Background: A frequent polymorphism of the brain-derived neurotrophic factor (BDNF) gene (val(66)met) has been suggested to modulate hippocampal neuronal plasticity and has been associated with individual variations in emotional reactivity traits and episodic memory.
Methods: The hippocampal formation was outlined in high-resolution anatomical magnetic resonance imaging (MRI) data in a sample of 36 healthy volunteers and compared between individuals as a function of the presence of the met-BDNF allele. Both whole-brain volume corrected and uncorrected data were tested for effects of genotype, sex, and age.
Results: The met-BDNF allele was associated with an 11% reduction in the volume of the hippocampal formation.
Conclusions: In spite of a relatively small sample size, the presence of the met-BDNF allele was found associated with a reduced volume of the hippocampal formation in healthy volunteers and may represent a vulnerability factor for the development of disease processes associated with the dysfunction of this brain region.
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http://dx.doi.org/10.1016/j.biopsych.2005.09.022 | DOI Listing |
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Ann Med
December 2025
Department of Anatomy, College of Medicine, King Khalid University, Abha, Saudi Arabia.
Background: Substance use disorders are multifaceted conditions influenced by both genetic and environmental factors. Serotonergic pathways are known to be involved in substance use disorder susceptibility, with genetic markers within serotonin receptor genes identified as potential risk factors.
Methods: To further explore this relationship, we conducted a study to investigate the association between several polymorphisms in five serotonin receptor genes (, , ) and substance use disorders (SUD) in Jordanian males by sequencing genotypes in 496 SUD patients and 496 healthy controls.
Eur J Neurol
January 2025
School of Basic Medical Sciences, Fujian Medical University, Fuzhou, China.
Background: The regulatory role of the apolipoprotein E (APOE) ε4 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE ε4 allele on cognitive and motor functions in SCA3 patients.
Methods: This study included 281 unrelated SCA3 patients and 182 controls.
Sci Rep
December 2024
Internal Medicine/Rheumatology, University of Texas Health Science Center at Houston, Houston, 77030, USA.
This study aimed to examine whether a reported SSc-associated SNP rs2841277 in the PLD4 gene identified in an Asian population was also associated with SSc in European American (EA). The EA cohort consisting of 1005 SSc patients and 961 healthy controls was examined in this study. TaqMan genotyping assays were performed to examine the SNP.
View Article and Find Full Text PDFSci Rep
December 2024
Sydney School of Veterinary Science, University of Sydney, Camperdown, NSW, 2006, Australia.
Chlamydiosis is a common infectious disease impacting koalas and is a major cause of population decline due to resulting mortality and infertility. Polymorphisms of major histocompatibility complex (MHC) genes influence chlamydial disease outcomes in several species but koala studies have produced variable results. We aimed to identify the MHC II DAB and DBB repertoire of koalas from Liverpool Plains, NSW, a population heavily impacted by chlamydiosis.
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