Evidence map›Paper›PMID 15558079›Full record

Trial reportMolecular psychiatry2005

Analysis of the RELN gene as a genetic risk factor for autism.

D A Skaar, Y Shao, J L Haines, J E Stenger, J Jaworski, E R Martin, G R DeLong, J H Moore, J L McCauley, J S Sutcliffe and 5 more

Abstract readClinical Trial
PubMed Publisher
In one paragraph

Trial report in Molecular psychiatry, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
78citing papers in PubMed, 5 pooled it
6.1field-weighted citation impact, top 3% 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

78 citing papers in PubMed, 5 syntheses or guidelines pooled it, 201 citations in OpenAlex.

  1. Pooled it
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  18. Patient-Derived Stem Cells, AnotherFrontiers in pediatrics · 2019
    Review
  19. Article
  20. Modeling of Autism Using Organoid Technology.Molecular neurobiology · 2017
    Review

18 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 6 institutions in 1 country.

D A SkaarDepartment of Medicine, Center for Human Genetics, IGSP, Duke University Medical Center, Durham, NC, USA.
Y Shao
J L Haines
J E Stenger
J Jaworski
E R Martin
G R DeLong
J H Moore
J L McCauley
J S Sutcliffe
A E Ashley-Koch
M L Cuccaro
S E Folstein
J R Gilbert
M A Pericak-Vance
Duke University · USCenter for Human Genetics · USDuke University Hospital · USVanderbilt University Medical Center · USDuke Medical Center · USTufts University · US

Funding

USE OF DNA PROBE FOR CHOLINERGIC AND NON-CHOLINERGIC MG ANTIGENP01NS026630 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI PERICAK-VANCE, MARGARET A. · 1989 to 2009
$12.6M
Molecular and Genetic Epidemiology of AutismR01NS036768 · NINDS · DUKE UNIVERSITY · PI PERICAK-VANCE, MARGARET A. · 1997 to 2006
$9.3M
MAPPING AND GENE EXPRESSION IN AUTISM REGION ON CH 15R01HD036701 · NICHD · DUKE UNIVERSITY · PI GILBERT, JOHN RAY · 1998 to 2002
$1.1M
NICHD NIH HHS NIH R01 HD36701NINDS NIH HHS NIH R01 NS36768NINDS NIH HHS NS26630
6 · The paper itself

Abstract

Several genome-wide screens have indicated the presence of an autism susceptibility locus within the distal long arm of chromosome 7 (7q). Mapping at 7q22 within this region is the candidate gene reelin (RELN). RELN encodes a signaling protein that plays a pivotal role in the migration of several neuronal cell types and in the development of neural connections. Given these neurodevelopmental functions, recent reports that RELN influences genetic risk for autism are of significant interest. The total data set consists of 218 Caucasian families collected by our group, 85 Caucasian families collected by AGRE, and 68 Caucasian families collected at Tufts University were tested for genetic association of RELN variants to autism. Markers included five single-nucleotide polymorphisms (SNPs) and a repeat in the 5'-untranslated region (5'-UTR). Tests for association in Duke and AGRE families were also performed on four additional SNPs in the genes PSMC2 and ORC5L, which flank RELN. Family-based association analyses (PDT, Geno-PDT, and FBAT) were used to test for association of single-locus markers and multilocus haplotypes with autism. The most significant association identified from this combined data set was for the 5'-UTR repeat (PDT P-value=0.002). These analyses show the potential of RELN as an important contributor to genetic risk in autism.

Indexed as

5' Untranslated RegionsAutistic DisorderCell Adhesion Molecules, NeuronalChromosomes, Human, Pair 7Extracellular Matrix ProteinsFemaleGenetic Predisposition to DiseaseGenotypeHumansInfantLinkage DisequilibriumMaleNerve Tissue ProteinsPedigreePolymorphism, Single NucleotideReelin Protein5' Untranslated RegionsCell Adhesion Molecules, NeuronalExtracellular Matrix ProteinsNerve Tissue ProteinsReelin ProteinRELN protein, humanSerine Endopeptidases

Identifiers

PMID15558079
OpenAlexW1990423079

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.