Recent reports have shown association between CYP2D6 polymorphism and neuronal degenerative diseases such as Parkinson's disease. We investigated the association between this polymorphism and the risk for developing multiple sclerosis (MS). Leucocyte DNA from 118 MS patients and a control group of 200 unrelated healthy individuals was studied for the occurrence of 8 different CYP2D6 allelic variants by using allele-specific PCR amplification, XbaI and EcoRI RFLP analyses. The frequencies for these allelic variants in the MS and control groups were, respectively: CYP2D6wt 75.0% and 79.3%, CYP2D6A 0.4% and 1.3%, CYP2D6B 11.4% and 12.0%, CYP2D6C 4.2% and 2.0%, CYP2D6D 3.0% and 2.3%, CYP2D6L 0.8% and 0.3%, CYP2D6L2 5.1% and 3.0%. The frequencies of subjects with high CYP2D6 activity (those carrying two or more functional genes) were 77.1% and 73.5% in MS and control groups. The frequencies of subjects with absent CYP2D6 activity (those lacking functional genes) were 3.4% and 4.5% in MS and control groups, respectively. These results indicate that mutations at the CYP2D6 gene do not seem to be a factor in determining susceptibility to MS.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/j.1600-0404.1995.tb00481.x | DOI Listing |
JACC Adv
February 2025
Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Background: Clonal hematopoiesis of indeterminate potential (CHIP) has been linked to intensified systemic inflammation and represents a novel risk factor for atherosclerotic cardiovascular diseases, including aortic stenosis (AS).
Objectives: This study aimed to assess the clinical impact of CHIP in a cohort of severe AS patients undergoing transcatheter aortic valve implantation (TAVI).
Methods: We enrolled 110 severe AS patients in this retrospective study.
Front Endocrinol (Lausanne)
January 2025
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Objective: This study aims to investigate the associations between rs724030 A>G variant and prediabetes risk, along with their correlations with clinical features, including plasma glucose and serum insulin levels during oral glucose tolerance test (OGTT), islet function, insulin resistance, and plasma lipid levels. In particular, we investigated whether there are sex dimorphisms in the impact of this variant on islet function/insulin resistance.
Methods: We included 3415 glucose-tolerant healthy and 1744 prediabetes individuals based on OGTT.
Neurol Genet
February 2025
Department of Neurology, Adjunct Medicine, Division Medical Genetics, University of Washington, Seattle.
Alzheimer disease (AD), the most common dementing syndrome in the United States, is currently established by the presence of amyloid-β and tau protein biomarkers in the setting of clinical cognitive impairment. These straightforward diagnostic parameters belie an immense complexity of genetic architecture underlying risk and presentation in AD. In this review, we provide a focused overview of the current state of AD genetics.
View Article and Find Full Text PDFJ Endocr Soc
January 2025
Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, CT 06030-3101, USA.
Parathyroid carcinoma (PC) and atypical parathyroid tumors (APT) are incompletely understood and pose challenges in definitive diagnosis. sequence variants have recently been linked to PC and APT. Inactivating mutations in the ubiquitously expressed tumor suppressor gene, encoding folliculin, cause Birt-Hogg-Dubé syndrome (BHD), a rare tumor predisposition syndrome.
View Article and Find Full Text PDFHum Genomics
January 2025
Department of Biology, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!