Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.

JAMA Ophthalmology
Nicole T M SaksensAnneke I den Hollander

Abstract

Rare variants in the complement genes CFH, CFI, C9, and C3 have been found to be highly associated with age-related macular degeneration (AMD); however, the effect on clinical characteristics and familial segregation by these variants is lacking. To determine the contribution of rare CFH Arg1210Cys, CFI Gly119Arg, C9 Pro167Ser, and C3 Lys155Gln variants in the development of AMD in 22 multiplex families and to describe clinical differences in carriers vs noncarriers in these families and a large case-control cohort. This retrospective case-control study included 114 affected and 60 unaffected members of 22 multiplex families with AMD as well as 1589 unrelated patients with AMD and 1386 unrelated control individuals enrolled in the European Genetic Database (EUGENDA). Patients were recruited from March 29, 2006, to April 26, 2013, and data were collected from April 20, 2012, to May 7, 2014. All participants underwent an extensive ophthalmic examination and completed a questionnaire. Venous blood samples were obtained from all participants for genetic analysis, including whole-exome sequencing and measurements of complement activation. Data were analyzed from September 23, 2014, to November 4, 2015. Differences between carriers a...Continue Reading

Citations

Aug 6, 2016·Mediators of Inflammation·Urs NydeggerThomas Bodmer
Oct 27, 2016·Immunological Reviews·Daniel RicklinJohn D Lambris
May 10, 2017·Human Molecular Genetics·Robert F MullinsAndrew J Lotery
Jun 4, 2018·Investigative Ophthalmology & Visual Science·Enrico BorrelliLeonardo Mastropasqua
Dec 1, 2017·Retina·Elon H C van DijkCamiel J F Boon
Feb 7, 2019·Molecular Genetics & Genomic Medicine·Rosa L SchellevisAnneke I den Hollander
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Oct 10, 2018·Retina·Danial MohabatiSuzanne Yzer
Apr 5, 2020·Human Molecular Genetics·Rinki RatnapriyaAnneke I den Hollander
Jul 3, 2019·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Marco NassisiSrinivas R Sadda
Jun 9, 2020·Human Molecular Genetics·Sarah de JongAnneke I den Hollander
Dec 5, 2020·Scientific Reports·Enrico BorrelliGiuseppe Querques
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Jun 2, 2021·Translational Vision Science & Technology·Luigi Di PernaFrancesca Simonelli
Aug 10, 2021·Journal of Immunology Research·Shuqi QinYanling Wang

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