FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2238016187> ?p ?o ?g. }

• W2238016187 endingPage "287" @default.
• W2238016187 startingPage "287" @default.
• W2238016187 abstract "<h3>Importance</h3> Rare variants in the complement genes<i>CFH</i>,<i>CFI</i>,<i>C9</i>, and<i>C3</i>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. <h3>Objectives</h3> To determine the contribution of rare<i>CFH</i>Arg1210Cys,<i>CFI</i>Gly119Arg,<i>C9</i>Pro167Ser, and<i>C3</i>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. <h3>Design, Setting, and Participants</h3> 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. <h3>Main Outcomes and Measures</h3> Differences between carriers and noncarriers of rare variants in age at onset of symptoms, the family history of AMD, complement activation levels (C3d:C3 ratio), the presence of reticular pseudodrusen, and AMD phenotype. <h3>Results</h3> Among the 114 affected and 60 unaffected members of 22 multiplex families with AMD and the 1598 unrelated patients with AMD and 1386 controls in the EUGENDA cohort who underwent analysis, the presence of the<i>CFI</i>Gly119Arg,<i>C9</i>Pro167Ser, or<i>C3</i>Lys155Gln variant was confirmed in 18 individuals in 5 families but did not completely segregate with the disease. In the case-control cohort, the 91 affected carriers of these variants were younger at symptom onset (mean [SD] age, 67.4 [8.5] vs 71.3 [8.9] years;<i>P</i> = .01) and more often reported a positive family history (35 of 79 [44.3%] vs 367 of 1201 [30.6%];<i>P</i> = .008) compared with the 1498 noncarriers. Patients with advanced atrophic AMD carried these rare variants more frequently than patients with neovascular AMD (11 of 93 [11.8%] vs 40 of 835 [4.8%];<i>P</i> = .04). <h3>Conclusions and Relevance</h3> Previously reported rare variants do not completely segregate within families with AMD. However, patients carrying these rare variants differ clinically from noncarriers by an earlier age at symptom onset, higher prevalence of a positive family history, and AMD phenotype. These results suggest that genetic tests for AMD might be designed to detect common and rare genetic variants, especially in families, because rare variants contribute to the age at onset and progression of the disease." @default.
• W2238016187 created "2016-06-24" @default.
• W2238016187 creator A5002830944 @default.
• W2238016187 creator A5019133165 @default.
• W2238016187 creator A5034780611 @default.
• W2238016187 creator A5049656883 @default.
• W2238016187 creator A5054188308 @default.
• W2238016187 creator A5057862578 @default.
• W2238016187 creator A5060480065 @default.
• W2238016187 creator A5066789689 @default.
• W2238016187 creator A5077993009 @default.
• W2238016187 creator A5086926273 @default.
• W2238016187 date "2016-03-01" @default.
• W2238016187 modified "2023-10-16" @default.
• W2238016187 title "Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration" @default.
• W2238016187 cites W1487528435 @default.
• W2238016187 cites W1593071308 @default.
• W2238016187 cites W1809957428 @default.
• W2238016187 cites W1965393007 @default.
• W2238016187 cites W1972413515 @default.
• W2238016187 cites W1984068087 @default.
• W2238016187 cites W1984944701 @default.
• W2238016187 cites W1987637624 @default.
• W2238016187 cites W1990057691 @default.
• W2238016187 cites W1993904263 @default.
• W2238016187 cites W1994797655 @default.
• W2238016187 cites W1997761753 @default.
• W2238016187 cites W2001661375 @default.
• W2238016187 cites W2003765431 @default.
• W2238016187 cites W2007634342 @default.
• W2238016187 cites W2021045531 @default.
• W2238016187 cites W2024335384 @default.
• W2238016187 cites W2035310463 @default.
• W2238016187 cites W2051467750 @default.
• W2238016187 cites W2060767100 @default.
• W2238016187 cites W2063977695 @default.
• W2238016187 cites W2071538148 @default.
• W2238016187 cites W2090265886 @default.
• W2238016187 cites W2096141126 @default.
• W2238016187 cites W2097013149 @default.
• W2238016187 cites W2099328768 @default.
• W2238016187 cites W2099433064 @default.
• W2238016187 cites W2103441770 @default.
• W2238016187 cites W2103735661 @default.
• W2238016187 cites W2109775329 @default.
• W2238016187 cites W2113784410 @default.
• W2238016187 cites W2119180969 @default.
• W2238016187 cites W2121855384 @default.
• W2238016187 cites W2127358429 @default.
• W2238016187 cites W2132851481 @default.
• W2238016187 cites W2133729207 @default.
• W2238016187 cites W2144588016 @default.
• W2238016187 cites W2220828898 @default.
• W2238016187 cites W2431838715 @default.
• W2238016187 cites W2497721881 @default.
• W2238016187 cites W65260506 @default.
• W2238016187 cites W2047732059 @default.
• W2238016187 cites W2053644488 @default.
• W2238016187 doi "https://doi.org/10.1001/jamaophthalmol.2015.5592" @default.
• W2238016187 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26767664" @default.
• W2238016187 hasPublicationYear "2016" @default.
• W2238016187 type Work @default.
• W2238016187 sameAs 2238016187 @default.
• W2238016187 citedByCount "50" @default.
• W2238016187 countsByYear W22380161872016 @default.
• W2238016187 countsByYear W22380161872017 @default.
• W2238016187 countsByYear W22380161872018 @default.
• W2238016187 countsByYear W22380161872019 @default.
• W2238016187 countsByYear W22380161872020 @default.
• W2238016187 countsByYear W22380161872021 @default.
• W2238016187 countsByYear W22380161872022 @default.
• W2238016187 countsByYear W22380161872023 @default.
• W2238016187 crossrefType "journal-article" @default.
• W2238016187 hasAuthorship W2238016187A5002830944 @default.
• W2238016187 hasAuthorship W2238016187A5019133165 @default.
• W2238016187 hasAuthorship W2238016187A5034780611 @default.
• W2238016187 hasAuthorship W2238016187A5049656883 @default.
• W2238016187 hasAuthorship W2238016187A5054188308 @default.
• W2238016187 hasAuthorship W2238016187A5057862578 @default.
• W2238016187 hasAuthorship W2238016187A5060480065 @default.
• W2238016187 hasAuthorship W2238016187A5066789689 @default.
• W2238016187 hasAuthorship W2238016187A5077993009 @default.
• W2238016187 hasAuthorship W2238016187A5086926273 @default.
• W2238016187 hasBestOaLocation W22380161871 @default.
• W2238016187 hasConcept C104317684 @default.
• W2238016187 hasConcept C111684460 @default.
• W2238016187 hasConcept C118487528 @default.
• W2238016187 hasConcept C120599132 @default.
• W2238016187 hasConcept C126322002 @default.
• W2238016187 hasConcept C127716648 @default.
• W2238016187 hasConcept C14356644 @default.
• W2238016187 hasConcept C159654299 @default.
• W2238016187 hasConcept C16671776 @default.
• W2238016187 hasConcept C167135981 @default.
• W2238016187 hasConcept C187212893 @default.
• W2238016187 hasConcept C203014093 @default.
• W2238016187 hasConcept C2776403814 @default.
• W2238016187 hasConcept C36823959 @default.

• next