Background: Paraoxonases (PON) 1-3 are lactonases with antioxidant and atheroprotective properties. The best known single nucleotide polymorphisms (SNPs) within the PON family, include: Q192R (rs662), L55M (rs854560) in the PON1 gene and C311S (rs7493) in the PON2 gene. Their influence on the occurrence and course of coronary artery disease (CAD) is unclear. The aim of this study was to assess the association between the most common PON1 and PON2 genetic variants with the presence of CAD, as well as their relation to coronary lesion complexity in accordance with the ACC/AHA standard.
Methods: We included 1027 individuals: 367 CAD patients qualified for coronary angiography and 660 healthy volunteers as controls. We extracted DNA from circulating blood leukocytes, amplified the PON1 and PON2 genetic sequence and used restriction enzymes to identify the SNPs. Patients with CAD underwent coronary angiography and were assigned to two groups based on lesion severity: patients with at least one type C lesion and without a type C lesion. The former where categorized into those with a significant narrowing (≥50% diameter stenosis) and those without one.
Results: We found no association between the analyzed SNPs and symptomatic CAD. However, in patients with diagnosed CAD, the PON311S allele was independently associated with the risk of the most complex type C coronary lesion occurrence.
Conclusions: Our study is the first report of an association between PON2 311S SNP and the type of coronary atherosclerotic lesions in humans.
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http://dx.doi.org/10.1016/j.clinbiochem.2022.04.009 | DOI Listing |
PLoS One
December 2024
School of Biological Sciences, Nanyang Technological University, Singapore, Singapore.
Immunofluorescence is highly dependent on antibody-antigen interactions for accurate visualization of proteins and other biomolecules within cells. However, obtaining antibodies with high specificity and affinity for their target proteins can be challenging, especially for targets that are complex or naturally present at low levels. Therefore, we developed AptaFluorescence, a protocol that utilizes fluorescently labeled aptamers for in vitro biomolecule visualization.
View Article and Find Full Text PDFPLoS One
December 2024
Department of Biotechnology and Food Science, NTNU - Norwegian University of Science and Technology, Trondheim, Norway.
Disease networks offer a potential road map of connections between diseases. Several studies have created disease networks where diseases are connected either based on shared genes or Single Nucleotide Polymorphism (SNP) associations. However, it is still unclear to which degree SNP-based networks map to empirical, co-observed diseases within a different, general, adult study population spanning over a long time period.
View Article and Find Full Text PDFClin Transl Gastroenterol
December 2024
Department of Pharmacology, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Introduction: Hypoalgesic inflammatory bowel disease (IBD) may provide critical insights into human abdominal pain. This condition was previously associated with homozygosity for a polymorphism (rs6795970, A1073V; 1073 val/val ) related to Na v 1.8, a voltage-gated sodium channel preferentially expressed on nociceptors.
View Article and Find Full Text PDFJAMA Netw Open
December 2024
Department of Cell Biology, The Province and Ministry Cosponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Importance: Patients with juvenile idiopathic arthritis (JIA) may develop adult rheumatic diseases later in life, and prolonged or recurrent disease activity is often associated with substantial disability; therefore, it is important to identify patients with JIA at high risk of developing adult rheumatic diseases and provide specialized attention and preventive care to them.
Objective: To elucidate the full extent of the genetic association of JIA with adult rheumatic diseases, to improve treatment strategies and patient outcomes for patients at high risk of developing long-term rheumatic diseases.
Design, Setting, And Participants: In this genetic association study of 4 disease genome-wide association study (GWAS) cohorts from 2013 to 2024 (JIA, rheumatoid arthritis [RA], systemic lupus erythematosus [SLE], and systemic sclerosis [SSc]), patients in the JIA cohort were recruited from the US, Australia, and Norway (with a UK cohort included in the meta-analyzed cohort), while patients in the other 3 cohorts were recruited from US and Western European countries.
Metab Brain Dis
December 2024
Department of Neurology, Third Affiliated Clinical Hospital of the Changchun University of Chinese Medicine, Changchun, 130022, China.
Some studies have shown an association between dyslipidemia and diabetic neuropathy (DN), but the genetic association has not been clarified. Therefore, the present study aimed to investigate the genetic causal association between dyslipidemia and DN through a Mendelian randomization (MR) approach. Genetic causal associations between total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL), and high-density lipoprotein cholesterol (HDL) and DN were investigated by MR to provide a basis for the prevention and treatment of DN.
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