title: TNFAIP3 gene polymorphisms in a Chinese Han population with Vogt-Koyanagi-Harada syndrome.
abstract: BACKGROUND
  This study was performed to evaluate the potential association of TNFAIP3 polymorphisms with Vogt-Koyanagi-Harada (VKH) disease in a Chinese Han population.
  
  
  RESULTS
  Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were genotyped in 834 VKH disease patients and 1415 healthy controls using a PCR-restriction fragment length polymorphism assay. An increased frequency of the C allele and CT genotype for rs9494885 were found in VKH patients in the Guangzhou and Chongqing cohorts (pc = 0.015, OR = 1.6, pc = 0.036, OR = 1.7; pc = 2.36×10-4, OR = 1.5, pc = 0.012, OR = 1.5, respectively). Meanwhile, a decreased frequency of the TT genotype for rs9494885 was observed in VKH patients in the Guangzhou and Chongqing cohorts (pc = 0.026, OR = 0.6, pc = 0.0074, OR = 0.7, respectively). The combined analysis showed that a significantly increased prevalence of the rs9494885 TC genotype and C allele were found in VKH disease patients compared with controls (pc = 2.26×10-5, OR = 1.7; pc = 1.09× 10-5, OR = 1.6, respectively). The frequency of the TT genotype of rs9494885 was markedly lower in VKH disease patients as compared with that in controls (pc = 1.12×10-5, OR = 0.6; pc = 1.09×10(-5), OR = 0.6, respectively). No association was found between rs10499194, rs610604, rs7753873 and rs5029928 polymorphisms and VKH disease. To our knowledge this is the first report describing the association of a TNFAIP3 gene polymorphism with VKH disease in a Chinese Han population.
  
  
  CONCLUSIONS
  The results suggest that the rs9494885 TC genotype and C allele may be predisposing factors to VKH disease, whereas the rs9494885 TT genotype and T allele may provide protection against this disease.
authors.affiliation: First Affiliated Hospital of Chongqing Medical University, Chongqing, PR China.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.forename: Shengping
authors.initials: S
authors.lastname: Hou
authors.forename: Liping
authors.initials: L
authors.lastname: Du
authors.forename: Qingyun
authors.initials: Q
authors.lastname: Zhou
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology* / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3; D014607:Uveomeningoencephalitic Syndrome / Q000208:ethnology* / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
references.citation: Invest Ophthalmol Vis Sci. 2011 Sep 09;52(10):7084-9
references.pmid: 21810982
references.citation: Nat Genet. 2009 Feb;41(2):199-204
references.pmid: 19169254
references.citation: Curr Opin Neurol. 2005 Jun;18(3):323-9
references.pmid: 15891420
references.citation: Mol Vis. 2008;14:2597-603
references.pmid: 19122825
references.citation: Ophthalmology. 2007 Mar;114(3):606-14
references.pmid: 17123618
references.citation: Trans Ophthalmol Soc U K. 1981 Sep;101 (Pt 3)(3):335-41
references.pmid: 6820735
references.citation: Am J Ophthalmol. 2001 May;131(5):647-52
references.pmid: 11336942
references.citation: Int Ophthalmol. 1992 Jan;16(1):49-54
references.pmid: 1537650
references.citation: Nature. 2009 Jun 4;459(7247):712-6
references.pmid: 19412163
references.citation: Surv Ophthalmol. 1995 Jan-Feb;39(4):265-92
references.pmid: 7725227
references.citation: Hum Immunol. 2010 Jul;71(7):723-6
references.pmid: 20438790
references.citation: Arthritis Rheum. 2009 Jul;60(7):2124-30
references.pmid: 19565500
references.citation: Nat Genet. 2008 Sep;40(9):1059-61
references.pmid: 19165918
references.citation: Hum Immunol. 2010 Oct;71(10):988-91
references.pmid: 20620187
references.citation: Curr Eye Res. 2005 Nov;30(11):943-8
references.pmid: 16282128
references.citation: Hum Genet. 2013 Mar;132(3):293-300
references.pmid: 23161053
references.citation: J Clin Invest. 2010 Sep;120(9):3073-83
references.pmid: 20811163
references.citation: Hum Genet. 2010 Dec;128(6):627-33
references.pmid: 20852893
references.citation: Ann Rheum Dis. 2011 Sep;70(9):1641-4
references.pmid: 21623003
references.citation: Arch Ophthalmol. 1990 Oct;108(10):1421-6
references.pmid: 2222275
references.citation: Nat Rev Genet. 2009 Jan;10(1):43-55
references.pmid: 19092835
references.citation: Arthritis Rheum. 2010 Feb;62(2):574-9
references.pmid: 20112363
references.citation: Nat Genet. 2007 Dec;39(12):1431-3
references.pmid: 17982455
references.citation: Nat Rev Immunol. 2005 Dec;5(12):941-52
references.pmid: 16322747
references.citation: Arch Ophthalmol. 1991 Mar;109(3):368-70
references.pmid: 2003797
references.citation: Nature. 2009 Jun 4;459(7247):717-21
references.pmid: 19412164
references.citation: J Exp Med. 2009 May 11;206(5):981-9
references.pmid: 19380639
references.citation: Nat Genet. 2011 Mar;43(3):253-8
references.pmid: 21336280
references.citation: Am J Ophthalmol. 1995 Feb;119(2):239-40
references.pmid: 7832237
references.citation: J Invest Dermatol. 2012 Mar;132(3 Pt 1):593-600
references.pmid: 22113471
references.citation: Tissue Antigens. 1996 Apr;47(4):344-5
references.pmid: 8773327
references.citation: Science. 2000 Sep 29;289(5488):2350-4
references.pmid: 11009421
references.citation: Nat Genet. 2007 Dec;39(12):1477-82
references.pmid: 17982456
references.citation: Genes Immun. 2011 Apr;12(3):176-82
references.pmid: 21326317
references.citation: Clin Immunol. 2008 Apr;127(1):43-8
references.pmid: 18282809
references.citation: Hum Mol Genet. 2010 May 15;19(10):2059-67
references.pmid: 20176734
references.citation: Retina. 1994;14(5):435-7
references.pmid: 7899719