Evidence map›Paper›PMID 19255578›Full record

ArticleMolecular psychiatry2010

Population genetic study of the brain-derived neurotrophic factor (BDNF) gene.

T L Petryshen, P C Sabeti, K A Aldinger, B Fry, J B Fan, S F Schaffner, S G Waggoner, A R Tahl, P Sklar

Open access · bronzeAbstract read
In one paragraph

Article in Molecular psychiatry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
138citing papers in PubMed, 9 pooled it
8.5field-weighted citation impact, top 2% 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

138 citing papers in PubMed, 9 syntheses or guidelines pooled it, 270 citations in OpenAlex.

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78 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

9 authors at 4 institutions in 1 country.

T L PetryshenPsychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA. petryshen@chgr.mgh.harvard.edu
P C Sabeti
K A Aldinger
B Fry
J B Fan
S F Schaffner
S G Waggoner
A R Tahl
P Sklar
Broad Institute · USCenter for Human Genetics · USHarvard University · USMassachusetts General Hospital · US

Funding

Large scale association studies in bipolar disorderR01MH062137 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SKLAR, PAMELA · 2002 to 2006
$1.6M
CIHRNIMH NIH HHS R01 MH062137
6 · The paper itself

Abstract

Genetic variants in the brain-derived neurotrophic factor (BDNF) gene, predominantly the functional Val66Met polymorphism, have been associated with risk of bipolar disorder and other psychiatric disorders. However, not all studies support these findings, and overall the evidence for the association of BDNF with disease risk is weak. As differences in population genetic structure between patient samples could cause discrepant or spurious association results, we investigated this possibility by carrying out population genetic analyses of the BDNF genomic region. Substantial variation was detected in BDNF coding region single-nucleotide polymorphism (SNP) allele and haplotype frequencies between 58 global populations, with the derived Met allele of Val66Met ranging in frequency from 0 to 72% across populations. F(ST) analyses to assess diversity in the HapMap populations determined that the Val66Met F(ST) value was at the 99.8th percentile among all SNPs in the genome. As the BDNF population genetic differences may be due to local selection, we performed the long-range haplotype test for selection using 68 SNPs spanning the BDNF genomic region in 12 European-derived pedigrees. Evidence for positive selection was found for a high-frequency Val-carrying haplotype, with a relative extended haplotype homozygosity value above the 99 th percentile compared with HapMap data (P=4.6 x 10(-4)). In conclusion, we observed considerable BDNF allele and haplotype diversity among global populations and evidence for positive selection at the BDNF locus. These phenomena can have a profound impact on the detection of disease susceptibility genes and must be considered in gene association studies of BDNF.

Indexed as

Gene FrequencyBrain-Derived Neurotrophic FactorGenetics, PopulationGenotypeHumansLinkage DisequilibriumMethioninePolymorphism, Single NucleotideValineBrain-Derived Neurotrophic FactorMethionineValine

Identifiers

PMID19255578
PMCPMC2888876
OpenAlexW2051427665

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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.