As with other autoimmune diseases, susceptibility to multiple sclerosis (MS) is believed to result from the complex interaction of a number of genes, each with modest effect. Several genome-wide screens have implicated the nitric oxide synthase 2A gene (NOS2A), which encodes the inducible form of nitric oxide synthase, as being potentially associated with MS. To determine whether genetic variants within this gene may constitute a risk factor for causing MS, we investigated 13 single nucleotide polymorphisms in the NOS2A gene, in a case-control group of 214 Italian patients with MS and 121 controls. All these single nucleotide polymorphisms (SNPs) were analyzed using the SNPlex™ Genotyping System (Applied Biosystems). Data were analyzed using Genemapper 4.0 and Haploview 4.1. No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs. Defining the haplotype blocks also failed to detect any associated haplotypes. Our results suggest that polymorphic variation within the NOS2A gene does not influence the susceptibility to MS in patients of Italian origin.
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http://dx.doi.org/10.1016/j.jns.2011.02.008 | DOI Listing |
Mol Diagn Ther
January 2025
Istituto Europeo di Oncologia, IRCCS, Via Adamello 16, 20139, Milan, Italy.
Background: Predicting response to targeted cancer therapies increasingly relies on both simple and complex genetic biomarkers. Comprehensive genomic profiling using high-throughput assays must be evaluated for reproducibility and accuracy compared with existing methods.
Methods: This study is a multicenter evaluation of the Oncomine™ Comprehensive Assay Plus (OCA Plus) Pan-Cancer Research Panel for comprehensive genomic profiling of solid tumors.
Nucleic Acids Res
January 2025
Institute of Biotechnology, Life Sciences Center, Vilnius University, Vilnius, 10257, Lithuania.
The expansion of single-cell analytical techniques has empowered the exploration of diverse biological questions at the individual cells. Droplet-based single-cell RNA sequencing (scRNA-seq) methods have been particularly widely used due to their high-throughput capabilities and small reaction volumes. While commercial systems have contributed to the widespread adoption of droplet-based scRNA-seq, their relatively high cost limits the ability to profile large numbers of cells and samples.
View Article and Find Full Text PDFJ Clin Med
December 2024
National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan.
Despite the high progress that has been made in the field of cardiology, the left ventricular assist device (LVAD) can still cause complications (thrombosis/bleeding) in heart failure (HF) patients after implantation. Complications develop due to the incorrect dose of antithrombotic therapy, due to the influence of the non-physiological shear stress of the device, and also due to inherited genetic polymorphisms. Therefore, the aim of our study is to identify the influence of the genetic polymorphisms on complication development in HF patients with implanted LVADs with prescribed antiplatelet therapy.
View Article and Find Full Text PDFNutrients
January 2025
Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Circulating glycine levels have been associated with reduced risk of coronary artery disease (CAD) in humans but these associations have not been observed in all studies. We evaluated whether the relationship between glycine levels and atherosclerosis was causal using genetic analyses in humans and feeding studies in mice. Serum glycine levels were evaluated for association with risk of CAD in the UK Biobank.
View Article and Find Full Text PDFNutrients
December 2024
Department of Cardiology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing 100034, China.
The relationship between folate concentrations and stroke risk remains unestablished, and the mediation effect of homocysteine (Hcy) and interaction effect of methylenetetrahydrofolate reductase () gene polymorphism has yet to be investigated. This cohort study involved 4903 subjects derived from a Chinese community population. The association between folate and first stroke was examined in Cox proportional hazard regression models.
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