Literature DB >> 33848002

AMD Genetics: Methods and Analyses for Association, Progression, and Prediction.

Qi Yan1, Ying Ding2, Daniel E Weeks2,3, Wei Chen4,5,6.   

Abstract

Age-related macular degeneration (AMD) is a multifactorial neurodegenerative disease, which is a leading cause of vision loss among the elderly in the developed countries. As one of the most successful examples of genome-wide association study (GWAS), a large number of genetic studies have been conducted to explore the genetic basis for AMD and its progression, of which over 30 loci were identified and confirmed. In this chapter, we review the recent development and findings of GWAS for AMD risk and progression. Then, we present emerging methods and models for predicting AMD development or its progression using large-scale genetic data. Finally, we discuss a set of novel statistical and analytical methods that were recently developed to tackle the challenges such as analyzing bilateral correlated eye-level outcomes that are subject to censoring with high-dimensional genetic data. Future directions for analytical studies of AMD genetics are also proposed.

Entities:  

Keywords:  AMD genetics; GWAS; Machine learning; Prediction; Progression; Statistical methods

Year:  2021        PMID: 33848002     DOI: 10.1007/978-3-030-66014-7_7

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  49 in total

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Journal:  J Med       Date:  1992

2.  The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences.

Authors:  Johanna M Seddon; Jennifer Cote; William F Page; Steven H Aggen; Michael C Neale
Journal:  Arch Ophthalmol       Date:  2005-03

3.  Meta-analysis of genome scans of age-related macular degeneration.

Authors:  Sheila A Fisher; Goncalo R Abecasis; Beverly M Yashar; Sepideh Zareparsi; Anand Swaroop; Sudha K Iyengar; Barbara E K Klein; Ronald Klein; Kristine E Lee; Jacek Majewski; Dennis W Schultz; Michael L Klein; Johanna M Seddon; Susan L Santangelo; Daniel E Weeks; Yvette P Conley; Tammy S Mah; Silke Schmidt; Jonathan L Haines; Margaret A Pericak-Vance; Michael B Gorin; Heidi L Schulz; Fabio Pardi; Cathryn M Lewis; Bernhard H F Weber
Journal:  Hum Mol Genet       Date:  2005-06-29       Impact factor: 6.150

4.  Variation near complement factor I is associated with risk of advanced AMD.

Authors:  Jesen A Fagerness; Julian B Maller; Benjamin M Neale; Robyn C Reynolds; Mark J Daly; Johanna M Seddon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

Review 5.  Age-related macular degeneration.

Authors:  Rama D Jager; William F Mieler; Joan W Miller
Journal:  N Engl J Med       Date:  2008-06-12       Impact factor: 91.245

6.  Familial aggregation of age-related maculopathy.

Authors:  J M Seddon; U A Ajani; B D Mitchell
Journal:  Am J Ophthalmol       Date:  1997-02       Impact factor: 5.258

7.  A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration.

Authors:  Zhenglin Yang; Nicola J Camp; Hui Sun; Zongzhong Tong; Daniel Gibbs; D Joshua Cameron; Haoyu Chen; Yu Zhao; Erik Pearson; Xi Li; Jeremy Chien; Andrew Dewan; Jennifer Harmon; Paul S Bernstein; Viji Shridhar; Norman A Zabriskie; Josephine Hoh; Kimberly Howes; Kang Zhang
Journal:  Science       Date:  2006-10-19       Impact factor: 47.728

Review 8.  Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.

Authors:  Anand Swaroop; Emily Y Chew; Catherine Bowes Rickman; Gonçalo R Abecasis
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929

9.  Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

Authors:  Bert Gold; Joanna E Merriam; Jana Zernant; Lisa S Hancox; Andrew J Taiber; Karen Gehrs; Kevin Cramer; Julia Neel; Julie Bergeron; Gaetano R Barile; R Theodore Smith; Gregory S Hageman; Michael Dean; Rando Allikmets
Journal:  Nat Genet       Date:  2006-03-05       Impact factor: 38.330

10.  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

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  2 in total

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Authors:  Guoda Zazeckyte; Greta Gedvilaite; Alvita Vilkeviciute; Loresa Kriauciuniene; Vilma Jurate Balciuniene; Ruta Mockute; Rasa Liutkeviciene
Journal:  Life (Basel)       Date:  2022-06-21

2.  Sodium-Iodate Injection Can Replicate Retinal Degenerative Disease Stages in Pigmented Mice and Rats: Non-Invasive Follow-Up Using OCT and ERG.

Authors:  Céline Koster; Koen T van den Hurk; Jacoline B Ten Brink; Colby F Lewallen; Boris V Stanzel; Kapil Bharti; Arthur A Bergen
Journal:  Int J Mol Sci       Date:  2022-03-08       Impact factor: 5.923

  2 in total

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