ALOX12基因多态性与糖尿病和糖尿病肾病的相关性研究

摘要

Objective To investigate the correlation of a single nucleotide polymorphism (SNP)locus rs1 126667 (R261Q)in the arachidonate 12-lipoxygenase (ALOX12)gene with type 2 diabetes mellitus(T2DM)and diabetic nephropathy(DN).Methods The SNP of ALOX12 gene was studied using a case-control method by single base extension reactions and matrix-assisted laser desorption ionization-time of flight mass spectrometry platform.A case-control study enrolled 223 T2DM patients [DN group (134 patients)and T2DM without nephropathy group (89 patients)]and 120 healthy subjects (healthy control group).Results ALOX12 gene locus rs1 126667 was consistent with Hardy-Weinberg equilibrium law,and the frequencies of ALOX12 gene locus rs1 126667 G/G,G/A and A/A genotypes in the healthy control group were 26%,47%and 27%.The frequencies in T2DMgroup were 30%,48%and the 22%,and odd ratios (OR)were 1,0.8 and 0.76.The frequencies in DN group were 31%,45% and 24%,and OR were 1,0.88 and 0.94.The frequencies in T2DMwithout nephropathy group were 28%,54%and 18%,and OR were 1,1.06 and 0.61.No statistical significance in all groups was found(P>0.05).A allele frequencies in the healthy control group,T2DMgroup,DN group and T2DMwithout nephropathy group were 50%,46%,47%and 45%without statistical significance(P>0.05).Conclusions No correlation of the ALOX12 gene polymorphism with T2DM or DM is found in the northeast Han Chinese.%目的：研究ALOX12基因位点rs1126667（R261Q）单核苷酸多态性（SNP）与2型糖尿病（T2DM）及糖尿病肾病（DN）的相关性。方法在北方汉族人群中采用病例-对照方法选择223例T2DM患者（其中DN 134例、T2DM无肾病89例）和120名健康体检者（正常对照组）。应用单碱基延伸反应和基质辅助激光解吸电离飞行时间质谱技术对该基因SNP进行研究。结果 ALOX12基因rs1126667位点符合Hardy-Weinberg平衡定律。正常对照组G/G、G/A、A/A 3种基因型的频率为26％、47％和27％；T2DM组的频率分别为30％、48％和22％，相对危险度（OR）分别为1、0．8、0．76；DN组的频率分别为31％、45％和24％，OR值分别为1、0．88、0．94；T2DM无肾病组的频率分别为28％、54％和18％，OR值分别为1、1．06、0．61，各组间差异均无统计学意义（P＞0．05）。正常对照组、T2DM组、DN组和T2DM无肾病组A等位基因频率分别为50％、46％、47％、45％，各组间差异无统计学意义（P＞0．05）。结论在北方汉族人群中未发现ALOX12基因多态性与T2DM、DN有关。