Evidence map›Paper›PMID 15168325›Full record

ArticleAmerican journal of human genetics2004

Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.

Daniel E Weeks, Yvette P Conley, Hui-Ju Tsai, Tammy S Mah, Silke Schmidt, Eric A Postel, Anita Agarwal, Jonathan L Haines, Margaret A Pericak-Vance, Philip J Rosenfeld and 6 more

Registry-linked trialAbstract read
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In one paragraph

Article in American journal of human genetics, 2004. 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 74 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed, 2 pooled it
–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.

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

74 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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14 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

16 authors.

Daniel E WeeksDepartment of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA.
Yvette P Conley
Hui-Ju Tsai
Tammy S Mah
Silke Schmidt
Eric A Postel
Anita Agarwal
Jonathan L Haines
Margaret A Pericak-Vance
Philip J Rosenfeld
T Otis Paul
Andrew W Eller
Lawrence S Morse
J P Dailey
Robert E Ferrell
Michael B Gorin

Funding

GENETICS OF AGE-RELATED MACULOPATHYR01EY009859 · NEI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GORIN, MICHAEL B · 1993 to 2011
$11.5M
MAMMALIAN GENOTYPING SERVICEN01HV048141 · HV · MARSHFIELD CLINIC RESEARCH FOUNDATION · PI WEBER, JAMES L. · 1994 to 2000
$3.1M
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 R01-EY09859NHGRI NIH HHS N01 HG065403NHGRI NIH HHS N01-HG-48141NHLBI NIH HHS N01 HV048141
6 · The paper itself

Abstract

Age-related maculopathy (ARM), or age-related macular degeneration, is one of the most common causes of visual impairment in the elderly population of developed nations. In a combined analysis of two previous genomewide scans that included 391 families, containing up to 452 affected sib pairs, we found linkage evidence in four regions: 1q31, 9p13, 10q26, and 17q25. We now have added a third set of families and have performed an integrated analysis incorporating 530 families and up to 736 affected sib pairs. Under three diagnostic models, we have conducted linkage analyses using parametric (heterogeneity LOD [HLOD] scores under an autosomal dominant model) and nonparametric (Sall statistic) methods. There is ongoing evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. If we treat the third set of families as a replication set, then two regions (10q26 and 17q25) are replicated, with LOD scores >1.0. If we pool all our data together, then four regions (1q31, 2q14.3, 10q26, and 17q25) show HLOD or Sall scores > or =2.0. Within the 1q31 region, we observed an HLOD of 2.72 (genomewide P=.061) under our least stringent diagnostic model, whereas the 17q25 region contained a maximal HLOD of 3.53 (genomewide P=.007) under our intermediate diagnostic model. We have evaluated our results with respect to the findings from several new independent genomewide linkage studies and also have completed ordered subset analyses (OSAs) with apolipoprotein E alleles, smoking history, and age at onset as stratifying covariates. The OSAs generate the interesting hypothesis that the effect of smoking on the risk of ARM is accentuated by a gene in the 10q26 region--a region implicated by four other studies.

Indexed as

Chromosomes, Human, Pair 1Chromosomes, Human, Pair 10Chromosomes, Human, Pair 17Gene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansLod ScoreMacular Degeneration

Identifiers

PMID15168325
PMCPMC1216053

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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.