Common variability in oestrogen-related genes and pancreatic ductal adenocarcinoma risk in women

0568757 - ÚEM 2023 RIV DE eng J - Článek v odborném periodiku
Peduzzi, G. - Archibugi, L. - Katzke, V. - Gentiluomo, M. - Capurso, G. - Milanetto, A.C. - Gazouli, M. - Goetz, M. - Brenner, H. - Vermeulen, R.C.H. - Talar-Wojnarowska, R. - Lucchesi, M. - Mohelníková-Duchoňová, B. - Chen, X. - Kiudelis, V. - Hegyi, P. - Oliverius, M. - Stocker, H. - Stornello, C. - Vodičková, Ludmila - Souček, P. - Neoptolemos, J.P. - Testoni, S.G.G. - Morelli, L. - Lawlor, R.T. … celkem 46 autorů
Common variability in oestrogen-related genes and pancreatic ductal adenocarcinoma risk in women.
Scientific Reports. Roč. 12, č. 1 (2022), č. článku 18100. ISSN 2045-2322. E-ISSN 2045-2322
Grant CEP: GA MZd(CZ) NU21-07-00247
Institucionální podpora: RVO:68378041
Klíčová slova: genome-wide association * exogenous hormone USE * prostate-cancer risk * reproductive factors * susceptibility loci * polymorphisms * variantsliverestradiol * NR5A2
Obor OECD: Genetics and heredity (medical genetics to be 3)
Impakt faktor: 4.6, rok: 2022
Způsob publikování: Open access
https://www.nature.com/articles/s41598-022-22973-9

The incidence of pancreatic ductal adenocarcinoma (PDAC) is different among males and females. This disparity cannot be fully explained by the difference in terms of exposure to known risk factors, therefore, the lower incidence in women could be attributed to sex-specific hormones. A two-phase association study was conducted in 12,387 female subjects (5436 PDAC cases and 6951 controls) to assess the effect on risk of developing PDAC of single nucleotide polymorphisms (SNPs) in 208 genes involved in oestrogen and pregnenolone biosynthesis and oestrogen-mediated signalling. In the discovery phase 14 polymorphisms showed a statistically significant association (P < 0.05). In the replication none of the findings were validated. In addition, a gene-based analysis was performed on the 208 selected genes. Four genes (NR5A2, MED1, NCOA2 and RUNX1) were associated with PDAC risk, but only NR5A2 showed an association (P = 4.08 x 10(-5)) below the Bonferroni-corrected threshold of statistical significance. In conclusion, despite differences in incidence between males and females, our study did not identify an effect of common polymorphisms in the oestrogen and pregnenolone pathways in relation to PDAC susceptibility. However, we validated the previously reported association between NR5A2 gene variants and PDAC risk.
Trvalý link: https://hdl.handle.net/11104/0340029