Considering the mutual relationship between redox disbalance and inflammation in (HP) infection, we aimed to evaluate whether the polymorphisms in antioxidant glutathione transferases genes ( rs1695, rs1138272, rs4925 and rs156697) modify susceptibility to HP infection, as well as the severity of HP-associated gastric manifestation development. Therefore, GST gene polymorphisms were determined via the appropriate PCR in 101 HP-positive and 107 HP-negative patients. Our results show that carriers of the variant genotype (rs1695) or at least one variant allele (rs1138272) were more prone to the development of HP-positive gastritis compared with reference allele carriers (OR = 3.21, 95%CI = 1.15-8.91, = 0.025 and OR = 2.31, 95%CI = 1.14-4.89, = 0.021, respectively), which was confirmed by haplotype analysis. HP-positive carriers of the *A variant allele showed increased risk of developing gastric atrophy and precancerous gastric lesions compared with the reference one (OR = 2.49, 95%CI:1.04-5.96, = 0.04 and OR = 2.98, 95%CI = 1.21-7.34, = 0.018, respectively). HP-positive carriers of the *G variant allele were less prone to developing moderate/severe inflammatory infiltration (OR = 0.35, 95%CI = 1.04-5.96, = 0.04), whereas the *T variant allele was significantly associated with active inflammation (OR = 4.09, 95%CI = 1.04-5.96, = 0.042). In conclusion, antioxidant GST genetic propensity seems to have an important impact on both acute and chronic forms of HP infection.
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http://dx.doi.org/10.3390/ijms26020488 | DOI Listing |
J Mol Diagn
January 2025
Clinical Research and Technological Development Division (Divisão de Pesquisa Clínica e Desenvolvimento Tecnológico), Brazilian National Cancer Institute (Instituto Nacional de Câncer), Rio de Janeiro, Brazil. Electronic address:
This article examines the frequency distribution of Tier 1 pharmacogenetic variants of the Association for Molecular Pathology Pharmacogenomics Working Group Recommendations in two large (>1.000 individuals) cohorts of the admixed Brazilian population, and in patients from the Brazilian Public Health System enrolled in pharmacogenetic trials. Three Tier 1 variants, all in DPYD, were consistently absent, which may justify their non-inclusion in genotyping panels for Brazilians; 13 variants had frequency < 1.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
January 2025
Northeast Ohio Medical University College of Medicine, 4209 St, OH-44, Rootstown, OH, 44272, USA; HEARS, LLC, 632 E. Market St, Ste B, Akron, OH, 44304, USA. Electronic address:
Objectives: Define the extent to which pathogenic GJB2 (gap junction beta-2) variants are responsible for non-syndromic hearing loss (NSHL) in the Asian population.
Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. CINAHL, Embase, and PubMed's MEDLINE were accessed from 1997 to 2023 using permutations of the MeSH terms: "Asian," ''Southeast Asian,'' "South Asian," "East Asian," "Southeastern Asian," and "GJB2.
Nutrients
January 2025
Epidemiology Unit, Istituto Dermopatico dell'Immacolata (IDI-IRCCS-FLMM), 00167 Rome, Italy.
Unlabelled: Single nucleotide polymorphisms (SNPs) found to be associated with Androgenetic Alopecia (AGA) to date, are characterized by an apparent reduced penetrance into the phenotype suggesting a role of other factors in the etiology of AGA.
Objective: We conducted a study to investigate the role of specific allelic variants in AGA controlling for nutritional and lifestyle factors.
Methods: Individual patterns of SNPs present in the baldness susceptibility locus at 20p11 (rs1160312 and rs6113491) or close to the androgen receptor (AR) gene in chromosome X (rs1041668) were investigated in 212 male subjects.
J Clin Med
January 2025
Department and Clinic of Paediatrics, Allergology and Cardiology, Wroclaw Medical University, ul. Chałubińskiego 2a, 50-368 Wrocław, Poland.
Allergic diseases commonly coexist, manifesting in a sequence described as the "allergic march". This study aimed to evaluate TSLP's and IL-1β's potential as biomarkers in both single and multi-pediatric atopic diseases like atopic eczema, food allergy, and anaphylaxis and analyze specific SNPs in the TSLP and IL-1β genes to determine their associations with their occurrence and severity. This analysis included 109 atopic children diagnosed with atopic dermatitis, food allergy, or anaphylaxis alongside a control group of 57 non-atopic children.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
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