单核苷酸多态性与葡萄膜炎发生的研究进展
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摘要
葡萄膜炎是一类临床常见的致盲性眼病,病因复杂,可造成眼组织不可逆性损害。单核苷酸多态性(single nucleotide polymorphisms,SNPs)是个体间表型差异的主要原因,可以影响人类疾病的发展。SNPs是由DNA序列上单个碱基变异造成的,具有髙频、稳定和易分析等特点,是研究疾病易感基因的重要手段。近年来文献报道,基因SNPs与葡萄膜炎发病密切相关,本文就基因SNPs与葡萄膜炎发生的相关性研究进展进行综述,为葡萄膜炎相关性研究提供思路。
Uveitis is a series of common,c omplicated blinding eye diseases in clinical practice,which can lead to irreversible damage to the eye tissues. Single nucleotide polymorphisms( SNPs) are primary causes for phenotype differences among individuals,affecting the development of various diseases of human beings. The SNPs are caused by mutation of single base from DNA strand,possessing the characteristics of high frequency,stability and easy analysis. Recently,a lot of literatures reported that SNPs are closely related to the occurrence and development of uveitis. The present paper reviewed the recent advances in the relationship between SNPs and the development of uveitis,providing a new insight into the investigation of uveitis.
Uveitis is a series of common,c omplicated blinding eye diseases in clinical practice,which can lead to irreversible damage to the eye tissues. Single nucleotide polymorphisms( SNPs) are primary causes for phenotype differences among individuals,affecting the development of various diseases of human beings. The SNPs are caused by mutation of single base from DNA strand,possessing the characteristics of high frequency,stability and easy analysis. Recently,a lot of literatures reported that SNPs are closely related to the occurrence and development of uveitis. The present paper reviewed the recent advances in the relationship between SNPs and the development of uveitis,providing a new insight into the investigation of uveitis.
引文
[1]OMBRELLO M J,KIRINO Y,DE BAKKER P I,GUL A,KASTNERD L,REMMERS E F.Behcet disease-associated MHCclass I residues implicate antigen binding and regulation of cell-mediated cytotoxicity[J].Proc Natl Acad Sci USA,2014,111(24):8867-8872.
[2]XAVIER J M,DAVATCHI F,ABADE O,SHAHRAM F,FRANCISCOV,ABDOLLAHI BS,et al.Characterization of the major histocompatibility complex locus association with Beh9et’s disease in Iran[J].Arthrit Res Ther,2015,17:81.
[3]TAKEUCHI M,MIZUKI N,MEGURO A,OMBRELLO MJ,KIRINOY,SATORIUS C,et al.Dense genotyping of immune-related loci implicates host responses to microbial exposure in Beh9et’s disease susceptibility[J].Nat Genet,2017,49(3):438-443.
[4]LEE Y H,CHOI S J,J I J D,SONG G G.Genome-w ide pathw ay analysis of a genome-w ide association study on psoriasis and Behcet’s disease[J].Mol Biol Rep,2012,39(5):5953-5959.
[5]OMBRELLO M J,KIRINO Y,DE BAKKER P I,GüL A,KASTNERD L,REMMERS E F.Beh9et disease-associated MHCclass I residues implicate antigen binding and regulation of cell-mediated cytotoxicity[J].Proc Natl Acad Sci USA,2014,111(24):8867-8872.
[6]JANG W C,NAM Y H,AHN Y C,LEE S H,PARK S H,CHOEJY,et al.Interleukin-17F gene polymorphisms in Korean patients with Beh9et’s disease[J].Rheumatol Int,2008,29(2):173-178.
[7]TALAAT R M,ASHOUR M E,BASSYOUNI I H,RAOUF A A.Polymorphisms of interleukin 6 and interleukin 10 in Egyptian people with Behcet’s disease[J].Immunobiology,2014,219(8):573-582.
[8]HU J,HOU S,ZHU X,FANG J,ZHOU Y,LIU Y,et al.Interleukin-10 gene polymorphisms are associated with Behcet’s disease but not with Vogt-Koyanagi-Harada syndrome in the Chinese Han population[J].Mol Vis,2015,21:589-603.
