Evidence map›Paper›PMID 36275200›Full record

ArticleOphthalmology science2023

Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.

Tianxiao Huan, Shun-Yun Cheng, Bo Tian, Claudio Punzo, Haijiang Lin, Mark Daly, Johanna M Seddon

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmology science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.4field-weighted citation impact, top 20% of its field
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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Observational
  3. Review
  4. Article
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

7 authors at 2 institutions in 1 country.

Tianxiao HuanDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts.
Shun-Yun ChengDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts.
Bo TianDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts.
Claudio PunzoDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts.
Haijiang LinDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts.
Mark DalyMassachusetts General Hospital and Broad Institute, Cambridge, Massachusetts.
Johanna M SeddonDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts.
University of Massachusetts Chan Medical School · USBroad Institute · US

Funding

ETIOLOGIC STUDIES OF AGE-RELATED MACULAR DEGENERATIONR01EY011309 · NEI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI SEDDON, JOHANNA M · 2003 to 2017
$9.3M
Rare Genetic Variation in Macular DegenerationR01EY028602 · NEI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI SEDDON, JOHANNA M · 2018 to 2022
$3.2M
Delaying Cone Death in Retinitis PigmentosaR01EY023570 · NEI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI PUNZO, CLAUDIO · 2013 to 2017
$2.1M
NEI NIH HHS R01 EY011309NEI NIH HHS R01 EY023570NEI NIH HHS R01 EY028602
6 · The paper itself

Abstract

Purpose: To select individuals and families with a low genetic burden for age-related macular degeneration (AMD), to inform the clinical diagnosis of macular disorders, and to find novel genetic variants associated with maculopathies. Design: Genetic association study based on targeted and whole-exome sequencing. Participants: A total of 758 subjects (481 individuals with maculopathy and 277 controls), including 316 individuals in 72 families. Methods: We focused on 150 genes involved in the complement, coagulation, and inflammatory pathways. Single-variant tests were performed on 7755 variants shared among ≥ 5 subjects using logistic regression. Gene-based tests were used to evaluate aggregate effects from rare and low-frequency variants (at minor allele frequency [MAF] ≤ 5% or ≤ 1%) in a gene using burden tests. For families whose affected members had a low burden of genetic risk based on known common and rare variants related to AMD, we searched for rare variants (MAF < 0.001) whose risk alleles occurred in ≥ 80% of affected individuals but not in controls. Immunohistochemistry was performed to determine the protein expression of a novel gene ( Main Outcome Measures: Genotypes and phenotypes of macular degeneration. Results: We confirmed the association of a synonymous variant in Conclusions: New missense rare variants in the genes

Indexed as

AMD, age-related macular degenerationATP, adenosine triphosphateC3, complement component 3C9, complement component 9CADD, Combined Annotation Dependent DepletionCFH, complement factor HCFI, complement factor ICoagulation pathway, Immune pathwaysENG, endoglinF2RL2, coagulation factor II thrombin receptor-like 2FANTOM5, functional annotation of the mammalian genomeGS, glutamine synthetaseGWAS, genome-wide association studiesMacular degenerationMaculopathyMAF, minor allele frequencyPECAM1, Platelet Endothelial Cell Adhesion Molecule 1PRS, polygenic risk scoreSKAT, sequence kernel association testingSNP, single nucleotide polymorphismTargeted sequencingTPM, tags per millionWES, whole-exome sequencingWhole-exome sequencing

Identifiers

PMID36275200
PMCPMC9574715
OpenAlexW4290635171

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.