title: Investigation of the association of Vogt-Koyanagi-Harada syndrome with IL23R-C1orf141 in Han Chinese Singaporean and ADO-ZNF365-EGR2 in Thai.
abstract: BACKGROUND
  We performed a multistage genome-wide association study of Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population and identified two novel non-human leukocyte antigen candidate regions previously. The aim of the study was to replicate the association of IL23R-C1orf141 and ADO-ZNF365-EGR2 with VKH syndrome in four sets of multinational populations in Asia.
  
  
  METHODS
  We conducted a candidate genes association study involving 185 patients with VKH syndrome and 287 normal controls from Han Chinese Singaporeans, non-Han Chinese, Thais and Koreans. Genotyping of 16 single nucleotide polymorphisms (SNPs) within IL23R-C1orf141 and ADO-ZNF365-EGR2 loci was performed using the Sequenom MassARRAY system or by Taqman SNP assays.
  
  
  RESULTS
  Eight SNPs in IL23R-Clorf141 showed an association with VKH syndrome only in Han Chinese Singaporeans (p=8.49×10(-5) to 1.02×10(-3), pcorrection=1.69×10(-4) to 2.04×10(-3)) but not in the other groups tested. One SNP rs1884444 in IL23R-Clorf141 was found to be weakly associated with VKH syndrome in the Han Chinese Singaporeans, but significance was lost following Bonferroni correction for multiple comparisons. Five SNPs in ADO-ZNF365-EGR2 were found to be associated with VKH syndrome in Thai patients with VKH (p=0.014, pc=0.028) but not in the other three ethnic groups tested.
  
  
  CONCLUSIONS
  This study confirmed the genetic associations between SNPs in IL23R-C1orf141 and VKH syndrome in Han Chinese Singaporeans but not in other Asian populations. In addition, we also successfully replicated the association of VKH syndrome with ADO-ZNF365-EGR2 in a Thai population.
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, P. R. China Chongqing Eye Institute, Chongqing, P. R. China Chongqing Key Laboratory of Ophthalmology, Chongqing, P. R. China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Cao
authors.affiliation: Singapore National Eye Centre, Singapore, Singapore Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore Singapore Eye Research Institute, Singapore, Singapore Department of Ophthalmology and Visual Sciences, Duke-National University of Singapore Graduate Medical School, Singapore, Singapore.
authors.forename: Soon Phaik
authors.initials: SP
authors.lastname: Chee
authors.affiliation: Department of Ophthalmology, College of Medicine, Seoul National University, Seoul, Korea Sensory Organs Institute, Medical Research Center, Seoul National University, Seoul, Korea.
authors.forename: Hyeong Gon
authors.initials: HG
authors.lastname: Yu
authors.affiliation: Department of Ophthalmology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Somsiri
authors.initials: S
authors.lastname: Sukavatcharin
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, P. R. China.
authors.forename: Lili
authors.initials: L
authors.lastname: Wu
authors.affiliation: University Eye Clinic Maastricht, Maastricht, The Netherlands.
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, P. R. China Chongqing Eye Institute, Chongqing, P. R. China Chongqing Key Laboratory of Ophthalmology, Chongqing, P. R. China.
authors.forename: Shengping
authors.initials: S
authors.lastname: Hou
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, P. R. China Chongqing Eye Institute, Chongqing, P. R. China Chongqing Key Laboratory of Ophthalmology, Chongqing, P. R. China.
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002338:Carotenoids / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D051767:Early Growth Response Protein 2 / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016366:Open Reading Frames / Q000235:genetics; D010105:Oxygenases / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics; D012846:Singapore / Q000453:epidemiology; D013785:Thailand / Q000453:epidemiology; D014157:Transcription Factors / Q000235:genetics; D014607:Uveomeningoencephalitic Syndrome / Q000208:ethnology / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2; D005136:Eye Proteins; C515500:IL23R protein, human; D018123:Receptors, Interleukin; D014157:Transcription Factors; C475725:ZNF365 protein, human; C110027:beta-apocarotenoid-14',13'-dioxygenase; D002338:Carotenoids; D010105:Oxygenases
keywords: Genetics