Fu Li-li, Lin Ying, Yang Zheng-lin, Yin Yi-bing
Department of Laboratory Medicine, Chongqing University of Medical Sciences, Chongqing, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Apr;29(2):194-9. doi: 10.3760/cma.j.issn.1003-9406.2012.02.017.
To study the associations of single nucleotide polymorphisms (SNPs) of TCF7L2, CDKAL1, SLC30A8, HHEX with diabetic retinopathy (DR) and nephropathy (DN) in type 2 diabetes mellitus.
A total of 479 subjects with DR,248 with DN and 650 without DR or DN were recruited to assess the associations between SNPs of TCF7L2 (rs7903146, rs6585205, rs11196218), CDKAL1 (rs10946398,rs4712527), SLC30A8 (rs13266634, rs3802177, rs11558471) and HHEX (rs1111875, rs7923837) and the development of DR and DN.
There were significant differences in genotypic and allele frequencies of rs11558471 (SLC30A8) between DR and control groups (P< 0.05), the odds ratio (OR) values of A and AA were 1.27 and 1.68. The distributions of genotype and allele frequency for rs11196218 (TCF7L2) were significantly different between DN and control group (P=0.0051,OR=1.37). However, the P value after Bonferroni correction showed no significant difference. No significant differences were found in the distributions of rs13266634 and rs3802177 (SLC30A8), rs10946398 (CDKAL1), rs6585205, rs7903146 and rs11196218 (TCF7L2) and rs7923837 (HHEX) between DR and control groups, and nor significant differences were found in distributions of rs6585205 (TCF7L2), rs4712527 (CDKAL1), rs13266634, rs3802177 and rs11558471 (SLC30A8), and 7923837 (HHEX) between DN and control groups, though for all comparison the OR values were greater than 1.
Polymorphisms of SLC30A8 and TCF7L2 genes may be associated with the development of DR and DN, respectively. Association between the polymorphisms of CKDAL1, TCF7L2 and HHEX genes and DR, and between the polymorphisms of SLC30A8, HHEX and CDKAL1 genes and DN, cannot be excluded.
研究2型糖尿病中TCF7L2、CDKAL1、SLC30A8、HHEX单核苷酸多态性（SNP）与糖尿病视网膜病变（DR）及糖尿病肾病（DN）的相关性。
共纳入479例DR患者、248例DN患者及650例无DR或DN的对照者，评估TCF7L2（rs7903146、rs6585205、rs11196218）、CDKAL1（rs10946398、rs4712527）、SLC30A8（rs13266634、rs3802177、rs11558471）和HHEX（rs1111875、rs7923837）的SNP与DR和DN发生发展的相关性。
DR组与对照组之间rs11558471（SLC30A8）的基因型和等位基因频率存在显著差异（P<0.05），A和AA的比值比（OR）值分别为1.27和1.68。DN组与对照组之间rs11196218（TCF7L2）的基因型和等位基因频率分布有显著差异（P=0.0051，OR=1.37）。然而，经Bonferroni校正后的P值无显著差异。DR组与对照组之间rs13266634和rs3802177（SLC30A8）、rs10946398（CDKAL1）、rs6585205、rs7903146和rs11196218（TCF7L2）以及rs7923837（HHEX）的分布无显著差异，DN组与对照组之间rs6585205（TCF7L2）、rs4712527（CDKAL1）、rs13266634、rs3802177和rs11558471（SLC30A8）以及rs7923837（HHEX）的分布也无显著差异，尽管所有比较的OR值均大于1。
SLC30A8和TCF7L2基因多态性可能分别与DR和DN的发生发展相关。不能排除CKDAL1、TCF7L2和HHEX基因多态性与DR之间以及SLC30A8、HHEX和CDKAL1基因多态性与DN之间存在关联。
