Dataset Information

Allelic distribution of BDNF Val66Met polymorphism in healthy Romanian volunteers.

ABSTRACT: Population stratification of functional gene polymorphisms is a potential confounding factor in genetic association studies. The Val66Met (rs6265) single-nucleotide polymorphism in the brain-derived neurotrophic factor gene (BDNF) exhibits one of the highest variabilities in terms of allelic distribution between populations. The present study reports the distribution of BDNF Val66Met alleles in a sample of healthy volunteers (N = 1124) selected from the Romanian population. Frequencies were 80.74% for the Val allele and 19.26% for the Met allele. The data from this study extends efforts to map the allelic distribution of BDNF Val66Met in populations around the world and emphasizes that population stratification should be controlled for in future studies that report phenotypic associations in samples from different populations.

SUBMITTER: Vulturar R

PROVIDER: S-EPMC5017592 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Allelic distribution of BDNF Val66Met polymorphism in healthy Romanian volunteers.

Vulturar Romana R Chiş Adina A Hambrich Melinda M Kelemen Beatrice B Ungureanu Loredana L Miu Andrei C AC

Translational neuroscience 20160422 1

Population stratification of functional gene polymorphisms is a potential confounding factor in genetic association studies. The Val66Met (rs6265) single-nucleotide polymorphism in the brain-derived neurotrophic factor gene (<i>BDNF</i>) exhibits one of the highest variabilities in terms of allelic distribution between populations. The present study reports the distribution of BDNF Val66Met alleles in a sample of healthy volunteers (N = 1124) selected from the Romanian population. Frequencies we ...[more]

PMID: 28123819

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Project description:The val(66)met polymorphism in brain-derived neurotrophic factor (BDNF) has been associated with poorer outcomes after stroke. The mechanism for this finding remains uncertain but might be related to the reduced motor system activation associated with this polymorphism in healthy people.The current study examined whether the presence of the BDNF val(66)met polymorphism is associated with reduced motor system activation after stroke.Forty-two patients with stroke who were enrolled in 1 of 2 studies of robot-assisted arm motor therapy participated in the study. All participants were tested for the BDNF val(66)met polymorphism followed by functional magnetic resonance imaging during affected hand movement.Participants averaged 12 months poststroke and had wide-ranging motor deficits (Fugl-Meyer scale scores=14-60). Brain activation in participants without the BDNF val(66)met polymorphism (n=26) spanned bilateral motor networks with a larger volume (total=334 cc) than that found in participants with this polymorphism (n=16) (97 cc). Regional analyses were consistent. Participants without this polymorphism showed larger ipsilesional primary sensorimotor cortex activation volume and magnitude compared with those in whom the polymorphism was present.The extent to which these findings generalize to other populations of people with stroke, such as those with stroke <7 days prior, remains uncertain.Functional magnetic resonance imaging during affected hand movement showed decreased brain activation among participants with the BDNF val(66)met polymorphism compared with those lacking this polymorphism, especially in the ipsilesional primary sensorimotor cortex contralateral to movement. These results echo findings in healthy people and suggest that genetic factors affecting the normal brain continue to be operative after stroke. The findings suggest a potential imaging-based endophenotype for the BDNF val(66)met polymorphism's effect on the motor system that may be useful in a clinical trial setting.

Dataset Information

Allelic distribution of BDNF Val66Met polymorphism in healthy Romanian volunteers.

Publications

Allelic distribution of BDNF Val66Met polymorphism in healthy Romanian volunteers.

Similar Datasets

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