PortalPublikationenIdentification of Recessively Inherited Genetic Variants Pot...

Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk

Standard

Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk. / Lu, Ye; Gentiluomo, Manuel; Macauda, Angelica; Gioffreda, Domenica; Gazouli, Maria; Petrone, Maria C; Kelemen, Dezső; Ginocchi, Laura; Morelli, Luca; Papiris, Konstantinos; Greenhalf, William; Izbicki, Jakob R; Kiudelis, Vytautas; Mohelníková-Duchoňová, Beatrice; Bueno-de-Mesquita, Bas; Vodicka, Pavel; Brenner, Hermann; Diener, Markus K; Pezzilli, Raffaele; Ivanauskas, Audrius; Salvia, Roberto; Szentesi, Andrea; Aoki, Mateus Nóbrega; Németh, Balázs C; Sperti, Cosimo; Jamroziak, Krzysztof; Chammas, Roger; Oliverius, Martin; Archibugi, Livia; Ermini, Stefano; Novák, János; Kupcinskas, Juozas; Strouhal, Ondřej; Souček, Pavel; Cavestro, Giulia M; Milanetto, Anna C; Vanella, Giuseppe; Neoptolemos, John P; Theodoropoulos, George E; van Laarhoven, Hanneke W M; Mambrini, Andrea; Moz, Stefania; Kala, Zdenek; Loveček, Martin; Basso, Daniela; Uzunoglu, Faik G; Hackert, Thilo; Testoni, Sabrina G G; Hlaváč, Viktor; Andriulli, Angelo; Lucchesi, Maurizio; Tavano, Francesca; Carrara, Silvia; Hegyi, Péter; Arcidiacono, Paolo G; Busch, Olivier R; Lawlor, Rita T; Puzzono, Marta; Boggi, Ugo; Guo, Feng; Małecka-Panas, Ewa; Capurso, Gabriele; Landi, Stefano; Talar-Wojnarowska, Renata; Strobel, Oliver; Gao, Xin; Vashist, Yogesh; Campa, Daniele; Canzian, Federico.

in: FRONT ONCOL, Jahrgang 11, 771312, 2021.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Lu, Y, Gentiluomo, M, Macauda, A, Gioffreda, D, Gazouli, M, Petrone, MC, Kelemen, D, Ginocchi, L, Morelli, L, Papiris, K, Greenhalf, W, Izbicki, JR, Kiudelis, V, Mohelníková-Duchoňová, B, Bueno-de-Mesquita, B, Vodicka, P, Brenner, H, Diener, MK, Pezzilli, R, Ivanauskas, A, Salvia, R, Szentesi, A, Aoki, MN, Németh, BC, Sperti, C, Jamroziak, K, Chammas, R, Oliverius, M, Archibugi, L, Ermini, S, Novák, J, Kupcinskas, J, Strouhal, O, Souček, P, Cavestro, GM, Milanetto, AC, Vanella, G, Neoptolemos, JP, Theodoropoulos, GE, van Laarhoven, HWM, Mambrini, A, Moz, S, Kala, Z, Loveček, M, Basso, D, Uzunoglu, FG, Hackert, T, Testoni, SGG, Hlaváč, V, Andriulli, A, Lucchesi, M, Tavano, F, Carrara, S, Hegyi, P, Arcidiacono, PG, Busch, OR, Lawlor, RT, Puzzono, M, Boggi, U, Guo, F, Małecka-Panas, E, Capurso, G, Landi, S, Talar-Wojnarowska, R, Strobel, O, Gao, X, Vashist, Y, Campa, D & Canzian, F 2021, 'Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk', FRONT ONCOL, Jg. 11, 771312. https://doi.org/10.3389/fonc.2021.771312

APA

Lu, Y., Gentiluomo, M., Macauda, A., Gioffreda, D., Gazouli, M., Petrone, M. C., Kelemen, D., Ginocchi, L., Morelli, L., Papiris, K., Greenhalf, W., Izbicki, J. R., Kiudelis, V., Mohelníková-Duchoňová, B., Bueno-de-Mesquita, B., Vodicka, P., Brenner, H., Diener, M. K., Pezzilli, R., ... Canzian, F. (2021). Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk. FRONT ONCOL, 11, [771312]. https://doi.org/10.3389/fonc.2021.771312

Vancouver

Lu Y, Gentiluomo M, Macauda A, Gioffreda D, Gazouli M, Petrone MC et al. Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk. FRONT ONCOL. 2021;11. 771312. https://doi.org/10.3389/fonc.2021.771312

