TY  - JOUR
AU  - Peduzzi, Giulia
AU  - Gentiluomo, Manuel
AU  - Tavano, Francesca
AU  - Arcidiacono, Paolo Giorgio
AU  - Ermini, Stefano
AU  - Vodicka, Pavel
AU  - Boggi, Ugo
AU  - Cavestro, Giulia Martina
AU  - Capurso, Gabriele
AU  - Morelli, Luca
AU  - Milanetto, Anna Caterina
AU  - Pezzilli, Raffaele
AU  - Lawlor, Rita T
AU  - Carrara, Silvia
AU  - Lovecek, Martin
AU  - Souček, Pavel
AU  - Guo, Feng
AU  - Hackert, Thilo
AU  - Uzunoglu, Faik G
AU  - Gazouli, Maria
AU  - Párniczky, Andrea
AU  - Kupcinskas, Juozas
AU  - Bijlsma, Maarten F
AU  - Bueno-de-Mesquita, Bas
AU  - Vermeulen, Roel
AU  - van Eijck, Casper H J
AU  - Jamroziak, Krzysztof
AU  - Talar-Wojnarowska, Renata
AU  - Greenhalf, William
AU  - Gioffreda, Domenica
AU  - Petrone, Maria Chiara
AU  - Landi, Stefano
AU  - Archibugi, Livia
AU  - Puzzono, Marta
AU  - Funel, Niccola
AU  - Sperti, Cosimo
AU  - Piredda, Maria Liliana
AU  - Mohelnikova-Duchonova, Beatrice
AU  - Lu, Ye
AU  - Hlavac, Viktor
AU  - Gào, Xīn
AU  - Schneider, Martin
AU  - Izbicki, Jakob R
AU  - Theodoropoulos, George
AU  - Bunduc, Stefania
AU  - Kreivenaite, Edita
AU  - Busch, Olivier R
AU  - Małecka-Panas, Ewa
AU  - Costello, Eithne
AU  - Perri, Francesco
AU  - Testoni, Sabrina Gloria Giulia
AU  - Vanella, Giuseppe
AU  - Pasquali, Claudio
AU  - Oliverius, Martin
AU  - Brenner, Hermann
AU  - Loos, Martin
AU  - Götz, Mara
AU  - Georgiou, Konstantinos
AU  - Erőss, Bálint
AU  - Maiello, Evaristo
AU  - Szentesi, Andrea
AU  - Bazzocchi, Francesca
AU  - Basso, Daniela
AU  - Neoptolemos, John P
AU  - Hegyi, Peter
AU  - Kiudelis, Vytautas
AU  - Canzian, Federico
AU  - Campa, Daniele
TI  - Genetic polymorphisms involved in mitochondrial metabolism and pancreatic cancer risk.
JO  - Cancer epidemiology, biomarkers & prevention
VL  - 30
IS  - 12
SN  - 1538-7755
CY  - Philadelphia, Pa.
PB  - AACR
M1  - DKFZ-2021-02237
SP  - 2342-2345
PY  - 2021
N1  - 2021 Dec;30(12):2342-2345
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:34526302
DO  - DOI:10.1158/1055-9965.EPI-21-0353
UR  - https://inrepo02.dkfz.de/record/177007
ER  -