Evidence map›Paper›PMID 19035560›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2009

Allelic variants in HTR3C show association with autism.

Karola Rehnström, Tero Ylisaukko-oja, Ilona Nummela, Pekka Ellonen, Elli Kempas, Raija Vanhala, Lennart von Wendt, Irma Järvelä, Leena Peltonen

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 37% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014
    Pooled it
  2. Tapping into 5-HTInternational journal of molecular sciences · 2021
    Review
  3. Article
  4. Distribution of 5-HT3, 5-HT4, and 5-HT7 Receptors Along the Human Colon.Journal of neurogastroenterology and motility · 2015
    Article
  5. 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

9 authors at 4 institutions in 3 countries.

Karola RehnströmDepartment of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland, Helsinki, Finland. karola.rehnstrom@ktl.fi
Tero Ylisaukko-oja
Ilona Nummela
Pekka Ellonen
Elli Kempas
Raija Vanhala
Lennart von Wendt
Irma Järvelä
Leena Peltonen
Institute for Molecular Medicine Finland · FIHelsinki Children's Hospital · FIUniversity of Helsinki · FIWellcome Sanger Institute · GB

Funding

Wellcome Trust 089061
6 · The paper itself

Abstract

Autism spectrum disorders (ASDs) are severe neurodevelopmental disorders with a strong genetic component. Only a few predisposing genes have been identified so far. We have previously performed a genome-wide linkage screen for ASDs in Finnish families where the most significant linkage peak was identified at 3q25-27. Here, 11 positional and functionally relevant candidate genes at 3q25-27 were tested for association with autistic disorder. Genotypes of 125 single nucleotide polymorphisms (SNPs) were determined in 97 families with at least one individual affected with autistic disorder. The most significant association was observed using two non-synonymous SNPs in HTR3C, rs6766410 and rs6807362, both resulting in P = 0.0012 in family-based association analysis. In addition, the haplotype C-C corresponding to amino acids N163-A405 was overtransmitted to affected individuals (P = 0.006). Sequencing revealed no other variants in the coding region or splice sites of HTR3C. Based on the association analysis results in a previously identified linkage region, we propose that HTR3C represents a novel candidate locus for ASDs and should be tested in other populations.

Indexed as

Polymorphism, Single NucleotideAllelesAutistic DisorderFamilyFinlandGene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansReceptors, Serotonin, 5-HT3HTR3C protein, humanReceptors, Serotonin, 5-HT3

Identifiers

PMID19035560
PMCPMC2703778
OpenAlexW2018698830

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.