Evidence map›Paper›PMID 8655141›Full record

ArticleHuman genetics1996

Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia.

J Erdmann, D Shimron-Abarbanell, M Rietschel, M Albus, W Maier, J Körner, B Bondy, K Chen, J C Shih, M Knapp and 2 more

Abstract readComparative Study
PubMed Publisher
In one paragraph

Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 3 pooled it
11.8field-weighted citation impact, top 1% 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

26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 201 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Effect of polymorphisms of three genes mediating monoamine signalling on brain morphometry in schizophrenia and healthy subjects.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2015
    Article
  5. Article
  6. Candidate gene associations with withdrawn behavior.Journal of child psychology and psychiatry, and allied disciplines · 2013
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  12. Genetic variation in the serotonin 2A receptor and suicidal ideation in a sample of 270 Irish high-density schizophrenia families.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009
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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

12 authors at 4 institutions in 2 countries.

J ErdmannInstitute of Human Genetics, University of Bonn, Germany.
D Shimron-Abarbanell
M Rietschel
M Albus
W Maier
J Körner
B Bondy
K Chen
J C Shih
M Knapp
P Propping
M M Nöthen
University of Bonn · DEUniversity of Southern California · USBaum Consult · DEJohannes Gutenberg University Mainz · DE

Funding

TWO TYPES OF MONOAMINE OXIDASER37MH039085 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI SHIH, JEAN CHEN · 1988 to 2007
$3.8M
PROTEIN(S) INVOLVED IN NEUROTRANSMISSIONR01MH037020 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI SHIH, JEAN C · 1985 to 2001
$699k
MOLECULAR STUDIES OF MONOAMINE OXIDASESK05MH000796 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI SHIH, JEAN C · 1989 to 1998
–
NIMH NIH HHS K05MH00796NIMH NIH HHS R01MH37020NIMH NIH HHS R37MH39085
6 · The paper itself

Abstract

A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence variants. Two sequence changes would result in protein alterations: a substitution of threonine by asparagine at position 25 (Thr25Asn), and a substitution of histidine by tyrosine at position 452 (His452Tyr). In order to test for a possible contribution to the development of schizophrenia, we have determined allele frequencies in extended samples of unrelated patients and healthy controls. The two amino acid substitutions are found with similar frequencies in patients and controls, indicating that the presence of these variants is not causally related to the development of schizophrenia. However, the reported association of the non-coding polymorphism 102T/C with the disease has also been detected in our sample (P=0.041, odds ratio=1.28, 95% confidence interval 1.012-1.623).

Indexed as

Chromosomes, Human, Pair 13Genetic VariationPoint MutationAllelesAmino Acid SequenceBase SequenceChromosome MappingConfidence IntervalsDNA PrimersExonsHumansMolecular Sequence DataPolymerase Chain ReactionPolymorphism, GeneticReceptor, Serotonin, 5-HT2AReceptors, SerotoninDNA PrimersReceptor, Serotonin, 5-HT2AReceptors, Serotonin

Identifiers

PMID8655141
OpenAlexW1986019200

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.