Background: Mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene could reduce the enzyme activity and lead to hyperhomocysteinemia, a condition that has been associated with several vascular conditions, in particular, coronary artery disease and deep vein thrombosis.
Aim: The aim of this study was to assess the prevalence of the two most common polymorphisms, C677T and A1298C, which have not been well studied in the Lebanese population.
Methods: We randomly selected 205 healthy individuals originating from different Lebanese provinces and religious communities. The CVD StripAssay was used to test for MTHFR gene polymorphisms.
Results: We found that for C677T, the prevalence of C/C, C/T, and T/T genotypes was 65.3%, 30.8%, and 3.9%, respectively, with an overall carrier rate of 34.6% and allelic frequency of 0.19. However, the A1298C genotypic prevalence of A/C, A/A, and C/C was 50.2%, 25.9%, and 23.9%, respectively, with an overall carrier rate of 74.14% and an allelic frequency of 0.49.
Conclusions: Compared to all other populations reported so far, the Lebanese population harbors the highest prevalence of the MTHFR A1298C polymorphism. This is an important finding to be followed in terms of clinical significance and sheds light on an additional unique genetic feature in this community.
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http://dx.doi.org/10.1089/gte.2007.0064 | DOI Listing |
Genes (Basel)
December 2024
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.
Chronic venous insufficiency (CVI), a chronic vascular dysfunction, is a common health problem that causes serious complications such as painful varicose veins and even skin ulcers. Identifying the underlying genetic and epigenetic factors is important for improving the quality of life of individuals with CVI. In the literature, many genes, variants, and miRNAs associated with CVI have been identified through genomic and transcriptomic studies.
View Article and Find Full Text PDFChildren (Basel)
January 2025
2nd Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University Hospital, 54636 Thessaloniki, Greece.
gene polymorphisms (677C>T and 1298A>C) correlate with various types of cancer across all age groups; however, a small number of studies have included solely children and adolescents. The aim of this systematic review and meta-analysis was to present and synthesize all the available evidence on the association between gene polymorphisms and the incidence of all types of cancer in children and adolescences. After a systematic search of all of the available data, original case-control studies involving children or adolescents with a confirmed diagnosis of any type of cancer and a molecular genetic test of gene polymorphisms were included.
View Article and Find Full Text PDFClin Pract Epidemiol Ment Health
December 2024
Laboratory of Panic and Respiration, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro (UFRJ). Rio de Janeiro, RJ, Brazil.
Background: Many pharmacological treatments are considered effective in the treatment of panic disorder (PD), however, about 20 to 40% of the patients have treatment-resistant PD. Pharmacogenetics could explain why some patients are treatment-resistant.
Objective: Our objective was to gather preliminary data on the clinical usefulness of pharmacogenetic testing in this disorder.
Gene
January 2025
Mansoura University Children's Hospital, Mansoura University, Mansoura, Egypt.
Background: The contribution of MTHFR and TP53 genetic variants to breast carcinoma (BC) susceptibility has been examined, but their findings have been inconclusive. This work is designed to explore the potential roles of the MTHFR (rs1801131, rs1801133) and TP53 (rs1042522) variants with increased risk of BC using genetic and bioinformatic approaches.
Methods: This work included a total of 242 female participants [142 BCE patients and 100 healthy controls].
Indian J Clin Biochem
January 2025
Department of Biochemistry, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka 575004 India.
Hyperhomocysteinemia (HHcy) is one of the factors contributing to the pathogenesis of coronary artery disease (CAD). Besides nutritional deficiency disorders, genetic polymorphism predominantly related to point mutation in the gene coding for Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the metabolism methionine-homocysteine (Hcy) has been implicated in HHcy. PubMed survey related to MTHFR gene polymorphism in CAD retrieved 143 articles from which 20 were selected in which MTHFR gene polymorphism and Hcy were estimated.
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