[9]DEHGHANZADEH R,BABALOO Z,SAKHINIA E,KHABAZIA,SHANEHBANDI D,SADIGH-ETEGHAD S,et al.IL-27 Gene Polymorphisms in Iranian Patients with Behcet’s Disease[J].Clin Lab,2016,62(5):855-861.
[10]XIANG Q,CHEN L,HOU S,FANG J,ZHOU Y,BAI L,et al.TRAF5 and TRAF3IP2 gene polymorphisms are associated with Beh9et’s disease and Vogt-Koyanagi-Harada syndrome:a case-control study[J].PLoS One,2014,9(1):e84214.
[11]HOU S,XIAO X,LI F,JIANG Z,KIJLSTRA A,YANG P.Tw ostage association study in Chinese Han identifies tw o independent associations in CCR1/CCR3 locus as candidate for Behcet’s disease susceptibility[J].Human Genet,2012,131(12):1841-1850.
[12]HOU S,XIAO X,ZHOU Y,ZHU X,LI F,KIJLSTRA A,et al.Genetic variant on PDGFRL associated with Beh9et disease in Chinese Han populations[J].Human Mutat,2013,34(1):74-78.
[13]ABDEL GALIL S M,HAGRASS H A.The role of CTLA-4 exon-1 49 A/G polymorphism and soluble CTLA-4 protein level in Egyptian patients with Behcet’s disease[J].Biomed Res Int,2014,2014:513915.
[14]ZHENG X,WANG D,HOU S,ZHANG C,LEI B,XIAO X,et al.Association of macrophage migration inhibitory factor gene polymorphisms with Behcet’s disease in a Han Chinese population[J].Ophthalmology,2012,119(12):2514-2518.
[15]KARASNEH J A,HAJEER A H,SILMAN A,WORTHINGTONJ,OLLIER WE,GUL A.Polymorphisms in the endothelial nitric oxide synthase gene are associated with Beh9et’s disease[J].Rheumatology(Oxford),2005,44(5):614-617.
[16]CHMAISSE H N,FAKHOURY H A,SALTI N N,MAKKI R F.The ICAM-1(469 T/C)gene polymorphism but not(241 G/A)is associated with Behcet`s disease in the Lebanese population[J].Neurosciences(Riyadh),2006,11(3):187-190.
[17]LEE Y J,HORIE Y,WALLACE G R,CHOI Y S,PARK J A,CHOI J Y,et al.Genome-w ide association study identifies GIMAP as a novel susceptibility locus for Behcet’s disease[J].Ann Rheum Dis,2013,72(9):1510-1516.
[18]XAVIER J M,KRUG T,DAVATCHI F,SHAHRAM F,FONSECAB V,JESUS G,et al.Gene expression profiling and association studies implicatethe neuregulin signaling pathw ay in Behcet’s disease susceptibility[J].J Mol Med,2013,91(8):1013-1023.
[19]HOU S,YANG Z,DU L,JIANG Z,SHU Q,CHEN Y,et al.Identification of a susceptibility locus in STAT4 for Beh9et’s disease in Han Chinese in a genome-w ide association study[J].Arthrit Rheumatol,2012,64(12):4104-4113.
[20]HOU S,QI J,ZHANG Q,LIAO D,LI Q,HU K,et al.Genetic variants in the JAK1 gene confer higher risk of Behcet’s disease with ocular involvement in Han Chinese[J].Human Genet,2013,132(9):1049-1058.
[21]ZHANG L,YU H,ZHENG M,LI H,LIU Y,KIJLSTRA A,et al.Association of ERAP1 gene polymorphisms with Behcet’s disease in Han Chinese[J].Invest Ophthalmol Vis Sci,2015,56(10):6029-6035.
[22]SAWALHA A H,HUGHES T,NADIG A,YILMAZ V,AKSU K,KESER G,et al.A putative functional variant within the UBAC2 gene is associated with increased risk of Behcet’s disease[J].Arthrit Rheumatol,2011,63(11):3607-3612.
[23]ZHENG M,YU H,ZHANG L,LI H,LIU Y,KIJLSTRA A,et al.Association of ATG5 gene polymorphisms with Behcet’s disease and ATG10 gene polymorphisms with VKH syndrome in a Chinese Han population[J].Invest Ophthalmol Vis Sci,2015,56(13):8280-8287.