Bibtex

@article{4d91258998b2497f850312a359daefaa,
title = "Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk",
abstract = "Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry. Six single nucleotide polymorphisms (SNPs) showed associations with pancreatic cancer risk according to a recessive model of inheritance. We replicated these variants in 3,212 cases and 3,470 controls collected from the PANcreatic Disease ReseArch (PANDoRA) consortium. The results of the meta-analyses confirmed that rs4626538 (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31) showed specific recessive effects (p<10-5) compared with the additive effects (p>10-3), although none of the six SNPs reached the conventional threshold for genome-wide significance (p < 5×10-8). Additional bioinformatic analysis explored the functional annotations of the SNPs and indicated a possible relationship between rs36018702 and expression of the BCL2L11 and BUB1 genes, which are known to be involved in pancreatic biology. Our findings, while not conclusive, indicate the importance of considering non-additive genetic models when performing GWAS analysis. The SNPs associated with pancreatic cancer in this study could be used for further meta-analysis for recessive association of SNPs and pancreatic cancer risk and might be a useful addiction to improve the performance of polygenic risk scores.",
author = "Ye Lu and Manuel Gentiluomo and Angelica Macauda and Domenica Gioffreda and Maria Gazouli and Petrone, {Maria C} and Dezs{\H o} Kelemen and Laura Ginocchi and Luca Morelli and Konstantinos Papiris and William Greenhalf and Izbicki, {Jakob R} and Vytautas Kiudelis and Beatrice Moheln{\'i}kov{\'a}-Ducho{\v n}ov{\'a} and Bas Bueno-de-Mesquita and Pavel Vodicka and Hermann Brenner and Diener, {Markus K} and Raffaele Pezzilli and Audrius Ivanauskas and Roberto Salvia and Andrea Szentesi and Aoki, {Mateus N{\'o}brega} and N{\'e}meth, {Bal{\'a}zs C} and Cosimo Sperti and Krzysztof Jamroziak and Roger Chammas and Martin Oliverius and Livia Archibugi and Stefano Ermini and J{\'a}nos Nov{\'a}k and Juozas Kupcinskas and Ond{\v r}ej Strouhal and Pavel Sou{\v c}ek and Cavestro, {Giulia M} and Milanetto, {Anna C} and Giuseppe Vanella and Neoptolemos, {John P} and Theodoropoulos, {George E} and {van Laarhoven}, {Hanneke W M} and Andrea Mambrini and Stefania Moz and Zdenek Kala and Martin Love{\v c}ek and Daniela Basso and Uzunoglu, {Faik G} and Thilo Hackert and Testoni, {Sabrina G G} and Viktor Hlav{\'a}{\v c} and Angelo Andriulli and Maurizio Lucchesi and Francesca Tavano and Silvia Carrara and P{\'e}ter Hegyi and Arcidiacono, {Paolo G} and Busch, {Olivier R} and Lawlor, {Rita T} and Marta Puzzono and Ugo Boggi and Feng Guo and Ewa Ma{\l}ecka-Panas and Gabriele Capurso and Stefano Landi and Renata Talar-Wojnarowska and Oliver Strobel and Xin Gao and Yogesh Vashist and Daniele Campa and Federico Canzian",
note = "Copyright {\textcopyright} 2021 Lu, Gentiluomo, Macauda, Gioffreda, Gazouli, Petrone, Kelemen, Ginocchi, Morelli, Papiris, Greenhalf, Izbicki, Kiudelis, Moheln{\'i}kov{\'a}-Ducho{\v n}ov{\'a}, Bueno-de-Mesquita, Vodicka, Brenner, Diener, Pezzilli, Ivanauskas, Salvia, Szentesi, Aoki, N{\'e}meth, Sperti, Jamroziak, Chammas, Oliverius, Archibugi, Ermini, Nov{\'a}k, Kupcinskas, Strouhal, Sou{\v c}ek, Cavestro, Milanetto, Vanella, Neoptolemos, Theodoropoulos, van Laarhoven, Mambrini, Moz, Kala, Love{\v c}ek, Basso, Uzunoglu, Hackert, Testoni, Hlav{\'a}{\v c}, Andriulli, Lucchesi, Tavano, Carrara, Hegyi, Arcidiacono, Busch, Lawlor, Puzzono, Boggi, Guo, Ma{\l}ecka-Panas, Capurso, Landi, Talar-Wojnarowska, Strobel, Gao, Vashist, Campa and Canzian.",
year = "2021",
doi = "10.3389/fonc.2021.771312",
language = "English",
volume = "11",
journal = "FRONT ONCOL",
issn = "2234-943X",
publisher = "Frontiers Media S. A.",

