Literature DB >> 19405847

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.

Anand Swaroop1, Emily Y Chew, Catherine Bowes Rickman, Gonçalo R Abecasis.   

Abstract

Aging-associated neurodegenerative diseases significantly influence the quality of life of affected individuals. Genetic approaches, combined with genomic technology, have provided powerful insights into common late-onset diseases, such as age-related macular degeneration (AMD). Here, we discuss current findings on the genetics of AMD to highlight areas of rapid progress and new challenges. We also attempt to integrate available genetic and biochemical data with cellular pathways involved in aging to formulate an integrated model of AMD pathogenesis.

Entities:  

Mesh：

Year:  2009        PMID： 19405847      PMCID： PMC3469316          DOI： 10.1146/annurev.genom.9.081307.164350

Source DB:  PubMed          Journal:  Annu Rev Genomics Hum Genet        ISSN： 1527-8204            Impact factor:   8.929


  176 in total

1.  The price of sight--ranibizumab, bevacizumab, and the treatment of macular degeneration.

Authors:  Robert Steinbrook
Journal:  N Engl J Med       Date:  2006-10-05       Impact factor: 91.245

Review 2.  Age-related macular degeneration and the immune response: implications for therapy.

Authors:  Robert B Nussenblatt; Frederick Ferris
Journal:  Am J Ophthalmol       Date:  2007-08-15       Impact factor: 5.258

3.  Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

Authors:  Julian Maller; Sarah George; Shaun Purcell; Jes Fagerness; David Altshuler; Mark J Daly; Johanna M Seddon
Journal:  Nat Genet       Date:  2006-08-27       Impact factor: 38.330

4.  CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.

Authors:  Mingyao Li; Pelin Atmaca-Sonmez; Mohammad Othman; Kari E H Branham; Ritu Khanna; Michael S Wade; Yun Li; Liming Liang; Sepideh Zareparsi; Anand Swaroop; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2006-08-27       Impact factor: 38.330

5.  A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.

Authors:  Anne E Hughes; Nick Orr; Hossein Esfandiary; Martha Diaz-Torres; Timothy Goodship; Usha Chakravarthy
Journal:  Nat Genet       Date:  2006-09-24       Impact factor: 38.330

6.  Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration.

Authors:  Johanna M Seddon; Peter J Francis; Sarah George; Dennis W Schultz; Bernard Rosner; Michael L Klein
Journal:  JAMA       Date:  2007-04-25       Impact factor: 56.272

7.  Murine ccl2/cx3cr1 deficiency results in retinal lesions mimicking human age-related macular degeneration.

Authors:  Jingsheng Tuo; Christine M Bojanowski; Min Zhou; Defen Shen; Robert J Ross; Kevin I Rosenberg; D Joshua Cameron; Chunyue Yin; Jeffrey A Kowalak; Zhengping Zhuang; Kang Zhang; Chi-Chao Chan
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-08       Impact factor: 4.799

8.  The challenge of modeling macular degeneration in mice.

Authors:  Alan D Marmorstein; Lihua Y Marmorstein
Journal:  Trends Genet       Date:  2007-03-26       Impact factor: 11.639

9.  Complement C3 variant and the risk of age-related macular degeneration.

Authors:  John R W Yates; Tiina Sepp; Baljinder K Matharu; Jane C Khan; Deborah A Thurlby; Humma Shahid; David G Clayton; Caroline Hayward; Joanne Morgan; Alan F Wright; Ana Maria Armbrecht; Baljean Dhillon; Ian J Deary; Elizabeth Redmond; Alan C Bird; Anthony T Moore
Journal:  N Engl J Med       Date:  2007-07-18       Impact factor: 91.245

10.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Authors: 
Journal:  Nature       Date:  2007-06-07       Impact factor: 49.962
View more
  134 in total

Review 1.  Complement dysregulation in AMD: RPE-Bruch's membrane-choroid.

