Aims: The short (S) allele of the serotonin transporter gene promoter polymorphism (5-HTTLPR) contributes to the risk of alcohol dependence and co-occurring clinical features. We studied the putative link between this allele and relapse.
Methods: 48 alcohol-dependent male patients were recruited and genotyped for the 5-HTTLPR. Relapse to alcohol drinking was monitored during 3 months after standardized withdrawal.
Results: The S allele was significantly associated with relapse (p = 0.008) while no other factor that was measured played a significant role.
Conclusions: The S allele of the 5-HTTLPR polymorphism may influence the risk of relapse in abstinent alcohol-dependent patients, possibly through intermediate phenotypes.
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http://dx.doi.org/10.1093/alcalc/agn015 | DOI Listing |
Cancer Genomics Proteomics
December 2024
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background/aim: Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of approximately one in 3,000. More than half of the patients have new de novo pathogenic variants of the NF1 gene. In most family cases, all family members share an identical NF1-variant.
View Article and Find Full Text PDFPLoS One
December 2024
Department of Molecular Biomedical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, United States of America.
Environmental contamination can have lasting impacts on surrounding communities, though the long-term impacts can be difficult to ascertain. The disaster at the Chornobyl Nuclear Power Plant in 1986 and subsequent remediation efforts resulted in contamination of the local environment with radioactive material, heavy metals, and additional environmental toxicants. Many of these are mutagenic in nature, and the full effect of these exposures on local flora and fauna has yet to be understood.
View Article and Find Full Text PDFClin Mol Hepatol
December 2024
Department of Molecular and Clinical Medicine, Institute of Medicine, The Sahlgrenska Academy, Wallenberg Laboratory, University of Gothenburg, Gothenburg, Sweden.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global epidemic. MASLD has a strong genetic component, and a common missense variant (rs2642438) in the mitochondrial amidoxime-reducing component 1 (MARC1) gene confers protection against its onset and severity. However, there are contrasting results regarding the mechanisms entangling this protection.
View Article and Find Full Text PDFJ Vet Intern Med
December 2024
Animal Sciences, Oregon State University, Corvallis, Oregon, USA.
Background: The relationship between radiographic disc calcification score and FGF4L2 genotype has been reported in only a small number of dachshunds.
Hypothesis: A genotype with either 0 or 1 FGF4L2 copy will be associated with a lower number of calcified discs (lower K-n) compared with a genotype with 2 FGF4L2 copies.
Animals: Dachshunds registered with the Norwegian or Finnish Kennel Clubs for which both K-n and FGF4L2 genotype are known (n = 407).
BMC Pediatr
December 2024
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou, 510623, China.
Background: Mucolipidosis (ML) II and III alpha/beta are lysosomal disorders caused by mutations in the GNPTAB gene which encodes the alpha and beta subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase.
Method: To explore the clinical and molecular characteristics of the 20 ML II and III alpha/beta patients, clinical data was collected and GNPTAB gene was analyzed by nest PCR and direct Sanger-sequencing. The activity of several lysosomal enzymes was measured in the plasma.
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