) in female subjects had increased risks for obesity (P<0.01, OR=1.48, 95%CI: 1.12~1.97). (2) In female subjects of the two groups, the haploype SNP-1123T-SNP-953A had lower risks for obesity (P<0.01, OR=0.71, 95%CI: 0.56~0.92). Conclusions The genotype SNP-1123CC of AQP7 gene in females is associated with increased risks for obesity, and the haplotype SNP-1123T-SNP-953A associated with lower risks for obesity.

　　【Key words】 Aquaporin 7 gene; Single nucleotide polymorphism; Obesity