title: [Association analysis of genetic polymorphisms of TCF7L2, CDKAL1, SLC30A8, HHEX genes and  microvascular complications of type 2 diabetes mellitus].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Laboratory Medicine, Chongqing University of Medical Sciences, Chongqing, People's Republic of China.
authors.forename: Li-li
authors.initials: LL
authors.lastname: Fu
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Zheng-lin
authors.initials: ZL
authors.lastname: Yang
authors.forename: Yi-bing
authors.initials: YB
authors.lastname: Yin
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics*; D051360:Cyclin-Dependent Kinase 5 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D003925:Diabetic Angiopathies / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D058118:Transcription Factor 7-Like 2 Protein / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000075703:Zinc Transporter 8; D012359:tRNA Methyltransferases
chemical_list: D027682:Cation Transport Proteins; C078492:HHEX protein, human; D018398:Homeodomain Proteins; C492522:SLC30A8 protein, human; C544894:TCF7L2 protein, human; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors; D000075703:Zinc Transporter 8; D012359:tRNA Methyltransferases; D051360:Cyclin-Dependent Kinase 5; C525110:CDKAL1 protein, human