[24]HOU S,SHU Q,J IANG Z,CHEN Y,LI F,CHEN F,et al.Replication study confirms the association betw een UBAC2 and Beh9et’s disease in tw o independent Chinese sets of patients and controls[J].Arthrit Res Thera,2012,14(2):R70.
[25]LI H,LIU Q,HOU S,DU L,ZHOU Q,ZHOU Y,et al.TNFAIP3gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population[J].Human Genet,2013,132(3):293-300.
[26]COSKUND T,COITP A O,ALPSOYE D.TIR-domain-containing adaptor protein gene TIRAP S180L polymorphism is not increased in Beh9et’s disease patients in tw o ethnic cohorts[J].Clin Exp Rheumatol,2013,31(3):54-56.
[27]DURRANI O,BANAHAN K,SHEEDY F J,MCBRIDE L,BENCHETRITE,GREINER K,et al.TIRAP Ser180Leu polymorphism is associated with Behcet’s disease[J].Rheumatology,2011,50(10):1760-1765.
[28]HOSSEINI A,SHANEHBANDI D,ESTIAR M A,GHOLIZADEHS,KHABBAZI A,KHODADADI H,et al.A Single Nucleotide Polymorphism in the FOXP3 Gene Associated with Beh9et’s Disease in an Iranian Population[J].Clin Lab,2015,61(12):1897-1903.
[29]ORTIZ-FERNáNDEZ L,GARCíA-LOZANO JR,MONTES-CANOM A,CONDE-JALDóN M,ORTEGO-CENTENO N,GARCíA-HERNáNDEZ FJ,et al.Lack of association of TNFAIP3and JAK1 with Beh9et’s disease in the European population[J].Clin Exp Rheumatol,2015,33(6 Suppl 94):S36-39.
[30]CHEN Y,VAUGHAN R W,KONDEATIS E,FORTUNE F,GRAHAME M,S TANFORD M R,et al.Chemokine gene polymorphisms associate with gender in patients with uveitis[J].Tissue Antigens,2004,63(1):41-45.
[31]HU K,YANG P,J IANG Z,HOU S,DU L,LI F.STAT4 polymorphism in a Chinese Han population with Vogt-KoyanagiHarada syndrome and Beh9et’s disease[J].Hum Immunol,2010,71(7):723-726.
[32]OHNO S.Immunological aspects of Beh9et’s and Vogt-KoyanagiHarada’s diseases[J].Trans Ophthalmol Soc UK,1981,101(Pt 3)(3):335-341.
[33]SHINDO Y,OHNO S,YAMAMOTO T,NAKAMURA S,INOKOH.Complete association of the HLA-DRB1*04 and-DQB1*04 alleles with Vogt-Koyanagi-Harada’s disease[J].Hum Immunol,1994,39(3):169-176.
[34]HU K,HOU S,LI F,XIANG Q,KIJLSTRA A,YANG P.JAK1,but not JAK2 and STAT3,confers susceptibility to Vogt-KoyanagiHarada(VKH)syndrome in a Han Chinese population[J].Invest Ophthalmol Vis Sci,2013,54(5):3360-3365.
[35]LI K,HOU S,QI J,KIJLSTRA A,YANG P.A variant of CLEC16Agene confers protection for Vogt-Koyanagi-Harada syndrome but not for Behcet’s disease in a Chinese Han population[J].Exp Eye Res,2015,132:225-230.
[36]CAO S,CHEE SP,YU HG,SUKAVATCHARIN S,WU L,KIJLSTRAA,et al.Investigation of the association of Vogt-KoyanagiHarada syndrome with IL23R-C1orf141 in Han Chinese Singaporean and ADO-ZNF365-EGR2 in Thai[J].Br J Ophthalmol,2016,100(3):436-442.
[37]LAN C,TAM P O,CHIANG SW,CHAN C K,LUK F O,LEE GK,et al.Manganese superoxide dismutase and chemokine genes polymorphisms in chinese patients with anterior uveitis[J].Invest Ophthalmol Vis Sci,2009,50(12):5596-5600.
