ArticleBMC cancer2020
Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry.
Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Inflammatory response in dairy cows caused by heat stress and biological mechanisms for maintaining homeostasis.PloS one · 2024Article
- Comprehensive prognostic and immune analysis of a glycosylation related risk model in pancreatic cancer.BMC cancer · 2023Article
- Emerging glyco-risk prediction model to forecast response to immune checkpoint inhibitors in colorectal cancer.Journal of cancer research and clinical oncology · 2023Article
- Multivariate piecewise linear regression model to predict radiosensitivity using the association with the genome-wide copy number variation.Frontiers in oncology · 2023Article
- GPI-anchored glutathione S-transferase as marker allows affinity sorting of transfection-positive cells.Frontiers in molecular biosciences · 2022Article
- Article
- A Ten-year-long Update on Radiation Proctitis Among Prostate Cancer Patients Treated With Curative External Beam Radiotherapy.In vivo (Athens, Greece)Review
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6 authors at 2 institutions in 1 country.
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Abstract
backgroundProctitis is an inflammation of the rectum and may be induced by radiation treatment for cancer. The genetic heritability of developing radiotoxicity and prior role of genetic variants as being associated with side-effects of radiotherapy necessitates further investigation for underlying molecular mechanisms. In this study, we investigated gene expression regulated by genetic variants, and copy number variation in prostate cancer survivors with radiotoxicity.
methodsWe investigated proctitis as a radiotoxic endpoint in prostate cancer patients who received radiotherapy (n = 222). We analyzed the copy number variation and genetically regulated gene expression profiles of whole-blood and prostate tissue associated with proctitis. The SNP and copy number data were genotyped on Affymetrix® Genome-wide Human SNP Array 6.0. Following QC measures, the genotypes were used to obtain gene expression by leveraging GTEx, a reference dataset for gene expression association based on genotype and RNA-seq information for prostate (n = 132) and whole-blood tissue (n = 369).
resultsIn prostate tissue, 62 genes were significantly associated with proctitis, and 98 genes in whole-blood tissue. Six genes - CABLES2, ATP6AP1L, IFIT5, ATRIP, TELO2, and PARD6G were common to both tissues. The copy number analysis identified seven regions associated with proctitis, one of which (ALG1L2) was also associated with proctitis based on transcriptomic profiles in the whole-blood tissue. The genes identified via transcriptomics and copy number variation association were further investigated for enriched pathways and gene ontology. Some of the enriched processes were DNA repair, mitochondrial apoptosis regulation, cell-to-cell signaling interaction processes for renal and urological system, and organismal injury.
conclusionsWe report gene expression changes based on genetic polymorphisms. Integrating gene-network information identified these genes to relate to canonical DNA repair genes and processes. This investigation highlights genes involved in DNA repair processes and mitochondrial malfunction possibly via inflammation. Therefore, it is suggested that larger studies will provide more power to infer the extent of underlying genetic contribution for an individual's susceptibility to developing radiotoxicity.
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