Evidence map›Paper›PMID 21200389›Full record

ArticleMolecular psychiatry2012

Identification and functional characterization of three novel alleles for the serotonin transporter-linked polymorphic region.

E A Ehli, Y Hu, T Lengyel-Nelson, J J Hudziak, G E Davies

Abstract read
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In one paragraph

Article in Molecular psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 17% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.

  1. Pooled it
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  5. TheFrontiers in genetics · 2021
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  12. From pharmacogenetics to pharmacogenomics: the way toward the personalization of antidepressant treatment.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2014
    Review
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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

5 authors at 3 institutions in 1 country.

E A EhliAvera Institute for Human Behavioral Genetics, Avera McKennan Hospital and University Health Center, Sioux Falls, SD, USA.
Y Hu
T Lengyel-Nelson
J J Hudziak
G E Davies
Avera McKennan Hospital & University Health Center · USSouth Dakota State University · USUniversity of Vermont · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A promoter polymorphism in the serotonin transporter gene (5-HTTLPR) has been reported to confer relative risk for phenotypes (depression/anxiety) and endophenotypes (amygdala reactivity). In this report, we identify and characterize three rare 5-HTTLPR alleles not previously described in the human literature. The three novel alleles were identified while genotyping 5-HTTLPR in a family-based attention deficit hyperactivity disorder clinical population. Two of the novel alleles are longer than the common 16-repeat long (L) allele (17 and 18 repeats) and the third is significantly smaller than the 14-repeat short (S) allele (11 repeats). The sequence and genetic architecture of each novel allele is described in detail. We report a significant decrease in the expression between the XL₁₇ (17r) allele and the L(A) (16r) allele. The XS₁₁ (11r) allele showed similar expression with the S (14r) allele. A 1.8-fold increase in expression was observed with the L(A)(16r) allele compared with the L(G) (16r) allele, which replicates results from earlier 5-HTTLPR expression experiments. In addition, transcription factor binding site (TFBS) analysis was performed using MatInspector (Genomatix) that showed the presence or absence of different putative TFBSs between the novel alleles and the common L (16r) and S (14r) alleles. The identification of rare variants and elucidation of their functional impact could potentially lead to understanding the contribution that the rare variant may have on the inheritance/susceptibility of multifactorial common diseases.

Indexed as

Genetic Predisposition to DiseaseGenetic VariationAdolescentAllelesAttention Deficit Disorder with HyperactivityBinding SitesCell Line, TransformedChecklistChildChild, PreschoolFamily HealthFemaleGenotypeHumansMaleNeuronsSerotonin Plasma Membrane Transport ProteinsTranscription Factors

Identifiers

PMID21200389
OpenAlexW2149473314

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.