Evidence map›Paper›PMID 16518403›Full record

ArticleNature genetics2006

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

Bert Gold, Joanna E Merriam, Jana Zernant, Lisa S Hancox, Andrew J Taiber, Karen Gehrs, Kevin Cramer, Julia Neel, Julie Bergeron, Gaetano R Barile and 5 more

Abstract read
In one paragraph

Article in Nature genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 539 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
539citing papers in PubMed, 2 pooled it
78.4field-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.

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

539 citing papers in PubMed, 2 syntheses or guidelines pooled it, 1,070 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Trial
  5. Leukocytes and age-related macular degeneration.European journal of epidemiology · 2026
    Article
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  19. Dynamic changes in mRNA isoform usage during human retinal development.bioRxiv : the preprint server for biology · 2025
    Article
  20. Review

479 more citing papers are in PubMed but not listed here.

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

15 authors at 4 institutions in 1 country.

Bert GoldLaboratory of Genomic Diversity, National Cancer Institute, Frederick, Maryland 21702, USA.
Joanna E Merriam
Jana Zernant
Lisa S Hancox
Andrew J Taiber
Karen Gehrs
Kevin Cramer
Julia Neel
Julie Bergeron
Gaetano R Barile
R Theodore Smith
AMD Genetics Clinical Study Group
Gregory S Hageman
Michael Dean
Rando Allikmets
Columbia University · USUniversity of Iowa · USNational Cancer Institute · USScience Applications International Corporation (United States) · US

Funding

Genetic Variation in Age-Related Macular DegenerationR01EY013435 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2001 to 2014
$7.7M
Validated Autofluorescence in Age-Related Macular DegenerationR01EY015520 · NEI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI SMITH, ROLAND THEODORE · 2005 to 2018
$6.0M
AGE-RELATED MACULOPATHY: CELLULAR AND MOLECULAR ANALYSESR01EY011515 · NEI · UNIVERSITY OF IOWA · PI HAGEMAN, GREGORY S · 1996 to 2005
$3.2M
Single Nucleotide Polymorphisms in Cancer Related GenesZ01BC005652 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI DEAN, MICHAEL · 1996 to 2008
$1.9M
Intramural NIH HHSNCI NIH HHS N01-CO-124000NEI NIH HHS EY11515NEI NIH HHS EY13435NEI NIH HHS R01 EY011515NEI NIH HHS R01 EY013435NEI NIH HHS R01 EY015520
6 · The paper itself

Abstract

Age-related macular degeneration (AMD) is the most common form of irreversible blindness in developed countries. Variants in the factor H gene (CFH, also known as HF1), which encodes a major inhibitor of the alternative complement pathway, are associated with the risk for developing AMD. Here we test the hypothesis that variation in genes encoding other regulatory proteins of the same pathway is associated with AMD. We screened factor B (BF) and complement component 2 (C2) genes, located in the major histocompatibility complex class III region, for genetic variation in two independent cohorts comprising approximately 900 individuals with AMD and approximately 400 matched controls. Haplotype analyses identify a statistically significant common risk haplotype (H1) and two protective haplotypes. The L9H variant of BF and the E318D variant of C2 (H10), as well as a variant in intron 10 of C2 and the R32Q variant of BF (H7), confer a significantly reduced risk of AMD (odds ratio = 0.45 and 0.36, respectively). Combined analysis of the C2 and BF haplotypes and CFH variants shows that variation in the two loci can predict the clinical outcome in 74% of the affected individuals and 56% of the controls. These data expand and refine our understanding of the genetic risk for AMD.

Indexed as

AgedAged, 80 and overAgingCase-Control StudiesChromatography, High Pressure LiquidCohort StudiesComplement C2Complement Factor BHaplotypesHumansImmunohistochemistryMacular DegenerationMolecular Sequence DataComplement C2Complement Factor B

Identifiers

PMID16518403
PMCPMC2921703
OpenAlexW1997288094

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.