Development of a custom next-generation sequencing panel for the determination of bladder cancer risk in a Tunisian cohort.
Aged
Aged, 80 and over
Case-Control Studies
Cohort Studies
Female
Gene Expression
/ genetics
Gene Expression Profiling
/ methods
Gene Expression Regulation, Neoplastic
/ genetics
Genetic Predisposition to Disease
/ genetics
Genetic Testing
/ methods
Genotype
High-Throughput Nucleotide Sequencing
/ methods
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
/ genetics
Risk Factors
Transcriptome
/ genetics
Tunisia
/ epidemiology
Urinary Bladder
/ pathology
Urinary Bladder Neoplasms
/ diagnosis
Bladder cancer
NGS
Panel
SNP
Tobacco
Tunisia
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
23
08
2021
accepted:
09
11
2021
pubmed:
3
12
2021
medline:
29
3
2022
entrez:
2
12
2021
Statut:
ppublish
Résumé
Bladder cancer (BCa) is a heterogeneous disease caused by the interaction between environmental and genetic risk factors. The goal of this case-control study was to evaluate the implication of a selected SNP panel in the risk of BCa development in a Tunisian cohort. We were also interested in studying the interaction between this predictive panel and environmental risk factors. The case/control cohort was composed with 249 BCa cases and 255 controls. The designed Bladder cancer hereditary panel (BCHP) was composed of 139 selected variants. These variants were genotyped by an amplification-based targeted Next-Generation Sequencing (NGS) on the Ion Torrent Proton sequencer (Life Technologies, Ion Torrent technology). We have found that rs162555, rs2228000, rs10936599, rs710521, rs3752645, rs804276, rs4639, rs4881400 and rs288980 were significantly associated with decreased risk of bladder cancer. However the homozygous genotypes for VPS37C (rs7104333, A/A), MPG (rs1013358, C/C) genes or the heterozygous genotype for ARNT gene (rs1889740, rs2228099, rs2256355, rs2864873), GSTA4 (rs17614751) and APOBR/IL27 (rs17855750) were significantly associated with increased risk of bladder cancer development compared to reference group (OR 2.53, 2.34, 1.99, 2.00, 2.00, 1.47, 1.96 and 2.27 respectively). We have also found that non-smokers patients harboring heterozygous genotypes for ARNT/rs2864873 (A > G), ARNT/ rs1889740 (C > T) or GSTA4/rs17614751 (G-A) were respectively at 2.775, 3.069 and 6.608-fold increased risk of Bca development compared to non-smokers controls with wild genotypes. Moreover the ARNT CT (rs1889740), ARNT CG (rs2228099), ARNT TC (rs2864873) and GSS GA genotypes were associated with an increased risk of BCa even in absence of professional risk factors. Finally the decision-tree analysis produced a three major BCa classes. These three classes were essentially characterized by an intensity of tobacco use more than 20 pack years (PY) and the CYP1A2 (rs762551) genotype. The determined association between environmental factors, genetic variations and the risk of Bca development may provide additional information to urologists that may help them for clinical assessment and treatment decisions. Nevertheless, the underlying mechanisms through which these genes or SNPs affect the clinical behavior of BCas require further studies.
Identifiants
pubmed: 34854013
doi: 10.1007/s11033-021-06951-4
pii: 10.1007/s11033-021-06951-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1233-1258Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Nature B.V.
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