[38]XIANG Q,CHEN L,FANG J,HOU S,WEI L,BAI L,et al.TNFreceptor-associated factor 5 gene confers genetic predisposition to acute anterior uveitis and pediatric uveitis[J].Arthrit Res Ther,2013,15(5):R113.
[39]WANG Y,HUANG X F,YANG M M,CAI W J,ZHENG M Q,MAO G,et al.CFI-rs7356506 is a genetic protective factor for acute anterior uveitis in Chinese patients[J].Br J Ophthalmol,2014,98(11):1592-1596.
[40]LI H,HOU S,YU H,ZHENG M,ZHANG L,ZHANG J,et al.Association of genetic variations in TNFSF15 with acute anterior uveitis in Chinese Han[J].Invest Ophthalmol Vis Sci,2015,56(8):4605-4610.
[41]XU D,HOU S,J IANG Y,ZHANG J,CAO S,ZHANG D,et al.Complement C5 gene confers risk for acute anterior uveitis[J].Invest Ophthalmol Vis Sci,2015,56(8):4954-4960.
[2]XAVIER J M,DAVATCHI F,ABADE O,SHAHRAM F,FRANCISCOV,ABDOLLAHI BS,et al.Characterization of the major histocompatibility complex locus association with Beh9et’s disease in Iran[J].Arthrit Res Ther,2015,17:81.
[3]TAKEUCHI M,MIZUKI N,MEGURO A,OMBRELLO MJ,KIRINOY,SATORIUS C,et al.Dense genotyping of immune-related loci implicates host responses to microbial exposure in Beh9et’s disease susceptibility[J].Nat Genet,2017,49(3):438-443.
[4]LEE Y H,CHOI S J,J I J D,SONG G G.Genome-w ide pathw ay analysis of a genome-w ide association study on psoriasis and Behcet’s disease[J].Mol Biol Rep,2012,39(5):5953-5959.
[5]OMBRELLO M J,KIRINO Y,DE BAKKER P I,GüL A,KASTNERD L,REMMERS E F.Beh9et disease-associated MHCclass I residues implicate antigen binding and regulation of cell-mediated cytotoxicity[J].Proc Natl Acad Sci USA,2014,111(24):8867-8872.
[6]JANG W C,NAM Y H,AHN Y C,LEE S H,PARK S H,CHOEJY,et al.Interleukin-17F gene polymorphisms in Korean patients with Beh9et’s disease[J].Rheumatol Int,2008,29(2):173-178.
[7]TALAAT R M,ASHOUR M E,BASSYOUNI I H,RAOUF A A.Polymorphisms of interleukin 6 and interleukin 10 in Egyptian people with Behcet’s disease[J].Immunobiology,2014,219(8):573-582.
[8]HU J,HOU S,ZHU X,FANG J,ZHOU Y,LIU Y,et al.Interleukin-10 gene polymorphisms are associated with Behcet’s disease but not with Vogt-Koyanagi-Harada syndrome in the Chinese Han population[J].Mol Vis,2015,21:589-603.
[9]DEHGHANZADEH R,BABALOO Z,SAKHINIA E,KHABAZIA,SHANEHBANDI D,SADIGH-ETEGHAD S,et al.IL-27 Gene Polymorphisms in Iranian Patients with Behcet’s Disease[J].Clin Lab,2016,62(5):855-861.
[10]XIANG Q,CHEN L,HOU S,FANG J,ZHOU Y,BAI L,et al.TRAF5 and TRAF3IP2 gene polymorphisms are associated with Beh9et’s disease and Vogt-Koyanagi-Harada syndrome:a case-control study[J].PLoS One,2014,9(1):e84214.
[11]HOU S,XIAO X,LI F,JIANG Z,KIJLSTRA A,YANG P.Tw ostage association study in Chinese Han identifies tw o independent associations in CCR1/CCR3 locus as candidate for Behcet’s disease susceptibility[J].Human Genet,2012,131(12):1841-1850.
[12]HOU S,XIAO X,ZHOU Y,ZHU X,LI F,KIJLSTRA A,et al.Genetic variant on PDGFRL associated with Beh9et disease in Chinese Han populations[J].Human Mutat,2013,34(1):74-78.
