title: Chromosome 15q21-22-related polymorphisms and haplotypes are associated with susceptibility to type-2 diabetic nonproliferative retinopathy.
abstract: OBJECTIVE
  Diabetic retinopathy (DR) is a microvascular complication of diabetes with a complex multifactorial pathogenesis. We aimed to investigate whether chromosome 15q21-22-related gene polymorphisms could be used as markers of DR susceptibility in type 2 diabetic (T2D) individuals.
  
  
  METHODS
  Individuals were divided into three groups: (1) T2D with nonproliferative DR (NPDR; n=102); (2) T2D with proliferative DR (PDR; n=72); (3) T2D without DR (n=573). Six single-nucleotide polymorphisms (SNPs) (rs7174997, rs3751624, rs8025011, rs17818837, rs2922220, and rs2414520) lying within chromosome 15q21-22 region were genotyped by using Illumina HumanHap550-Duo BeadChips. Genotypes/allelic frequencies and haplotypes for these polymorphisms in each group were compared.
  
  
  RESULTS
  The MYO5C related SNP (rs3751624)*A related genotype and allele are associated with higher susceptibilities to DR, including PDR and NPDR. The rs3751624*GG/AA+AG percentages in each group are (1) 75.5%/24.5%, (2) 73.6%/26.4%, and (3) 82.5%/17.5%. In contrast, the other five SNPs in each group were not significantly different. One haplotype (G-A-G-G-T-G) appears significantly different between T2D individuals with and without DR. Other haplotype distributions were not significantly different between each group.
  
  
  CONCLUSIONS
  The MYO5C related SNP (rs3751624)*A related genotype/allele and haplotype (G-A-G-G-T-G) might be associated with susceptibility for retinopathy in T2D individuals. Some chromosome 15q21-22* related genetic variations might contribute to the pathogenesis of DR.
authors.affiliation: School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
authors.forename: Yao-Yuan
authors.initials: YY
authors.lastname: Hsieh
authors.forename: Yu-Chuen
authors.initials: YC
authors.lastname: Huang
authors.forename: Chi-Chen
authors.initials: CC
authors.lastname: Chang
authors.forename: Yu-Kuo
authors.initials: YK
authors.lastname: Wang
authors.forename: Wen-Hsin
authors.initials: WH
authors.lastname: Lin
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000368:Aged; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*