title: Association of genes on chromosome 6, GRIK2 , TMEM217 and TMEM63B (linked to MRPL14 ) with diabetic retinopathy.
abstract: OBJECTIVE
  Diabetic retinopathy (DR) is one of the most common complications of diabetes mellitus (DM). The susceptibility genes responsible for increasing the risk for DR in type 2 diabetes (T2D) were sought in this study.
  
  
  METHODS
  A case-control study was carried out, comprising 749 unrelated T2D individuals with (n = 174) and without (n = 575) DR. Genotypic distributions of single nucleotide polymorphisms (SNPs) were determined for subjects with and without DR.
  
  
  RESULTS
  Eight chromosome 6 SNPs, having the most significant differences, were delineated: rs10499298, rs10499299, rs17827966, rs1224329, rs1150790, rs713050, rs2518344 and rs487083; all were associated with genes TMEM217, MRPL14 and GRIK2. After adjusting for the duration of DM and levels of hemoglobin A(1c), the TT genotype of rs713050, and the AG + AA genotypes of rs2518344 and rs10499298, differed significantly between those with and without DR. Haplotype analysis revealed haplotype C-A-C, residing in rs10499299, rs10499298 and rs17827966, to have significant linkage disequilibrium.
  
  
  CONCLUSIONS
  We identified new loci on chromosome 6 associated to DR; all loci showed high levels of linkage disequilibrium.
authors.affiliation: Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan, ROC.
authors.forename: Hui-Ju
authors.initials: HJ
authors.lastname: Lin
authors.forename: Yu-Chuen
authors.initials: YC
authors.lastname: Huang
authors.forename: Jane-Ming
authors.initials: JM
authors.lastname: Lin
authors.forename: Jer-Yuarn
authors.initials: JY
authors.lastname: Wu
authors.forename: Liuh-An
authors.initials: LA
authors.lastname: Chen
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D002896:Chromosomes, Human, Pair 6 / Q000737:chemistry*; D004247:DNA / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018092:Kainic Acid Receptors / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D000097806:GluK2 Kainate Receptor
chemical_list: D004247:DNA; D018092:Kainic Acid Receptors; D000097806:GluK2 Kainate Receptor