Objective: To evaluate the relationship between five single nucleotide polymorphism loci in the MGMT, XPA, XPD and XPG genes and the prevalence of non-Hodgkin's lymphoma.
Methods: A case-control study of 73 lymphoma cases and 500 healthy controls was conducted and the Mass-ARRAY method was applied for detection of MGMT L84F, MGMT K178R, XPA TSS+62, XPD K751Q and XPG TSS+372.
Results: MGMT L84F (T allele) was associated with an increased risk of non-Hodgkin lymphoma (OR=2.085, 95%CI=1.069-4.068, P=0.029), mainly in B-cell lymphoma, of which the risk increased by 2.403-fold (OR=2.403, 95%CI=1.103-5.235, P=0.024). No statistically significance was found for MGMT K178R, XPA TSS+62, XPD K751Q and XPG TSS+372.
Conclusion: Single nucleotide polymorphism in the MGMT gene may closely related to the occurrence of non-Hodgkin lymphoma, especially of B-cell subtype.
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Genome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFSci Rep
January 2025
USDA-ARS National Peanut Research Laboratory, 1011 Forrester Dr. S.E, 39842, Dawson, GA, USA.
Cercosporidium personatum (CP) causes peanut late leaf spot (LLS) disease with 70% yield losses unless controlled by fungicides. CP grows slowly in culture, exhibiting variable phenotypes. To explain those variations, we analyzed the morphology, genomes, transcriptomes and chemical composition of three morphotypes, herein called RED, TAN, and BROWN.
View Article and Find Full Text PDFMycopathologia
January 2025
Department of Medical Microbiology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Trichophyton indotineae, first identified in India, has increasingly been reported in Asia, the Middle East, Europe, and recently in the USA. The global spread of terbinafine-resistant T. indotineae underscores the urgency of the issue.
View Article and Find Full Text PDFFunct Integr Genomics
January 2025
INRAE, Genetics, Diversity and Ecophysiology of Cereals, Université Clermont Auvergne, 63000, Clermont-Ferrand, France.
The agronomical interest of hybrid wheat has long been a matter of debate. Compared to maize where hybrids have been successfully grown for decades, the mixed results obtained in wheat have been attributed at least partially to the lack of heterotic groups. The wheat genome is known to be strongly partitioned and characterized by numerous presence/absence variations and alien introgressions which have not been thoroughly considered in hybrid breeding.
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