The genetic polymorphism of two salivary enzymes (esterase and alpha-amylase) was studied in individuals from eight districts of Greece. The pooled gene frequencies were: SetS = 0.63, SetF = 0.37, AMY1 = 0.87, AMY2 = 0.10, AMY3 = 0.02, and AMY4 = 0.01. There was no intrapopulation heterogeneity, while there was a significant difference between the Greeks and the few other European populations studied.
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http://dx.doi.org/10.1159/000154163 | DOI Listing |
J Psychiatr Res
January 2025
Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Medical Humanities and Social Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address:
Background: Adverse childhood events (ACEs) have been associated with an increased risk of psychiatric disorders in young adulthood. To identify at-risk individuals and potential strategies to combat the negative impacts of ACE, this study investigated the mediating role of exercise in the relationship between psychological distress and ACEs. Further, we examined the moderating effect of the BDNF polymorphism in the mediation relationship.
View Article and Find Full Text PDFCell Genom
January 2025
Department of Genetics, Yale School of Medicine, New Haven, CT, USA. Electronic address:
Salivary and pancreatic amylase are encoded by AMY1 and AMY2, respectively, which are located within a single genomic locus that has undergone substantial structural variation, resulting in varying gene copy numbers across species. Using optical genome mapping and long-read sequencing, Yilmaz, Karageorgiou, Kim, et al. achieved nucleotide-level resolution of this locus across different human populations, offering new insights into how copy number variation contributes to human adaptation.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Tumor Biology and Genetics, Medical University of Warsaw, Warsaw, Poland.
Aim: The study was designed to evaluate molecular alterations, relevant to the prognosis and personalized therapy of salivary gland cancers (SGCs).
Materials And Methods: DNA was extracted from archival tissue of 40 patients with various SGCs subtypes. A targeted next-generation sequencing (NGS) panel was used for the identification of small-scale mutations, focal and chromosomal arm-level copy number changes.
J Zhejiang Univ Sci B
December 2024
Department of Oral Pathology, Peking University School and Hospital of Stomatology / National Center of Stomatology / National Clinical Research Center for Oral Diseases / National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
In light of the lack of reliable molecular markers for odontogenic myxoma (OM), the detection of copy number variation (CNV) may present a more objective method for assessing ambiguous cases. In this study, we employed multiregional microdissection sequencing to integrate morphological features with genomic profiling. This allowed us to reveal the CNV profiles of OM and compare them with dental papilla (DP), dental follicle (DF), and odontogenic fibroma (OF) tissues.
View Article and Find Full Text PDFRadiother Oncol
February 2025
Department of Radiation Oncology, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland; Graduate School for Health Sciences, University of Bern, Switzerland. Electronic address:
Background: Radiotherapy is essential for treating head and neck cancer but often leads to severe toxicity. Traditional predictors include anatomical location, tumor extent, and dosimetric data. Recently, biomarkers have been explored to better predict and understand toxicity.
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