Evidence map›Paper›PMID 12616399›Full record

ArticleHuman genetics2003

A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma.

Barbara Nemesure, Xiaodong Jiao, Qimei He, M Cristina Leske, Suh-Yuh Wu, Anselm Hennis, Nancy Mendell, Joy Redman, Henri-Jean Garchon, Richa Agarwala and 3 more

Abstract read
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In one paragraph

Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
8.9field-weighted citation impact, top 2% 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

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.European journal of human genetics : EJHG · 2011
    Article
  9. Complex genetic mechanisms in glaucoma: an overview.Indian journal of ophthalmology · 2011
    Review
  10. Article
  11. Glaucoma: genes, phenotypes, and new directions for therapy.The Journal of clinical investigation · 2010
    Review
  12. Review
  13. Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados.Proceedings of the National Academy of Sciences of the United States of America · 2009
    Article
  14. Null mutations in LTBP2 cause primary congenital glaucoma.American journal of human genetics · 2009
    Article
  15. Progress toward personalized medicine for glaucoma.Expert review of ophthalmology · 2009
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Inherited, familial and sporadic primary open-angle glaucoma.Journal of the National Medical Association · 2007
    Article
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

13 authors at 6 institutions in 3 countries.

Barbara NemesureDepartment of Preventive Medicine, School of Medicine, Stony Brook University, New York 11794-8036, USA. bnemesure@notes.cc.sunysb.edu
Xiaodong Jiao
Qimei He
M Cristina Leske
Suh-Yuh Wu
Anselm Hennis
Nancy Mendell
Joy Redman
Henri-Jean Garchon
Richa Agarwala
Alejandro A Schäffer
Fielding Hejtmancik
Barbados Family Study Group
Stony Brook University · USNational Institutes of Health · USInserm · FRJohns Hopkins Medicine · USNational Eye Institute · USUniversity of the West Indies · BB

Funding

Case Studies In GeneticsZIALM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2009 to 2019
$4.6M
Case Studies In GeneticsZ01LM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2002 to 2008
$452k
6 · The paper itself

Abstract

Primary open-angle glaucoma (POAG) is characterized by damage to the optic nerve with associated loss of vision. Six named genetic loci have been identified as contributing to POAG susceptibility by genetic linkage analysis of mostly Caucasian families, and two of the six causative genes have been identified. The Barbados Family Study of Open-Angle Glaucoma (BFSG) was designed to evaluate the genetic component of POAG in a population of African descent. A genome-wide scan was performed on 1327 individuals from 146 families in Barbados, West Indies. Linkage results were based on models and parameter estimates derived from a segregation analysis of these families, and on model-free analyses. Two-point LOD scores >1.0 were identified on chromosomes 1, 2, 9, 10, 11, and 14, with increased multipoint LOD scores being found on chromosomes 2, 10, and 14. Fine mapping was subsequently carried out and indicated that POAG may be linked to intervals on chromosome 2q between D2S2188 and D2S2178 and chromosome 10p between D10S1477 and D10S601. Heterogeneity testing strongly supports linkage for glaucoma to at least one of these regions and suggests possible linkages to both. Although TIGR/myocilin and optineurin mutations have been shown to be causally linked to POAG in other populations, findings from this study do not support either of these as causative genes in an Afro-Caribbean population known to have relatively high rates of POAG.

Indexed as

Genetic TestingGenome, HumanBarbadosBlack PeopleChromosome MappingChromosomes, Human, Pair 10Chromosomes, Human, Pair 14Chromosomes, Human, Pair 2Cytoskeletal ProteinsDNA Mutational AnalysisEye ProteinsGenetic HeterogeneityGlaucoma, Open-AngleGlycoproteinsHumansMutationCytoskeletal ProteinsEye ProteinsGlycoproteinsMyocilin

Identifiers

PMID12616399
OpenAlexW1921441038

What OpenQuestion holds

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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.