Clostridioides difficile (C. diff.) infection (CDI) is a leading cause of hospital acquired diarrhea in North America and Europe and a major cause of morbidity and mortality. Known risk factors do not fully explain CDI susceptibility, and genetic susceptibility is suggested by the fact that some patients with colons that are colonized with C. diff. do not develop any infection while others develop severe or recurrent infections. To identify common genetic variants associated with CDI, we performed a genome-wide association analysis in 19,861 participants (1349 cases; 18,512 controls) from the Electronic Medical Records and Genomics (eMERGE) Network. Using logistic regression, we found strong evidence for genetic variation in the DRB locus of the MHC (HLA) II region that predisposes individuals to CDI (P > 1.0 × 10; OR 1.56). Altered transcriptional regulation in the HLA region may play a role in conferring susceptibility to this opportunistic enteric pathogen.
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http://dx.doi.org/10.1038/s41598-023-45649-4 | DOI Listing |
Malays J Pathol
December 2024
National Institutes of Health, Institute for Medical Research, Cancer Research Centre, Haematology Unit, 40170 Shah Alam, Selangor, Malaysia.
Introduction: The emergence of mutations in the BCR::ABL1 kinase domain (KD) impairs imatinib mesylate (IM) binding capacity, thus contributing to IM resistance. Identification of these mutations is important for treatment decisions and precision medicine in chronic myeloid leukaemia (CML) patients. Our study aims to determine the frequency of BCR::ABL1 KD mutations in CML patients with IM resistance.
View Article and Find Full Text PDFMalays J Pathol
December 2024
Universiti Sains Malaysia, School of Medical Sciences, Human Genome Centre, Health Campus, Kelantan, Malaysia.
Multiple myeloma (MM), a clonal B-cell neoplasia, is an incurable and heterogeneous disease where survival ranges from a few months to more than 10 years. The clinical heterogeneity of MM arises from multiple genomic events that result in tumour development and progression. Recurring genomic abnormalities including cytogenetic abnormalities, gene mutations and abnormal gene expression profiles in myeloma cells have a strong prognostic power.
View Article and Find Full Text PDFAnn Med
December 2025
Department of Anatomy, College of Medicine, King Khalid University, Abha, Saudi Arabia.
Background: Substance use disorders are multifaceted conditions influenced by both genetic and environmental factors. Serotonergic pathways are known to be involved in substance use disorder susceptibility, with genetic markers within serotonin receptor genes identified as potential risk factors.
Methods: To further explore this relationship, we conducted a study to investigate the association between several polymorphisms in five serotonin receptor genes (, , ) and substance use disorders (SUD) in Jordanian males by sequencing genotypes in 496 SUD patients and 496 healthy controls.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
BMC Infect Dis
December 2024
Xi'an Chest Hospital, Xi'an, Shaanxi Province, China.
Objectives: This study evaluates the effectiveness of nanopore sequencing for accurate detection of Mycobacterium tuberculosis pathogens and drug resistance mutations in clinical specimens.
Methods: A retrospective analysis of 2,421 specimens from suspected tuberculosis patients admitted to Xi'an Chest Hospital from 2022 to 2023 was conducted, with 131 specimens undergoing via real-time, fluorescence-based quantitative Polymerase Chain Reaction (qPCR), simultaneous amplification and testing RNA (RNA), Mycobacterium culture, Mycobacterium smear, and nanopore sequencing. Employing clinical tuberculosis diagnoses as the gold standard, sensitivity, specificity, positive predictive value, negative predictive value, concordance rate, and Kappa coefficient were measured for the five detection techniques.
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