Authors:  Janet R Sparrow; Keiko Ueda; Jilin Zhou
Journal:  Mol Aspects Med       Date:  2012-04-05

2.  Pathological consequences of long-term mitochondrial oxidative stress in the mouse retinal pigment epithelium.

Authors:  Soo-jung Seo; Mark P Krebs; Haoyu Mao; Kyle Jones; Mandy Conners; Alfred S Lewin
Journal:  Exp Eye Res       Date:  2012-06-08       Impact factor: 3.467

3.  Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Authors:  Wei Chen; Dwight Stambolian; Albert O Edwards; Kari E Branham; Mohammad Othman; Johanna Jakobsdottir; Nirubol Tosakulwong; Margaret A Pericak-Vance; Peter A Campochiaro; Michael L Klein; Perciliz L Tan; Yvette P Conley; Atsuhiro Kanda; Laura Kopplin; Yanming Li; Katherine J Augustaitis; Athanasios J Karoukis; William K Scott; Anita Agarwal; Jaclyn L Kovach; Stephen G Schwartz; Eric A Postel; Matthew Brooks; Keith H Baratz; William L Brown; Alexander J Brucker; Anton Orlin; Gary Brown; Allen Ho; Carl Regillo; Larry Donoso; Lifeng Tian; Brian Kaderli; Dexter Hadley; Stephanie A Hagstrom; Neal S Peachey; Ronald Klein; Barbara E K Klein; Norimoto Gotoh; Kenji Yamashiro; Frederick Ferris Iii; Jesen A Fagerness; Robyn Reynolds; Lindsay A Farrer; Ivana K Kim; Joan W Miller; Marta Cortón; Angel Carracedo; Manuel Sanchez-Salorio; Elizabeth W Pugh; Kimberly F Doheny; Maria Brion; Margaret M Deangelis; Daniel E Weeks; Donald J Zack; Emily Y Chew; John R Heckenlively; Nagahisa Yoshimura; Sudha K Iyengar; Peter J Francis; Nicholas Katsanis; Johanna M Seddon; Jonathan L Haines; Michael B Gorin; Gonçalo R Abecasis; Anand Swaroop
Journal:  Proc Natl Acad Sci U S A       Date:  2010-04-12       Impact factor: 11.205

4.  Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.

Authors:  Juan A Ayala-Haedo; Paul J Gallins; Patrice L Whitehead; Stephen G Schwartz; Jaclyn L Kovach; Eric A Postel; Anita Agarwal; Gaofeng Wang; Jonathan L Haines; Margaret A Pericak-Vance; William K Scott
Journal:  Ann Hum Genet       Date:  2010-03-31       Impact factor: 1.670

Review 5.  Age-related macular degeneration: genetic and environmental factors of disease.

Authors:  Yuhong Chen; Matthew Bedell; Kang Zhang
Journal:  Mol Interv       Date:  2010-10

6.  Does toll-like receptor-3 (TLR-3) have any role in Indian AMD phenotype?

Authors:  Neel Kamal Sharma; Kaushal Sharma; Amod Gupta; Sudesh Prabhakar; Ramandeep Singh; Pawan Kumar Gupta; Akshay Anand
Journal:  Mol Cell Biochem       Date:  2014-03-30       Impact factor: 3.396

7.  Deletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy.

Authors:  Soo-Young Kim; Hyun-Jin Yang; Yi-Sheng Chang; Jung-Woong Kim; Matthew Brooks; Emily Y Chew; Wai T Wong; Robert N Fariss; Rivka A Rachel; Tiziana Cogliati; Haohua Qian; Anand Swaroop
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-08-26       Impact factor: 4.799

8.  Genome-wide Profiling Identifies DNA Methylation Signatures of Aging in Rod Photoreceptors Associated with Alterations in Energy Metabolism.

Authors:  Ximena Corso-Díaz; James Gentry; Ryan Rebernick; Catherine Jaeger; Matthew J Brooks; Freekje van Asten; Keshav Kooragayala; Linn Gieser; Jacob Nellissery; Raul Covian; Tiziana Cogliati; Anupam K Mondal; Ke Jiang; Anand Swaroop
Journal:  Cell Rep       Date:  2020-04-21       Impact factor: 9.423

Review 9.  Age-related macular degeneration: genetics and biology coming together.

Authors:  Lars G Fritsche; Robert N Fariss; Dwight Stambolian; Gonçalo R Abecasis; Christine A Curcio; Anand Swaroop
Journal:  Annu Rev Genomics Hum Genet       Date:  2014-04-16       Impact factor: 8.929

10.  FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression.

Authors:  Leah A Owen; Margaux A Morrison; Jeeyun Ahn; Se Joon Woo; Hajime Sato; Rosann Robinson; Denise J Morgan; Fani Zacharaki; Marina Simeonova; Hironori Uehara; Usha Chakravarthy; Ruth E Hogg; Balamurali K Ambati; Maria Kotoula; Wolfgang Baehr; Neena B Haider; Giuliana Silvestri; Joan W Miller; Evangelia E Tsironi; Lindsay A Farrer; Ivana K Kim; Kyu Hyung Park; Margaret M DeAngelis
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-05-08       Impact factor: 4.799
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.