ArticleOncotarget2016
Genetic variants associated with gastrointestinal symptoms in Fabry disease.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Pooled it
- Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis.Clinical kidney journal · 2025Article
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- Beyond COVID-19 pandemic: Topology-aware optimization of vaccination strategy for minimizing virus spreading.Computational and structural biotechnology journal · 2022Article
- Using MMRFBiolinks R-Package for Discovering Prognostic Markers in Multiple Myeloma.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Fabry disease and kidney involvement: starting from childhood to understand the future.Pediatric nephrology (Berlin, Germany) · 2022Review
- Autoimmune colitis and neutropenia in adjuvant anti-PD-1 therapy for malignant melanoma: efficacy of Vedolizumab, a case report.Therapeutic advances in chronic disease · 2022Article
- Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.International journal of environmental research and public health · 2021Review
- Pharmacogenomics Biomarker Discovery and Validation for Translation in Clinical Practice.Clinical and translational science · 2021Review
- Non-coding RNAs in cancer: platforms and strategies for investigating the genomic "dark matter".Journal of experimental & clinical cancer research : CR · 2020Review
- DMETHigh-throughput · 2020Review
- An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor.The pharmacogenomics journal · 2019Article
- Pharmacogenomic Profiling of ADME Gene Variants: Current Challenges and Validation Perspectives.High-throughput · 2018Review
- Genetic variants associated with Fabry disease progression despite enzyme replacement therapy.Oncotarget · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly understood. To shed light either on differential clinical presentation or on intervariability of GIS in FD, we genotyped 1936 genetic markers across 231 genes that encode for drug-metabolizing enzymes and drug transport proteins in 49 FD patients, using the DMET Plus platform. All nine single nucleotide polymorphisms (SNPs) mapped within four genes showed statistically significant differences in genotype frequencies between FD patients who experienced GIS and patients without GIS: ABCB11 (odd ratio (OR) = 18.07, P = 0,0019; OR = 8.21, P = 0,0083; OR=8.21, P = 0,0083; OR = 8.21, P = 0,0083),SLCO1B1 (OR = 9.23, P = 0,0065; OR = 5.08, P = 0,0289; OR = 8.21, P = 0,0083), NR1I3 (OR = 5.40, P = 0,0191) and ABCC5 (OR = 14.44, P = 0,0060). This is the first study that investigates the relationships between genetic heterogeneity in drug absorption, distribution, metabolism and excretion (ADME) related genes and GIS in FD. Our findings provide a novel genetic variant framework which warrants further investigation for precision medicine in FD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.