Objectives: To determine the role of two genetic variants, (rs3804594) and (rs1801725), in calcium sensing receptor () gene with colorectal cancer (CRC) risk in patients visited King Abdulaziz University hospital (KAUH) in Jeddah, Saudi Arabia.
Methods: Genomic DNA was extracted, by commercial DNA extraction kit, from whole blood of 100 CRC patients and 124 controls who visited KAUH from January 2016 to September 2016. Then genotype and allele distributions of both variants were determined by PCR-RFLP and DNA sequencing techniques. All statistical analyses were performed by unpaired t-test and -values <0.05 were considered statistically significant.
Results: Data obtained from χ test showed that intron 4 variant in gene was distributed 100% normally in the 224 participants, however, exon 7 variant showed 100% homozygous distribution in the controls; whereas, in CRC patients it was distributed equally into 50% heterozygous and 50% homozygous with no detection for wild type.
Conclusion: Intron 4 variant (rs3804594) in gene is not correlated to CRC risk. However, more investigations are needed to elucidate the role of gene exon 7 (rs1801725) variant in CRC development as the current results are not definitive.
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http://dx.doi.org/10.12669/pjms.35.2.38 | DOI Listing |
Water Res
January 2025
Faculty of Geosciences and Civil Engineering, Kanazawa University, Kanazawa 920-1192, Japan; Center for Infectious Disease Education and Research (CiDER), Osaka University, 565-0871, Japan. Electronic address:
Treated effluent of wastewater treatment plants (WWTPs) are major sources of extracellular antimicrobial resistance genes (eARGs) into aquatic environments. This study aimed to clarify the fate and origins of eARGs from influent to treated effluent at a full-scale WWTP. The compositions of eARG and intracellular ARG (iARG) were acquired via shotgun metagenomic sequencing in influent wastewater, activated sludge, and treated effluent of the target WWTP, where identical wastewater was treated by conventional activated sludge (CAS) and membrane bioreactor (MBR) processes.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Respiratory and Critical Care Medicine, Zhongshan City People's Hospital, Zhongshan, Guangdong Province, China.
Rationale: ROS proto-oncogene 1 (ROS1) fusion is a rare but important driver mutation in non-small cell lung cancer, which usually shows significant sensitivity to small molecule tyrosine kinase inhibitors. With the widespread application of next-generation sequencing (NGS), more fusions and co-mutations of ROS1 have been discovered. Non-muscle myosin heavy chain 9 (MYH9) is a rare fusion partner of ROS1 gene as reported.
View Article and Find Full Text PDFBlood
January 2025
Division of Immunology and Allergy, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.
View Article and Find Full Text PDFJCO Precis Oncol
January 2025
Karmanos Cancer Institute and Department of Oncology, Wayne State University School of Medicine, Detroit, MI.
Purpose: Although lung cancer is one of the most common malignancies, the underlying genetics regarding susceptibility remain poorly understood. We characterized the spectrum of pathogenic/likely pathogenic (P/LP) germline variants within DNA damage response (DDR) genes among lung cancer cases and controls in non-Hispanic Whites (NHWs) and African Americans (AAs).
Materials And Methods: Rare, germline variants in 67 DDR genes with evidence of pathogenicity were identified using the ClinVar database.
PLoS Pathog
January 2025
Department of Microbiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
SARS-CoV-2 continues to transmit and evolve in humans and animals. White-tailed deer (Odocoileus virginianus) have been previously identified as a zoonotic reservoir for SARS-CoV-2 with high rates of infection and probable spillback into humans. Here we report sampling 1,127 white-tailed deer (WTD) in Pennsylvania, and a genomic analysis of viral dynamics spanning 1,017 days between April 2021 and January 2024.
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