Evidence map›Paper›PMID 23216241›Full record

ArticleGenetic testing and molecular biomarkers2013

Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population.

Jyoti Rajan Sharma, Zainunisha Arieff, Hajirah Gameeldien, Muneera Davids, Mandeep Kaur, Lize van der Merwe

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Article in Genetic testing and molecular biomarkers, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 3 pooled it
1.1field-weighted citation impact, top 24% 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

8 citing papers in PubMed, 3 syntheses or guidelines pooled it, 21 citations in OpenAlex.

  1. Pooled it
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  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Autism spectrum disorder in sub-saharan africa: A comprehensive scoping review.Autism research : official journal of the International Society for Autism Research · 2017
    Article
  8. 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

6 authors at 2 institutions in 2 countries.

Jyoti Rajan SharmaBiotechnology Department, Faculty of Natural Science, University of Western Cape, Bellville, South Africa.
Zainunisha Arieff
Hajirah Gameeldien
Muneera Davids
Mandeep Kaur
Lize van der Merwe
King Abdullah University of Science and Technology · SASouth African Medical Research Council · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population.

aimsThe aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population.

methodsGenomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan(®) Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes.

resultsA significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed.

conclusionThere might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdolescentAutistic DisorderCell Adhesion Molecules, NeuronalChildExonsExtracellular Matrix ProteinsFemaleGene FrequencyGenetic Association StudiesGenotypeHumansIntronsMaleNerve Tissue ProteinsCell Adhesion Molecules, NeuronalExtracellular Matrix ProteinsNerve Tissue ProteinsReelin ProteinRELN protein, humanSerine Endopeptidases

Identifiers

PMID23216241
PMCPMC3552159
OpenAlexW2036394308

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.