开元棋牌电脑 |本期目录/Table of Contents|

[1]杨瑾,孙嘉悦,刘涛.原发性闭角型青光眼遗传流行病学研究进展[J].开元棋牌电脑_开元棋牌一直在维护_开元棋牌怎么对刷,2019,39(4):389-393.[doi:10.13389/j.cnki.rao.2019.0089]
 YANG Jin,SUN Jia-Yue,LIU Tao.Overview of the genetic epidemiology of primary angle-closure glaucoma[J].Recent Advances in Ophthalmology,2019,39(4):389-393.[doi:10.13389/j.cnki.rao.2019.0089]
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原发性闭角型青光眼遗传流行病学研究进展(/HTML)
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《开元棋牌电脑_开元棋牌一直在维护_开元棋牌怎么对刷》[ISSN:1003-5141/CN:41-1105/R]

卷:
39卷
期数:
2019年4期
页码:
389-393
栏目:
文献综述
出版日期:
2019-04-05

文章信息/Info

Title:
Overview of the genetic epidemiology of primary angle-closure glaucoma
作者:
杨瑾孙嘉悦刘涛
710021 陕西省西安市,西安医学院(杨瑾);102200 北京市,沙河医院眼科(孙嘉悦);723200 陕西省汉中市,3201医院眼科(刘涛)
Author(s):
YANG JinSUN Jia-YueLIU Tao
Xi’an Medical University(YANG Jin),Xi’an 710021,Shaanxi Province,China;Department of Ophthalmology,Shahe Hospital(SUN Jia-Yue),Beijing 102200,China;Department of Ophthalmology,Hanzhong 3201 Hospital(LIU Tao),Hanzhong 723200,Shaanxi Province,China
关键词:
原发性闭角型青光眼单核苷酸多态性遗传流行病学
Keywords:
primary angle-closure glaucomasignal nucleotide polymorphismgenetic epidemiology
分类号:
R775.2
DOI:
10.13389/j.cnki.rao.2019.0089
文献标志码:
A
摘要:
青光眼是一种以眼压增高为特征的遗传异质性眼病,具有进行性不可逆转的视神经变性、视野典型性改变及视网膜神经节细胞丢失的特点。原发性闭角型青光眼(primary angle-closure glaucoma,PACG)是青光眼的主要类型,是全球最常见的高患病率和高致盲率的一类眼病,给患者家庭及社会带来了沉重的负担。近期经家系研究、病例对照研究等多种遗传流行病学研究方法证实,PACG具有明显的遗传倾向。随着人类遗传学研究的快速发展和研究技术的不断提高,近年来基于全基因组关联分析以及候选基因关联分析的PACG遗传流行病学研究越来越多,主要集中在PACG发病相关的易感基因的研究,本文就PACG相关研究背景及遗传流行病学研究进展进行综述。
Abstract:
Glaucoma is a kind of genetic heterogeneity eye disease,with the characteristics of increased intraocular pressure,progressive irreversible optic nerve degeneration,typical change of visual field,and the lost of retinal ganglion cells.Primary angle-closure glaucoma is the main type of glaucoma.It is the most common eye disease with high prevalence and blindness in the world,which has brought a heavy burden to the family and society.Recently,studies on genetic epidemiology,such as family genetic studies and case-control studies,have been indicated that primary angle-closure glaucoma has obvious genetic predisposition.In recent years,with the rapid development of the human genetics research and the research technology,there are more and more genetic epidemiology researches about primary angle-closure glaucoma based on genome-wide association study and candidate gene study,which mainly concentrates on the study of the susceptibility genes associated with primary angle-closure glaucoma.In this review,we discuss the progress of previous studies focusing on the related research background and the genetic epidemiology about primary angle-closure glaucoma.

参考文献/References:

