Evidence map›Paper›PMID 19626131›Full record

ArticleMolecular vision2009

Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36.

Robert Wojciechowski, Joan E Bailey-Wilson, Dwight Stambolian

Open access · greenAbstract read
In one paragraph

Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.0field-weighted citation impact, top 21% 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.Investigative ophthalmology & visual science · 2021
    Article
  2. The GGLEAM Study: Understanding Glaucoma in the Ohio Amish.International journal of environmental research and public health · 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

3 authors at 1 institution in 1 country.

Robert WojciechowskiInherited Disease Research Branch, National Human Genome Research Institute, 333 Cassell Drive, Baltimore, MD 21224, USA. robwoj@mail.nih.gov
Joan E Bailey-Wilson
Dwight Stambolian
National Human Genome Research Institute · US

Funding

Genetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5M
GENETICS STUDIES OF MYOPIAU10EY012226 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT E · 1999 to 2002
$3.4M
GENOTYPING FOR LOCATING HUMAN DISEASE GENESN01HG065403 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID L · 1996 to 2000
$1.7M
GENETICS STUDIES OF MYOPIAR01EY012226 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2003 to 2003
$720k
Intramural NIH HHSNEI NIH HHS EY 12226NEI NIH HHS R01 EY012226NEI NIH HHS U10 EY012226NHGRI NIH HHS N01 HG065403
6 · The paper itself

Abstract

purposeA previous genome-wide study in Orthodox Ashkenazi Jewish pedigrees showed significant linkage of ocular refraction to a Quantitative Trait Locus (QTL) on 1p34-36.1. We carried out a fine-mapping study of this region in Orthodox Ashkenazi Jewish (ASHK) and Old Order Amish (OOA) families to confirm linkage and narrow the candidate region.

methodsFamilies were recruited from ASHK and OOA American communities. The samples included: 402 individuals in 53 OOA families; and 596 members in 68 ASHK families. Families were ascertained to contain multiple myopic individuals. Genotyping of 1,367 SNPs was carried out within a 35cM (approximately 23.9 Mb) candidate QTL region on 1p34-36. Multipoint variance components (VC) and regression-based (REG) linkage analyses were carried out separately in OOA and ASHK groups, and in a combined analysis that included all families.

resultsEvidence of linkage of refractive error was found in both OOA (VC LOD=3.45, REG LOD=3.38 at approximately 59 cM) and ASHK families (VC LOD=3.12, REG LOD=4.263 at ~66 cM). Combined analyses showed three highly significant linkage peaks, separated by approximately 11cM (or 10 Mb), within the candidate region.

conclusionIn a fine-mapping linkage study of OOA and ASHK families, we have confirmed linkage of refractive error to a QTL on 1p. The area of linkage has been narrowed down to a gene-rich region at 1p34.2-35.1 containing ~124 genes.

Indexed as

Genetic LinkagePhysical Chromosome MappingAdolescentAdultAgedAged, 80 and overChildChromosomes, Human, Pair 1EthnicityFamilyFemaleGenetic MarkersHumansJewsMaleMiddle AgedGenetic Markers

Identifiers

PMID19626131
PMCPMC2713730
OpenAlexW2131017289

What OpenQuestion holds

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Registered trials

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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.