[1]殷学伟,刘滨,毕宏生,等.单核苷酸多态性与葡萄膜炎发生的研究进展[J].眼科新进展,2018,38(8):790-793.[doi:10.13389/j.cnki.rao.2018.0187]
 YIN Xue-Wei,LIU Bin,BI Hong-Sheng,et al.Research advances in relationship between single nucleotide polymorphisms and the occurrence of uveitis[J].Recent Advances in Ophthalmology,2018,38(8):790-793.[doi:10.13389/j.cnki.rao.2018.0187]
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单核苷酸多态性与葡萄膜炎发生的研究进展/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
38卷
期数:
2018年8期
页码:
790-793
栏目:
文献综述
出版日期:
2018-08-05

文章信息/Info

Title:
Research advances in relationship between single nucleotide polymorphisms and the occurrence of uveitis
作者:
殷学伟刘滨毕宏生郭大东
250014 山东省济南市,山东中医药大学[殷学伟(2017级硕士研究生),刘滨(2016级硕士研究生)];250002 山东省济南市,山东省中西医结合眼病防治重点实验室,山东中医药大学眼科研究所(郭大东,毕宏生)
Author(s):
YIN Xue-WeiLIU BinBI Hong-ShengGUO Da-Dong
Shandong University of Traditional Chinese Medicine(YIN Xue-Wei,LIU Bin),Jinan 250014,Shandong Province,China;Shandong Provincial Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Therapy of Ocular Diseases,Eye Institute of Shandong University of Traditional Chinese Medicine(GUO Da-Dong,BI Hong-Sheng),Jinan 250002,Shandong Province,China
关键词:
单核苷酸多态性葡萄膜炎易感基因
Keywords:
single nucleotide polymorphismuveitissusceptible gene
分类号:
R773
DOI:
10.13389/j.cnki.rao.2018.0187
文献标志码:
A
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。
Abstract:
Uveitis is a series of common,complicated 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.

参考文献/References:

[1] OMBRELLO M J,KIRINO Y,DE BAKKER P I,GL A,KASTNER D L,REMMERS E F.Behet disease-associated MHC class 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,FRANCISCO V,ABDOLLAHI BS,et al.Characterization of the major histocompatibility complex locus association with Behet’s disease in Iran[J].Arthrit Res Ther,2015,17:81.
[3] TAKEUCHI M,MIZUKI N,MEGURO A,OMBRELLO MJ,KIRINO Y,SATORIUS C,et al.Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behet’s disease susceptibility[J].Nat Genet,2017,49(3):438-443.
[4] LEE Y H,CHOI S J,JI J D,SONG G G.Genome-wide pathway analysis of a genome-wide 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,KASTNER D L,REMMERS E F.Behet disease-associated MHC class 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,CHOE JY,et al.Interleukin-17F gene polymorphisms in Korean patients with Behet’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,KHABAZI A,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 Behet’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.Two-stage association study in Chinese Han identifies two 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 Behet 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,WORTHINGTON J,OLLIER WE,GUL A.Polymorphisms in the endothelial nitric oxide synthase gene are associated with Behet’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-wide 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,FONSECA B V,JESUS G,et al.Gene expression profiling and association studies implicate the neuregulin signaling pathway 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 Behet’s disease in Han Chinese in a genome-wide 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,JIANG Z,CHEN Y,LI F,CHEN F,et al.Replication study confirms the association between UBAC2 and Behet’s disease in two 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.TNFAIP3 gene 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 Behet’s disease patients in two ethnic cohorts[J].Clin Exp Rheumatol,2013,31(3):54-56.
[27] DURRANI O,BANAHAN K,SHEEDY F J,MCBRIDE L,BEN-CHETRIT E,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,GHOLIZADEH S,KHABBAZI A,KHODADADI H,et al.A Single Nucleotide Polymorphism in the FOXP3 Gene Associated with Behet’s Disease in an Iranian Population[J].Clin Lab,2015,61(12):1897-1903.
[29] ORTIZ-FERNáNDEZ L,GARCíA-LOZANO JR,MONTES-CANO M A,CONDE-JALDóN M,ORTEGO-CENTENO N,GARCíA-HERNáNDEZ FJ,et al.Lack of association of TNFAIP3 and JAK1 with Behet’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,GRAHAM E M,STANFORD 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,JIANG Z,HOU S,DU L,LI F.STAT4 polymorphism in a Chinese Han population with Vogt-Koyanagi-Harada syndrome and Behet’s disease[J].Hum Immunol,2010,71(7):723-726.
[32] OHNO S.Immunological aspects of Behet’s and Vogt-Koyanagi-Harada’s diseases[J].Trans Ophthalmol Soc UK,1981,101(Pt 3)(3):335-341.
[33] SHINDO Y,OHNO S,YAMAMOTO T,NAKAMURA S,INOKO H.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-Koyanagi-Harada(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 CLEC16A gene 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,KIJLSTRA A,et al.Investigation of the association of Vogt-Koyanagi-Harada 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 G K,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.TNF receptor-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,JIANG 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.

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备注/Memo

备注/Memo:
国家自然科学基金(编号:81674032);山东省自然科学基金(编号:ZR2016HP27,ZR2017-LH042);山东中医药科技发展计划(编号:2015-145)
更新日期/Last Update: 2018-08-09