Evidence map›Paper›PMID 16080115›Full record

ArticleAmerican journal of human genetics2005

Susceptibility genes for age-related maculopathy on chromosome 10q26.

Johanna Jakobsdottir, Yvette P Conley, Daniel E Weeks, Tammy S Mah, Robert E Ferrell, Michael B Gorin

Registry-linked trialOpen access · bronzeAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01115387 (Genetics of Age Related Maculopathy), which is not on this map. Cited by 268 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
268citing papers in PubMed, 8 pooled it
31.6field-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.

NCT01115387 active not recruitingnot on this mapstarted 2011, after this paper: background citation

Genetics of Age Related Maculopathy

TypeobservationalSponsorUniversity of California, Los AngelesRan2011 to 2027Enrolled603ConditionsAge-related Macular Degeneration, Age-related MaculopathyArmsObservational-1, Observational-2
3 · Its place in the literature

Who cites it

268 citing papers in PubMed, 8 syntheses or guidelines pooled it, 462 citations in OpenAlex.

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208 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

6 authors at 2 institutions in 2 countries.

Johanna JakobsdottirDepartment of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Yvette P Conley
Daniel E Weeks
Tammy S Mah
Robert E Ferrell
Michael B Gorin
Eye Center · SAUniversity of Pittsburgh · US

Funding

GENETICS OF AGE-RELATED MACULOPATHYR01EY009859 · NEI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GORIN, MICHAEL B · 1993 to 2011
$11.5M
GENOTYPING FOR LOCATING HUMAN DISEASE GENESN01HG065403 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID L · 1996 to 2000
$1.7M
NEI NIH HHS R01 EY009859NEI NIH HHS R01EY009859NHGRI NIH HHS N01 HG065403
6 · The paper itself

Abstract

On the basis of genomewide linkage studies of families affected with age-related maculopathy (ARM), we previously identified a significant linkage peak on 10q26, which has been independently replicated by several groups. We performed a focused SNP genotyping study of our families and an additional control cohort. We identified a strong association signal overlying three genes, PLEKHA1, LOC387715, and PRSS11. All nonsynonymous SNPs in this critical region were genotyped, yielding a highly significant association (P < .00001) between PLEKHA1/LOC387715 and ARM. Although it is difficult to determine statistically which of these two genes is most important, SNPs in PLEKHA1 are more likely to account for the linkage signal in this region than are SNPs in LOC387715; thus, this gene and its alleles are implicated as an important risk factor for ARM. We also found weaker evidence supporting the possible involvement of the GRK5/RGS10 locus in ARM. These associations appear to be independent of the association of ARM with the Y402H allele of complement factor H, which has previously been reported as a major susceptibility factor for ARM. The combination of our analyses strongly implicates PLEKHA1/LOC387715 as primarily responsible for the evidence of linkage of ARM to the 10q26 locus and as a major contributor to ARM susceptibility. The association of either a single or a double copy of the high-risk allele within the PLEKHA1/LOC387715 locus accounts for an odds ratio of 5.0 (95% confidence interval 3.2-7.9) for ARM and a population attributable risk as high as 57%.

Indexed as

Genetic LinkageCase-Control StudiesChromosome MappingChromosomes, Human, Pair 10Cohort StudiesGene FrequencyGenetic Predisposition to DiseaseHumansIntracellular Signaling Peptides and ProteinsLinkage DisequilibriumMacular DegenerationMembrane ProteinsOdds RatioPedigreePolymorphism, Single NucleotideUnited StatesIntracellular Signaling Peptides and ProteinsMembrane ProteinsPLEKHA1 protein, human

Identifiers

PMID16080115
PMCPMC1226205
OpenAlexW4238550599

What OpenQuestion holds

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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.