Journal Article

DKFZ-2021-02237

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Genetic polymorphisms involved in mitochondrial metabolism and pancreatic cancer risk.

Peduzzi, G. ; Gentiluomo, M. ; Tavano, F. ; Arcidiacono, P. G. ; Ermini, S. ; Vodicka, P. ; Boggi, U. ; Cavestro, G. M. ; Capurso, G. ; Morelli, L. ; Milanetto, A. C. ; Pezzilli, R. ; Lawlor, R. T. ; Carrara, S. ; Lovecek, M. ; Souček, P. ; Guo, F.DKFZ* ; Hackert, T. ; Uzunoglu, F. G. ; Gazouli, M. ; Párniczky, A. ; Kupcinskas, J. ; Bijlsma, M. F. ; Bueno-de-Mesquita, B. ; Vermeulen, R. ; van Eijck, C. H. J. ; Jamroziak, K. ; Talar-Wojnarowska, R. ; Greenhalf, W. ; Gioffreda, D. ; Petrone, M. C. ; Landi, S. ; Archibugi, L. ; Puzzono, M. ; Funel, N. ; Sperti, C. ; Piredda, M. L. ; Mohelnikova-Duchonova, B. ; Lu, Y.DKFZ* ; Hlavac, V. ; Gào, X.DKFZ* ; Schneider, M. ; Izbicki, J. R. ; Theodoropoulos, G. ; Bunduc, S. ; Kreivenaite, E. ; Busch, O. R. ; Małecka-Panas, E. ; Costello, E. ; Perri, F. ; Testoni, S. G. G. ; Vanella, G. ; Pasquali, C. ; Oliverius, M. ; Brenner, H.DKFZ* ; Loos, M. ; Götz, M. ; Georgiou, K. ; Erőss, B. ; Maiello, E. ; Szentesi, A. ; Bazzocchi, F. ; Basso, D. ; Neoptolemos, J. P. ; Hegyi, P. ; Kiudelis, V. ; Canzian, F.DKFZ* ; Campa, D.

2021
AACR Philadelphia, Pa.

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Please use a persistent id in citations: doi:10.1158/1055-9965.EPI-21-0353

Abstract: 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.

Note: 2021 Dec;30(12):2342-2345

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Contributing Institute(s):

1. C070 Klinische Epidemiologie und Alternf. (C070)
2. Präventive Onkologie (C120)
3. DKTK HD zentral (HD01)
4. C055 Genomische Epidemiologie (C055)

Research Program(s):

1. 313 - Krebsrisikofaktoren und Prävention (POF4-313) (POF4-313)

Appears in the scientific report 2021

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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