Background: The variability in patients' risk of oral mucositis (OM) has been, in part, attributed to differences in host genomics. The aim better define the role of genomics as an OM risk by investigating the association between genetic variants and the presence and severity of OM in pediatric patients with osteosarcoma (OS) undergoing chemotherapy (CT).
Methods: A longitudinal observational retrospective study was conducted. Severity of OM was assessed daily using World Health Organization (WHO) criteria. Blood samples were collected, and DNA was extracted. 54 coding regions were analyzed for 17 candidate genes using next-generation sequencing.
Results: A total of 164 CT cycles were evaluated in 14 pediatric patients being treated for OS with HDMTX (66.9%) and doxorubicin + cisplatin (34.1%). OM was diagnosed in 129 cycles (78.7%). Whereas the presence of OM was associated with ABCA3 (rs13332514) in HDMTX cycles, OM severity was associated with ABCC2 (rs2273697) in multivariate analysis. In doxorubicin + cisplatin, genetic variants of ABC family genes (ABCC2 and ABCC6) were associated with OM in multivariate analysis.
Conclusion: Oral mucositis risk and severity in a pediatric population being treated for OS with HDMTX, doxorubicin, and cisplatin were associated with genes in the ABC family (ABCA3, ABCC2, and ABCC6 genes).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/odi.15217 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Physiological shedding and C-terminal proteolytic processing of TMEM106B.
Cell Rep
December 2024
Institute of Biochemistry, Christian-Albrechts-University Kiel, Olshausenstrasse 40, 24118 Kiel, Germany. Electronic address:
Genetic variants in TMEM106B, coding for a transmembrane protein of unknown function, have been identified as critical genetic modulators in various neurodegenerative diseases with a strong effect in patients with frontotemporal degeneration. The luminal domain of TMEM106B can form amyloid-like fibrils upon proteolysis. Whether this luminal domain is generated under physiological conditions and which protease(s) are involved in shedding remain unclear.
View Article and Find Full Text PDFGenetic predisposition to nephropathy and associated cardiovascular disease in people with type 1 diabetes: role of the angiotensinI-converting enzyme (ACE), and beyond; a narrative review.
Cardiovasc Diabetol
December 2024
INSERMU1138-Centre de Recherche Des Cordeliers, Paris Cite University, Sorbonne University, 75006, Paris, France.
Hypertension, cardiovascular disease and kidney failure are associated with persistent hyperglycaemia and the subsequent development of nephropathy in people with diabetes. Diabetic nephropathy is associated with widespread vascular disease affecting both the kidney and the heart from an early stage. However, the risk of diabetic nephropathy in people with type 1 diabetes is strongly genetically determined, as documented in familial transmission studies.
View Article and Find Full Text PDFSYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with coronary heart disease.
BMC Cardiovasc Disord
December 2024
Heart Center & Beijing Key Laboratory of Hypertension, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People's Republic of China.
Background: Familial hypercholesterolemia (FH) is a genetically inherited disorder caused by monogenic mutations or polygenic deleterious variants. Patients with FH innate with significantly elevated risks for coronary heart disease (CHD). FH prevalence based on genetic testing in Chinese CHD patients is missing.
View Article and Find Full Text PDFHeterozygous Inversion on Chromosome 17 involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria.
Eur J Med Genet
December 2024
Department of Pediatric Rehabilitation, Qingdao Women & Children's Hospital, Qingdao University, Qingdao, China. Electronic address:
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.
View Article and Find Full Text PDFMolecular and Clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan Syndrome in a Novel Patient Cohort.
Eur J Med Genet
December 2024
Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!