}

RIS

TY - JOUR

T1 - Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk

AU - Lu, Ye

AU - Gentiluomo, Manuel

AU - Macauda, Angelica

AU - Gioffreda, Domenica

AU - Gazouli, Maria

AU - Petrone, Maria C

AU - Kelemen, Dezső

AU - Ginocchi, Laura

AU - Morelli, Luca

AU - Papiris, Konstantinos

AU - Greenhalf, William

AU - Izbicki, Jakob R

AU - Kiudelis, Vytautas

AU - Mohelníková-Duchoňová, Beatrice

AU - Bueno-de-Mesquita, Bas

AU - Vodicka, Pavel

AU - Brenner, Hermann

AU - Diener, Markus K

AU - Pezzilli, Raffaele

AU - Ivanauskas, Audrius

AU - Salvia, Roberto

AU - Szentesi, Andrea

AU - Aoki, Mateus Nóbrega

AU - Németh, Balázs C

AU - Sperti, Cosimo

AU - Jamroziak, Krzysztof

AU - Chammas, Roger

AU - Oliverius, Martin

AU - Archibugi, Livia

AU - Ermini, Stefano

AU - Novák, János

AU - Kupcinskas, Juozas

AU - Strouhal, Ondřej

AU - Souček, Pavel

AU - Cavestro, Giulia M

AU - Milanetto, Anna C

AU - Vanella, Giuseppe

AU - Neoptolemos, John P

AU - Theodoropoulos, George E

AU - van Laarhoven, Hanneke W M

AU - Mambrini, Andrea

AU - Moz, Stefania

AU - Kala, Zdenek

AU - Loveček, Martin

AU - Basso, Daniela

AU - Uzunoglu, Faik G

AU - Hackert, Thilo

AU - Testoni, Sabrina G G

AU - Hlaváč, Viktor

AU - Andriulli, Angelo

AU - Lucchesi, Maurizio

AU - Tavano, Francesca

AU - Carrara, Silvia

AU - Hegyi, Péter

AU - Arcidiacono, Paolo G

AU - Busch, Olivier R

AU - Lawlor, Rita T

AU - Puzzono, Marta

AU - Boggi, Ugo

AU - Guo, Feng

AU - Małecka-Panas, Ewa

AU - Capurso, Gabriele

AU - Landi, Stefano

AU - Talar-Wojnarowska, Renata

AU - Strobel, Oliver

AU - Gao, Xin

AU - Vashist, Yogesh

AU - Campa, Daniele

AU - Canzian, Federico

N1 - Copyright © 2021 Lu, Gentiluomo, Macauda, Gioffreda, Gazouli, Petrone, Kelemen, Ginocchi, Morelli, Papiris, Greenhalf, Izbicki, Kiudelis, Mohelníková-Duchoňová, Bueno-de-Mesquita, Vodicka, Brenner, Diener, Pezzilli, Ivanauskas, Salvia, Szentesi, Aoki, Németh, Sperti, Jamroziak, Chammas, Oliverius, Archibugi, Ermini, Novák, Kupcinskas, Strouhal, Souček, Cavestro, Milanetto, Vanella, Neoptolemos, Theodoropoulos, van Laarhoven, Mambrini, Moz, Kala, Loveček, Basso, Uzunoglu, Hackert, Testoni, Hlaváč, Andriulli, Lucchesi, Tavano, Carrara, Hegyi, Arcidiacono, Busch, Lawlor, Puzzono, Boggi, Guo, Małecka-Panas, Capurso, Landi, Talar-Wojnarowska, Strobel, Gao, Vashist, Campa and Canzian.

PY - 2021

Y1 - 2021

N2 - Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry. Six single nucleotide polymorphisms (SNPs) showed associations with pancreatic cancer risk according to a recessive model of inheritance. We replicated these variants in 3,212 cases and 3,470 controls collected from the PANcreatic Disease ReseArch (PANDoRA) consortium. The results of the meta-analyses confirmed that rs4626538 (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31) showed specific recessive effects (p<10-5) compared with the additive effects (p>10-3), although none of the six SNPs reached the conventional threshold for genome-wide significance (p < 5×10-8). Additional bioinformatic analysis explored the functional annotations of the SNPs and indicated a possible relationship between rs36018702 and expression of the BCL2L11 and BUB1 genes, which are known to be involved in pancreatic biology. Our findings, while not conclusive, indicate the importance of considering non-additive genetic models when performing GWAS analysis. The SNPs associated with pancreatic cancer in this study could be used for further meta-analysis for recessive association of SNPs and pancreatic cancer risk and might be a useful addiction to improve the performance of polygenic risk scores.

AB - Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry. Six single nucleotide polymorphisms (SNPs) showed associations with pancreatic cancer risk according to a recessive model of inheritance. We replicated these variants in 3,212 cases and 3,470 controls collected from the PANcreatic Disease ReseArch (PANDoRA) consortium. The results of the meta-analyses confirmed that rs4626538 (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31) showed specific recessive effects (p<10-5) compared with the additive effects (p>10-3), although none of the six SNPs reached the conventional threshold for genome-wide significance (p < 5×10-8). Additional bioinformatic analysis explored the functional annotations of the SNPs and indicated a possible relationship between rs36018702 and expression of the BCL2L11 and BUB1 genes, which are known to be involved in pancreatic biology. Our findings, while not conclusive, indicate the importance of considering non-additive genetic models when performing GWAS analysis. The SNPs associated with pancreatic cancer in this study could be used for further meta-analysis for recessive association of SNPs and pancreatic cancer risk and might be a useful addiction to improve the performance of polygenic risk scores.

U2 - 10.3389/fonc.2021.771312

DO - 10.3389/fonc.2021.771312

M3 - SCORING: Journal article

C2 - 34926279

VL - 11

JO - FRONT ONCOL

JF - FRONT ONCOL

SN - 2234-943X

M1 - 771312

ER -