[1] WANG N L,WU H,FAN Z.Primary angle closure glaucoma in Chinese and Western populations[J].Chin Med J (Engl),2002,115(11):1706-1715.
[2] AMERASINGHE N,ZHANG J,THALAMUTHU A,HE M,VITHANA E N,VISWANATHAN A,et al.The heritability and sibling risk of angle closure in Asians[J].Ophthalmology,2011,118(3):480-485.
[3] CARLSON C S,KRUGLYAK L,NICKERSON D A.Mapping complex disease loci in whole-genome association studies[J].Nature,2004,429(6990):446-452.
[4] HARDY J,SINGLETON A.Genomewide association studies and human disease[J].N Engl J Med,2009,360(17):1759-1768.
[5] VITHANA E N,KHOR C C,QIAO C,NONGPIUR M E,GEORGE R,CHEN L J,et al.Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma[J].Nat Genet,2012,44(10):1142-1146.
[6] LEE M,SHEI W,CHAN A S,CHUA B T,GOH S R,CHONG Y F,et al.Primary angle closure glaucoma (PACG) susceptibility gene PLEKHA7 encodes a novel Rac1/Cdc42 GAP that modulates cell migration and blood-aqueous barrier function[J].Hum Mol Genet,2017,26(20):4011-4027.
[7] LIAO L,GONG X,LU M,YAN X,XIA Y,WEI Q.Associations of polymorphisms of rs1015213 with primary angle closure glaucoma-recent evidence and a meta-analysis[J].Int J Clin Exp Med,2015,8(7):10804-10814.
[8] AWADALLA M S,THAPA S S,HEWITT A W,BURDON K P,CRAIG J E.Association of genetic variants with primary angle closure glaucoma in two different populations[J].PLoS One,2013,8(6):e67903.
[9] CHEN Y,CHEN X,WANG L,HUGHES G,QIAN S,SUN X.Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population[J].Invest Ophthalmol Vis Sci,2014,55(6):3797-3802.
[10] KHOR C C,DO T,JIA H,NAKANO M,GEORGE R,ABU-AMERO K,et al.Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma[J].Nat Genet,2016,48(5):556-562.
[11] PRATT S,SHEPARD R L,KANDASAMY R A,JOHNSTON P A,PERRY W,DANTZIG A H,et al.The multidrug resistance protein 5(ABCC5) confers resistance to 5-fluorouracil and transports its monophosphorylated metabolites[J].Mol Cancer Ther,2005,4(5):855-863.
[12] SHEN Z,YE Y,KAUTTU T,SEPPANEN H,VAINIONPAA S,WANG S,et al.Novel focal adhesion protein kindlin-2 promotes the invasion of gastric cancer cells through phosphorylation of integrin β1 and β3[J].Surg Oncol,2013,108:106-112.
[13] BARONE R,AIELLO C,RACE V,MORAVA E,FOULQUIER F,RIEMERSMA M,et al.DPM2-CDG:a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy[J].Ann Neurol,2012,72:550-558.
[14] NONGPIUR M E,KHOR C C,JIA H,CORNES B K,CHEN L J,QIAO C,et al.ABCC5,a gene that influences the anterior chamber depth,is associated with primary angle closure glaucoma[J].PLoS Genet,2014,10(3):e1004089.
[15] WANG I J,CHIANG T H,SHIH Y F,LU S C,LIN L L,SHIEH J W,et al.The association of single nucleotide polymorphisms in the MMP-9 genes with susceptibility to acute primary angle closure glaucoma in Taiwanese patients[J].Mol Vis,2006,12:1223-1232.
[16] AUNG T,YOMG V H,LIM M C,VENKATAAMAN D,TOH J Y,CHEW P T,et al.Lack of association between the rs2664538 polymorphism in the MMP-9 gene and primary angle closure glaucoma in Singaporean subjects[J].J Glaucoma,2008,17(4):257-258.
[17] AWADALLA M S,BURDON K P,KUOT A,HEWITT A W,CRAIG J E.Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population[J].Mol Vis,2011,17:1420-1424.
[18] SHI H,ZHU R,HU N,SHI J,ZHANG J,JIANG L,et al.Association of frizzled-related protein(MFRP) and heal shock protein 70(HSP70) single nucleotide polymorphisms with primary angle closure in a Han Chinese population:Jiangsu Eye Study[J].Mol Vis,2013,19:128-134.
[19] GAO X J,HOU S P,LI P H.The association between matrix metalloprotease-9 gene polymorphisms and primary angle-closure glaucoma in a Chinese Han population[J].Int J Ophthalmol,2014,7(3):397-402.
[20] AWADALLA M S,THAPA S S,HEWITT A W,CRAIG J E,BURDON K P.Association of eNOS polymorphisms with primary angle-closure glaucoma[J].Invest Ophthalmol Vis Sci,2013,54(3):2108-2114.
[21] SHI H,ZHU R,HU N,SHI J,ZHANG J,YANG M,et al.Association of eNOS polymorphisms with anterior chamber depth in Han Chinese:Jiangsu Eye Study[J].J Ophthalmol,2014,2014:164104.
[22] SU Y D,DU Y,SUN K.Association of heal shock protein 70(HSP70) with primary angle-closure glaucoma[J].Chin Ophthalmol Med J,2015,5(5):24-27.
苏颖丹,杜云,孙康.血浆热休克蛋白70水平与原发性急性闭角型青光眼的相关性研究[J].中华眼科医学杂志(电子版),2015,5(5):24-27.
[23] AYUB H,KHAN M I,MICHEAL S,AKHTAR F,AJMAL M,SHAFIQUE S,et al.Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts[J].Mol Vis,2010,16:18-25.
[24] AWADALLA M S,BURDON K P,THAPA S S,HEWITT A W,CRAIG J E.A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma[J].Mol Vis,2012,18:2247-2254.
[25] CHEN J H,CHEN H,HUANG S,LIN J,ZHENG Y,XIE M,et al.Endophenotyping reveals differential phenotype-genotype correlations between myopia-associated polymorphisms and eye biometric parameters[J].Int J Ophthalmol,2014,7(3):397-402.
[26] VEERAPPAN S,PERTILE K K,ISLAM A F,SCHACHE M,CHEN C Y,MITCHELL P,et al.Role of the hepatocyte growth factor gene in refractive error[J].Ophthalmology,2010,117(2):239-245.
[27] AWADALLA M S,THAPA S S,BURDON K P,HEWITT A W,CRAIG J E,et al.The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population[J].Mol Vis,2011,17:2248-2254.
[28] INATANI M,TANIHARA H,KATSUTA H,HONJO M,KIDO N,HONDA Y.Transforming growth factor-β2 levels in aqueous humor of glaucomatous eyes[J].Graefes Arch Clin Exp Ophthalmol,2001,239(2):109-113.
[29] JEOUNG J W,KO J H,KIM Y J,KIM Y W,PARK K H,OH J Y.Micro array-based analysis of gene expression profiles in peripheral blood of patients with acute primary angle closure[J].Ophthalmic Genet,2017,38(6):208-220.
[30] DAI X,NIE S,KE T,LIU J,WANG Q,LIU M.Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma[J].Chin Genetics Med J,2008,25(5):493-496.
[31] JIN X,WANG D J,QU L H,HOU B K,GONG Y,XU W W.Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population[J].Genet Test Mol Biomarkers,2015,19(1):3-8.

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备注/Memo

备注/Memo:
陕西省重点研发计划重点项目(编号:2017ZDXM-SF-067);西安医学院附属3201医院科研基金项目资助计划
更新日期/Last Update: 2019-04-15