Evidence map›Paper›PMID 33369641›Full record

ArticleInvestigative ophthalmology & visual science2020

Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.

Johanna M Seddon, Rafael Widjajahakim, Bernard Rosner

Abstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing 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

27 citing papers in PubMed.

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  13. Rare DysfunctionalOphthalmology science · 2023
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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

3 authors.

Johanna M SeddonDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Rafael WidjajahakimDepartment of Ophthalmology and Visual Sciences, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Bernard RosnerChanning Division of Network Medicine, Harvard Medical School, Boston, Massachusetts, United States.

Funding

ETIOLOGIC STUDIES OF AGE-RELATED MACULAR DEGENERATIONR01EY011309 · NEI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI SEDDON, JOHANNA M · 2003 to 2017
$9.3M
Use of Correlated Data Methods in OphthalmologyR01EY022445 · NEI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2013 to 2025
$4.6M
Rare Genetic Variation in Macular DegenerationR01EY028602 · NEI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI SEDDON, JOHANNA M · 2018 to 2022
$3.2M
NEI NIH HHS R01 EY011309NEI NIH HHS R01 EY022445NEI NIH HHS R01 EY028602
6 · The paper itself

Abstract

Purpose: To determine behavioral and genetic factors associated with incidence and age of progression to advanced age-related macular degeneration (AMD), geographic atrophy (GA), and neovascular disease (NV), and to quantify these effects. Methods: Longitudinal analyses were conducted among 5421 eyes with nonadvanced AMD at baseline in 2976 participants in the Age-Related Eye Disease Study (mean age of 68.8 (±5.0), 56.1% female). Progression was confirmed based on two consecutive visits on the AMD severity scale. Separate analyses for progression and age of progression were performed. All analyses adjusted for correlation between eyes, demographic and behavioral covariates, baseline severity scale, and genetic variants. Results: A higher genetic risk score (GRS) including eight genetic variants was associated with a higher rate of progression to advanced AMD within each baseline severity scale, especially for the highest risk intermediate level AMD category, and smoking further increased this risk. When assessing age when progression to advanced disease occurred, smoking reduced age of onset by 3.9 years (P < 0.001), and higher body mass index (BMI) led to earlier onset by 1.7 years (P = 0.003), with similar results for GA and NV. Genetic variants associated with earlier age of progression were CFH R1201C (4.3 years), C3 K155Q (2.15 years), and ARMS2/HTRA1 (0.8 years per allele). Conclusions: Rare variants in the complement pathway and a common risk allele in ARMS2/HTRA1, smoking, and higher BMI can lead to as much as 11.5 additional years of disease and treatment burden. Closer adherence to healthy lifestyles could reduce years of visual impairment.

Indexed as

AgedAge of OnsetBody Mass IndexDisease ProgressionFemaleGenetic Predisposition to DiseaseGenetic VariationHigh-Temperature Requirement A Serine Peptidase 1HumansIncidenceLongitudinal StudiesMacular DegenerationMaleProteinsRisk FactorsSeverity of Illness IndexARMS2 protein, humanHigh-Temperature Requirement A Serine Peptidase 1HTRA1 protein, humanProteins

Identifiers

PMID33369641
PMCPMC7774056

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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.