[13]ABDEL GALIL S M,HAGRASS H A.The role of CTLA-4 exon-1 49 A/G polymorphism and soluble CTLA-4 protein level in Egyptian patients with Behcet’s disease[J].Biomed Res Int,2014,2014:513915.
[14]ZHENG X,WANG D,HOU S,ZHANG C,LEI B,XIAO X,et al.Association of macrophage migration inhibitory factor gene polymorphisms with Behcet’s disease in a Han Chinese population[J].Ophthalmology,2012,119(12):2514-2518.
[15]KARASNEH J A,HAJEER A H,SILMAN A,WORTHINGTONJ,OLLIER WE,GUL A.Polymorphisms in the endothelial nitric oxide synthase gene are associated with Beh9et’s disease[J].Rheumatology(Oxford),2005,44(5):614-617.
[16]CHMAISSE H N,FAKHOURY H A,SALTI N N,MAKKI R F.The ICAM-1(469 T/C)gene polymorphism but not(241 G/A)is associated with Behcet`s disease in the Lebanese population[J].Neurosciences(Riyadh),2006,11(3):187-190.
[17]LEE Y J,HORIE Y,WALLACE G R,CHOI Y S,PARK J A,CHOI J Y,et al.Genome-w ide association study identifies GIMAP as a novel susceptibility locus for Behcet’s disease[J].Ann Rheum Dis,2013,72(9):1510-1516.
[18]XAVIER J M,KRUG T,DAVATCHI F,SHAHRAM F,FONSECAB V,JESUS G,et al.Gene expression profiling and association studies implicatethe neuregulin signaling pathw ay in Behcet’s disease susceptibility[J].J Mol Med,2013,91(8):1013-1023.
[19]HOU S,YANG Z,DU L,JIANG Z,SHU Q,CHEN Y,et al.Identification of a susceptibility locus in STAT4 for Beh9et’s disease in Han Chinese in a genome-w ide association study[J].Arthrit Rheumatol,2012,64(12):4104-4113.
[20]HOU S,QI J,ZHANG Q,LIAO D,LI Q,HU K,et al.Genetic variants in the JAK1 gene confer higher risk of Behcet’s disease with ocular involvement in Han Chinese[J].Human Genet,2013,132(9):1049-1058.
[21]ZHANG L,YU H,ZHENG M,LI H,LIU Y,KIJLSTRA A,et al.Association of ERAP1 gene polymorphisms with Behcet’s disease in Han Chinese[J].Invest Ophthalmol Vis Sci,2015,56(10):6029-6035.
[22]SAWALHA A H,HUGHES T,NADIG A,YILMAZ V,AKSU K,KESER G,et al.A putative functional variant within the UBAC2 gene is associated with increased risk of Behcet’s disease[J].Arthrit Rheumatol,2011,63(11):3607-3612.
[23]ZHENG M,YU H,ZHANG L,LI H,LIU Y,KIJLSTRA A,et al.Association of ATG5 gene polymorphisms with Behcet’s disease and ATG10 gene polymorphisms with VKH syndrome in a Chinese Han population[J].Invest Ophthalmol Vis Sci,2015,56(13):8280-8287.
[24]HOU S,SHU Q,J IANG Z,CHEN Y,LI F,CHEN F,et al.Replication study confirms the association betw een UBAC2 and Beh9et’s disease in tw o independent Chinese sets of patients and controls[J].Arthrit Res Thera,2012,14(2):R70.
[25]LI H,LIU Q,HOU S,DU L,ZHOU Q,ZHOU Y,et al.TNFAIP3gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population[J].Human Genet,2013,132(3):293-300.
[26]COSKUND T,COITP A O,ALPSOYE D.TIR-domain-containing adaptor protein gene TIRAP S180L polymorphism is not increased in Beh9et’s disease patients in tw o ethnic cohorts[J].Clin Exp Rheumatol,2013,31(3):54-56.
[27]DURRANI O,BANAHAN K,SHEEDY F J,MCBRIDE L,BENCHETRITE,GREINER K,et al.TIRAP Ser180Leu polymorphism is associated with Behcet’s disease[J].Rheumatology,2011,50(10):1760-1765.
