Evidence map›Paper›PMID 22253316›Full record

SynthesisInternational journal of epidemiology2012

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

Reecha Sofat, Juan P Casas, Andrew R Webster, Alan C Bird, Samantha S Mann, John R W Yates, Anthony T Moore, Tiina Sepp, Valentina Cipriani, Catey Bunce and 43 more

Registry-linked trialOpen access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in International journal of epidemiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02248324 (A Multicenter Study on the Investigation of Previously Verified Leading Gene Polymorphisms Related to Age-related Macular Degeneration in Turkish Population), which is not on this map. Cited by 50 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 1 pooled it
11.0field-weighted citation impact, top 1% 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.

NCT02248324 unknown statusnot on this map

A Multicenter Study on the Investigation of Previously Verified Leading Gene Polymorphisms Related to Age-related Macular Degeneration in Turkish Population

TypeobservationalSponsorKocatepe UniversityRan2012 to 2017Enrolled5,000ConditionsAge-related Macular Degeneration
3 · Its place in the literature

Who cites it

50 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
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  5. Review
  6. Review
  7. Article
  8. Future perspectives for treating patients with geographic atrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023
    Review
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  16. A Splice Variant inCells · 2021
    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

53 authors at 20 institutions in 14 countries.

Reecha SofatCentre for Clinical Pharmacology, Department of Medicine, University College London, London, UK.
Juan P Casas
Andrew R Webster
Alan C Bird
Samantha S Mann
John R W Yates
Anthony T Moore
Tiina Sepp
Valentina Cipriani
Catey Bunce
Jane C Khan
Humma Shahid
Anand Swaroop
Gonçalo Abecasis
Kari E H Branham
Sepideh Zareparsi
Arthur A Bergen
Caroline C W Klaver
Dominique C Baas
Kang Zhang
Yuhong Chen
Daniel Gibbs
Bernhard H F Weber
Claudia N Keilhauer
Lars G Fritsche
Andrew Lotery
Angela J Cree
Helen L Griffiths
Shomi S Bhattacharya
Li L Chen
Sharon A Jenkins
Tunde Peto
Mark Lathrop
Thierry Leveillard
Michael B Gorin
Daniel E Weeks
Maria Carolina Ortube
Robert E Ferrell
Johanna Jakobsdottir
Yvette P Conley
Mati Rahu
Johan H Seland
Gisele Soubrane
Fotis Topouzis
Jesus Vioque
Laura Tomazzoli
Ian Young
John Whittaker
Usha Chakravarthy
Paulus T V M de Jong
Liam Smeeth
Astrid Fletcher
Aroon D Hingorani
Moorfields Eye Hospital · GBLondon School of Hygiene & Tropical Medicine · GBSouthampton General Hospital · GBUniversity of Utah · USDoheny Eye Institute · USInstitute of Human Genetics · PLNetherlands Institute for Neuroscience · NLUniversity College London · GBUniversity of Cambridge · GBUniversity of Michigan · USUniversity of Pittsburgh · USAHEPA University Hospital · GRAmsterdam UMC Location University of Amsterdam · NLCentre National de la Recherche Scientifique · FRCentre Ophtalmologique d'Imagerie et de Laser · FRFondation Jean Dausset-CEPH · FRHealth Promotion Agency · NZHe Eye Hospital · CNMRC Epidemiology Unit · GBNational Institute for Health Development · EE

Funding

GENETICS OF AGE-RELATED MACULOPATHYR01EY009859 · NEI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GORIN, MICHAEL B · 1993 to 2011
$11.5M
Genetic susceptibility and common multi-factorial retinal/macular diseasesZIAEY000475 · NEI · NATIONAL EYE INSTITUTE · PI SWAROOP, ANAND · 2009 to 2014
$6.9M
Genetic Variations in Age-related Macular DegenerationR01EY016862 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HECKENLIVELY, JOHN R · 2006 to 2010
$2.1M
British Heart Foundation FS 05/125British Heart Foundation FS/07/011British Heart Foundation PG/09/022/26739Medical Research Council G0000067Medical Research Council G0000682Medical Research Council G0601354NEI NIH HHS EY-016862NEI NIH HHS R01 EY009859NEI NIH HHS R01 EY016862NEI NIH HHS R01 EY9859Wellcome Trust 098504
6 · The paper itself

Abstract

backgroundVariation in the complement factor H gene (CFH) is associated with risk of late age-related macular degeneration (AMD). Previous studies have been case-control studies in populations of European ancestry with little differentiation in AMD subtype, and insufficient power to confirm or refute effect modification by smoking.

methodsTo precisely quantify the association of the single nucleotide polymorphism (SNP rs1061170, 'Y402H') with risk of AMD among studies with differing study designs, participant ancestry and AMD grade and to investigate effect modification by smoking, we report two unpublished genetic association studies (n = 2759) combined with data from 24 published studies (26 studies, 26,494 individuals, including 14,174 cases of AMD) of European ancestry, 10 of which provided individual-level data used to test gene-smoking interaction; and 16 published studies from non-European ancestry.

resultsIn individuals of European ancestry, there was a significant association between Y402H and late-AMD with a per-allele odds ratio (OR) of 2.27 [95% confidence interval (CI) 2.10-2.45; P = 1.1 x 10(-161)]. There was no evidence of effect modification by smoking (P = 0.75). The frequency of Y402H varied by ancestral origin and the association with AMD in non-Europeans was less clear, limited by paucity of studies.

conclusionThe Y402H variant confers a 2-fold higher risk of late-AMD per copy in individuals of European descent. This was stable to stratification by study design and AMD classification and not modified by smoking. The lack of association in non-Europeans requires further verification. These findings are of direct relevance for disease prediction. New research is needed to ascertain if differences in circulating levels, expression or activity of factor H protein explain the genetic association.

Indexed as

AgedAged, 80 and overCase-Control StudiesComplement Factor HFemaleGenetic Predisposition to DiseaseGenotypeHumansMacular DegenerationMalePolymorphism, Single NucleotideProspective StudiesSmokingWhite PeopleComplement Factor H

Identifiers

PMID22253316
PMCPMC3304526
OpenAlexW2097001347

What OpenQuestion holds

Textmetadata
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Registered trials

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.