李奕平 张瑛 宋滇平 杨莹 姚宇峰 杨曼 王晓苓 史荔 史磊 徐凡 王飞英 李显丽

　　基金项目：云南省教育厅科学研究基金(09C0296)

　　作者单位：650021昆明，云南省第二人民医院内分泌代谢科(李奕平、张瑛、杨莹、杨曼、王晓苓、徐凡、王飞英、李显丽);昆明医学院第一附属医院糖尿病科(宋滇平);中国医学科学院北京协和医学院医学生物学研究所(姚宇峰、史荔、史磊)

　　通讯作者：李显丽，E-mail: lypyyf@yahoo.com.cn.

　　【摘要】目的　　探讨脂联素基因多态性及其单倍型与2型糖尿病(T2DM)的相关性。 方法 入选T2DM患者202例，糖尿病家族史阴性的非糖尿病个体(NDM)143例。采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)方法对脂联素基因SNP-11391、SNP-11377、SNP-4522、SNP+45和SNP+331位点进行基因分型，并构建单倍型。评估以上5个多态性位点及构建的单倍型与T2DM的相关性。结果T2DM组和NDM组脂联素基因SNP-11391、SNP-11377、SNP-4522、SNP+45和SNP+331基因型和等位基因频率差异无统计学意义。T2DM组和NDM组SNP-11377C-SNP-4522T单倍型频率差异有统计学意义(P<0.05)。结论脂联素基因SNP-11377C-SNP-4522T单倍型与T2DM相关，且可能增加患T2DM风险(OR=1.60, 95%CI:1.09~2.35)。

　　【关键词】糖尿病，2型;脂联素基因;单核苷酸多态性;单倍型

　　doi:10.3969/j.issn.1006-6187.2011.02.005

　　Single nucleotide polymorphism haplotypes of adiponectin gene are associated with type 2 diabetes in Han population

　　LI Yi-ping, ZHANG Ying, SONG Dian-ping, et al. Department of Endocrinology and Metabolism, The Second People’s Hospital of Yunnan Province, Kunming 650021, China

　　Corresponding author: LI Xian-li, E-mail: lypyyf@yahoo.com.cn

　　【Abstract】Objective　　To investigate the association of single nucleotide polymorphism (SNP) haplotypes in adiponectin gene with type 2 diabetes mellitus (T2DM). Methods The study included 202 patients with T2DM and 143 nondiabetic(NDM) healthy subjects with no family history of diabetes. Using polymerase chain reaction-based restriction fragment-length polymorphism (PCR-RFLP), we genotyped the SNP-11391, SNP-11377, SNP-4522, SNP+45 and SNP+331 in adiponectin gene, and constructed their haplotypes. Then, we assessed the association of the five SNPs with T2DM. Results (1)The genotypic and allelic frequencies of SNP-11391, SNP-11377, SNP-4522, SNP+45 and SNP+331 had no significant difference between T2DM and NDM groups (all P>0.05). (2)The frequencies of haplotype SNP-11377C-SNP-4522T had difference between T2DM and NDM groups(P=0.02). Conclusions The haplotype SNP-11377C-SNP-4522T of adiponectin gene is associated with increased T2DM risk (Or=1.60, 95%CI:1.09~2.35).

　　【Key words】Diabetes mellitus, type 2; Adiponectin gene; Single nucleotide polymorphism; Haplotype