Genetic polymorphisms involved in mitochondrial metabolism and pancreatic cancer risk

The mitochondrial metabolism has been associated with pancreatic ductal adenocarcinoma (PDAC) risk. Recent evidence also suggests the involvement of the genetic variability of the mitochondrial function in several traits involved in PDAC aetiology. However, a systematic investigation of the genetic...

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Elmentve itt :
Bibliográfiai részletek
Szerzők: Peduzzi Giulia
Gentiluomo Manuel
Tavano Francesca
Arcidiacono Paolo Giorgio
Ermini Stefano
Párniczky Andrea
Bunduc Stefania
Erőss Bálint Mihály
Szentesi Andrea Ildikó
Hegyi Péter
et al
Dokumentumtípus: Cikk
Megjelent: 2021
Sorozat:CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION 30 No. 12
Tárgyszavak:
doi:10.1158/1055-9965.EPI-21-0353

mtmt:32337467
Online Access:http://publicatio.bibl.u-szeged.hu/27225
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520 3 |a The mitochondrial metabolism has been associated with pancreatic ductal adenocarcinoma (PDAC) risk. Recent evidence also suggests the involvement of the genetic variability of the mitochondrial function in several traits involved in PDAC aetiology. However, a systematic investigation of the genetic variability of mitochondrial genome (mtSNPs) and of all the nuclear genes involved in its functioning (n-mtSNPs) has never been reported.We conducted a two-phase association study of mtSNPs and n-mtSNPs to assess their effect on PDAC risk. We analysed 35,297 n-mtSNPs and 101 mtSNPs in up to 55,870 individuals (12,884 PDAC cases and 42,986 controls). In addition, we also conducted a gene-based analysis on 1,588 genes involved in mitochondrial metabolism using MAGMA software.In the discovery phase we identified 49 n-mtSNPs and no mtSNPs associated with PDAC risk (P <0.05). In the second phase none of the findings were replicated. In the gene-level analysiswe observed that three genes (TERT, SUGCT and SURF1) involved in the mitochondrial metabolismshowed an association below the Bonferroni-corrected threshold of statistical significance (P=0.05/1588=3.1 x10-5).Even though the mitochondrial metabolism might be involved in PDAC aetiology, our results, obtained in a study with one of the largest sample sizes to date, show that neither n-mtSNPs nor mtSNPs are associated with PDAC risk.This large case-control study does not support a role of the genetic variability of the mitochondrial function in PDAC risk. 
650 4 |a Klinikai orvostan 
700 0 1 |a Gentiluomo Manuel  |e aut 
700 0 1 |a Tavano Francesca  |e aut 
700 0 1 |a Arcidiacono Paolo Giorgio  |e aut 
700 0 1 |a Ermini Stefano  |e aut 
700 0 1 |a Párniczky Andrea  |e aut 
700 0 1 |a Bunduc Stefania  |e aut 
700 0 1 |a Erőss Bálint Mihály  |e aut 
700 0 1 |a Szentesi Andrea Ildikó  |e aut 
700 0 1 |a Hegyi Péter  |e aut 
700 0 1 |a et al.  |e aut 
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