·糖尿病临床研究·

　　【摘要】 目的 探讨T2DM患者中SUA与相关基因的关联及交互作用。 方法 纳入1574例T2DM患者，采用基质辅助激光解吸电离飞行时间质谱技术对56个基因的86个SNP 位点进行基因分型，运用PLINK 软件进行关联分析及基因型交互作用分析。结果 在T2DM患者中ABCG2(rs2231142)、PKHD1(rs9395706)、PDGFB(rs2285094)、LPHN3(rs6856526)及MC4R(rs17782313)基因的多态性与血尿酸水平相关(P<0.05)。同时，有6组基因存在交互作用(P<0.001)。 结论 ABCG2、PKHD1、PDGFB、LPHN3及MC4R基因的多态性与T2DM患者SUA水平相关。

　　【关键词】糖尿病，2型;血尿酸;单核苷酸多态性;关联分析;基因型交互作用

Study on the association and gene-gene interaction in serum uric acid of T2DM patients WEI Feng-jiang, CAI Chun-you, SHI Wen-tao, et al. Laboratory of Molecular and Population Genetics, Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin 300070, China

Corresponding author: LI Wei-dong, Email: liweidong98@tijmu.edu.cn

　　【Abstract】Objective To investigate associations and genotype interactions between gene polymorphisms and serum uric acid (SUA) levels in T2DM patients. Methods The 1574 T2DM patients were recruited, 86 single nucleotide polymorphisms (SNPs) in 56 genes were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS), and the PLINK software was used for association and pairwise genotype interaction analyses. Results The polymorphism of five genes, including ABCG2 (rs2231142), PKHD1 (rs9395706), PDGFB (rs2285094), LPHN3 (rs6856526), and MC4R (rs17782313), were significantly associated with SUA levels (P<0.05), and there existed the interaction among six genotypes (P<0.001). Conclusion The polymorphism of ABCG2, PKHD1, PDGFB, LPHN3, and MC4R genes were associated with SUA levels in T2DM patients.

　　【Key words】Diabetes mellitus, type 2; Plasma uric acid levels; Single nucleotide polymorphisms; Association analysis; Genotype interaction