Evidence map›Paper›PMID 37153444›Full record

ArticleiScience2023

Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration.

Lina Zelinger, Tammy M Martin, Jayshree Advani, Laura Campello, Milton A English, Alan Kwong, Claire Weber, Jennifer Maykoski, Yuri V Sergeev, Robert Fariss and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Review
  2. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Lina ZelingerNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Tammy M MartinCasey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, OR, USA.
Jayshree AdvaniNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Laura CampelloNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Milton A EnglishNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Alan KwongDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Claire WeberDivision of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Jennifer MaykoskiCasey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, OR, USA.
Yuri V SergeevOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Robert FarissBiological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Emily Y ChewDivision of Epidemiology and Clinical Applications, Clinical Trials Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Michael L KleinCasey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, OR, USA.
Anand SwaroopNeurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

Funding

Oregon Clinical and Translational Research Institute - The National COVID Cohort Collaborative (N3C)UL1TR002369 · NCATS · OREGON HEALTH & SCIENCE UNIVERSITY · PI Cynthia D Morris, Christopher G. Slatore · 2017 to 2026
$78.4M
Mechanisms, modeling and therapies of retinal and macular neurodegenerationZIAEY000546 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2015 to 2025
$36.3M
Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI Kate E Keller · 1995 to 2026
$19.4M
Proteins From Hereditary Eye Diseases: In-silico and Experimental StudiesZIAEY000476 · NEI · NATIONAL EYE INSTITUTE · PI SERGEEV, YURI · 2009 to 2025
$16.8M
Imaging Core UnitZICEY000459 · NEI · NATIONAL EYE INSTITUTE · PI FARISS, ROBERT · 2009 to 2025
$13.1M
A joint linkage/association strategy to interrogate AMD genetic susceptibilityR01EY021532 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI KLEIN, MICHAEL L · 2011 to 2014
$2.8M
Intramural NIH HHS ZIA EY000546NCATS NIH HHS UL1 TR002369NEI NIH HHS P30 EY010572NEI NIH HHS R01 EY021532
6 · The paper itself

Abstract

Genome-wide association studies have uncovered 52 independent common and rare variants across 34 genetic loci, which influence susceptibility to age related macular degeneration (AMD). Of the 5 AMD-associated complement genes, complement factor H (CFH) and CFI exhibit a significant rare variant burden implicating a major contribution of the complement pathway to disease pathology. However, the efforts for developing AMD therapy have been challenging as of yet. Here, we report the identification of ultra-rare variants in complement factors 8A and 8B, two components of the terminal complement membrane attack complex (MAC), by whole exome sequencing of a cohort of AMD families. The identified C8 variants impact local interactions among proteins of C8 triplex

Indexed as

GeneticsMolecular biologyMolecular GeneticsMolecular interactionMolecular Structure

Identifiers

PMID37153444
PMCPMC10156737

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.