[28]HOSSEINI A,SHANEHBANDI D,ESTIAR M A,GHOLIZADEHS,KHABBAZI A,KHODADADI H,et al.A Single Nucleotide Polymorphism in the FOXP3 Gene Associated with Beh9et’s Disease in an Iranian Population[J].Clin Lab,2015,61(12):1897-1903.
[29]ORTIZ-FERNáNDEZ L,GARCíA-LOZANO JR,MONTES-CANOM A,CONDE-JALDóN M,ORTEGO-CENTENO N,GARCíA-HERNáNDEZ FJ,et al.Lack of association of TNFAIP3and JAK1 with Beh9et’s disease in the European population[J].Clin Exp Rheumatol,2015,33(6 Suppl 94):S36-39.
[30]CHEN Y,VAUGHAN R W,KONDEATIS E,FORTUNE F,GRAHAME M,S TANFORD M R,et al.Chemokine gene polymorphisms associate with gender in patients with uveitis[J].Tissue Antigens,2004,63(1):41-45.
[31]HU K,YANG P,J IANG Z,HOU S,DU L,LI F.STAT4 polymorphism in a Chinese Han population with Vogt-KoyanagiHarada syndrome and Beh9et’s disease[J].Hum Immunol,2010,71(7):723-726.
[32]OHNO S.Immunological aspects of Beh9et’s and Vogt-KoyanagiHarada’s diseases[J].Trans Ophthalmol Soc UK,1981,101(Pt 3)(3):335-341.
[33]SHINDO Y,OHNO S,YAMAMOTO T,NAKAMURA S,INOKOH.Complete association of the HLA-DRB1*04 and-DQB1*04 alleles with Vogt-Koyanagi-Harada’s disease[J].Hum Immunol,1994,39(3):169-176.
[34]HU K,HOU S,LI F,XIANG Q,KIJLSTRA A,YANG P.JAK1,but not JAK2 and STAT3,confers susceptibility to Vogt-KoyanagiHarada(VKH)syndrome in a Han Chinese population[J].Invest Ophthalmol Vis Sci,2013,54(5):3360-3365.
[35]LI K,HOU S,QI J,KIJLSTRA A,YANG P.A variant of CLEC16Agene confers protection for Vogt-Koyanagi-Harada syndrome but not for Behcet’s disease in a Chinese Han population[J].Exp Eye Res,2015,132:225-230.
[36]CAO S,CHEE SP,YU HG,SUKAVATCHARIN S,WU L,KIJLSTRAA,et al.Investigation of the association of Vogt-KoyanagiHarada syndrome with IL23R-C1orf141 in Han Chinese Singaporean and ADO-ZNF365-EGR2 in Thai[J].Br J Ophthalmol,2016,100(3):436-442.
[37]LAN C,TAM P O,CHIANG SW,CHAN C K,LUK F O,LEE GK,et al.Manganese superoxide dismutase and chemokine genes polymorphisms in chinese patients with anterior uveitis[J].Invest Ophthalmol Vis Sci,2009,50(12):5596-5600.
[38]XIANG Q,CHEN L,FANG J,HOU S,WEI L,BAI L,et al.TNFreceptor-associated factor 5 gene confers genetic predisposition to acute anterior uveitis and pediatric uveitis[J].Arthrit Res Ther,2013,15(5):R113.
[39]WANG Y,HUANG X F,YANG M M,CAI W J,ZHENG M Q,MAO G,et al.CFI-rs7356506 is a genetic protective factor for acute anterior uveitis in Chinese patients[J].Br J Ophthalmol,2014,98(11):1592-1596.
[40]LI H,HOU S,YU H,ZHENG M,ZHANG L,ZHANG J,et al.Association of genetic variations in TNFSF15 with acute anterior uveitis in Chinese Han[J].Invest Ophthalmol Vis Sci,2015,56(8):4605-4610.
[41]XU D,HOU S,J IANG Y,ZHANG J,CAO S,ZHANG D,et al.Complement C5 gene confers risk for acute anterior uveitis[J].Invest Ophthalmol Vis Sci,2015,56(8):4954-4960.