Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk

被引：11

作者：

Giaccherini, Matteo ^{[1
]}

Farinella, Riccardo ^{[1
]}

Gentiluomo, Manuel ^{[1
]}

Mohelnikova-Duchonova, Beatrice ^{[2
]}

Kauffmann, Emanuele Federico ^{[3
]}

Palmeri, Matteo ^{[4
]}

Uzunoglu, Faik ^{[5
]}

Soucek, Pavel ^{[6
]}

Petrauskas, Dalius ^{[7
]}

Cavestro, Giulia Martina ^{[8
]}

Zykus, Romanas ^{[7
]}

Carrara, Silvia ^{[9
]}

Pezzilli, Raffaele ^{[10
]}

Puzzono, Marta ^{[8
]}

Szentesi, Andrea ^{[11
,12
,13
]}

Neoptolemos, John ^{[14
]}

Archibugi, Livia ^{[15
,16
]}

Palmieri, Orazio ^{[17
]}

Milanetto, Anna Caterina ^{[18
]}

Capurso, Gabriele ^{[15
,16
]}

van Eijck, Casper H. J. ^{[19
]}

Stocker, Hannah ^{[20
]}

Lawlor, Rita T. ^{[21
]}

Vodicka, Pavel ^{[22
,23
,24
]}

Lovecek, Martin ^{[25
]}

Izbicki, Jakob R. ^{[5
]}

Perri, Francesco ^{[17
]}

Kupcinskaite-Noreikiene, Rita ^{[7
]}

Gotz, Mara ^{[5
]}

Kupcinskas, Juozas ^{[7
]}

Hussein, Tamas ^{[26
,27
]}

Hegyi, Peter ^{[11
,12
,26
,27
]}

Busch, Olivier R. ^{[28
]}

Hackert, Thilo ^{[14
]}

Mambrini, Andrea ^{[29
]}

Brenner, Hermann ^{[20
]}

Lucchesi, Maurizio ^{[29
]}

Basso, Daniela ^{[30
]}

Tavano, Francesca ^{[17
]}

Schottker, Ben ^{[20
]}

Vanella, Giuseppe ^{[15
,16
]}

Bunduc, Stefania ^{[26
,27
,31
]}

Petranyi, Agota ^{[27
,32
]}

Landi, Stefano ^{[1
]}

Morelli, Luca ^{[4
]}

Canzian, Federico ^{[33
]}

Campa, Daniele ^{[1
]}

机构：

[1] Univ Pisa, Dept Biol, Via Derna 1, I-56126 Pisa, PI, Italy

[2] Palacky Univ Olomouc, Fac Med & Dent, Dept Oncol, Olomouc, Czech Republic

[3] Pisa Univ Hosp, Div Gen & Transplant Surg, Pisa, Italy

[4] Univ Pisa, Dept Translat Res & New Technol Med & Surg, Gen Surg Unit, Pisa, Italy

[5] Univ Med Ctr Hamburg Eppendorf, Dept Gen Visceral & Thorac Surg, Hamburg, Germany

[6] Natl Inst Publ Hlth, Ctr Toxicol & Hlth Safety, Toxicogen Unit, Prague, Czech Republic

[7] Lithuanian Univ Hlth Sci, Dept Gastroenterol, Kaunas, Lithuania

[8] Univ Vita Salute San Raffaele, IRCCS San Raffaele Sci Inst, Gastroenterol & Gastrointestinal Endoscopy Unit, Milan, Italy

[9] IRCCS Humanitas Res Hosp, Dept Gastroenterol, Endoscop Unit, Milan, Italy

[10] Potenza Med Cty Assoc, Potenza, Italy

[11] Univ Pecs, Med Sch, Inst Translat Med, Pecs, Hungary

[12] Univ Pecs, Janos Szentagothai Res Ctr, Pecs, Hungary

[13] Univ Szeged, Ctr Translat Med, Dept Med, Szeged, Hungary

[14] Heidelberg Univ, Dept Gen Surg, Heidelberg, Germany

[15] Ist Ricovero & Cura Carattere Sci IRCCS, San Raffaele Sci Inst, Pancreatobiliary Endoscopy & Endosonog Div, Pancreas Translat & Clin Res Ctr, Milan, Italy

[16] St Andrea Hosp, Digest & Liver Dis Unit, Rome, Italy

[17] Fdn IRCCS Casa Sollievo Sofferenza Hosp, Div Gastroenterol & Res Lab, Foggia, Italy

[18] Univ Padua, Dept Surg Oncol & Gastroenterol, Padua, Italy

[19] Erasmus MC Univ, Dept Surg, Med Ctr, Rotterdam, Netherlands

[20] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany

[21] Univ & Hosp Trust Verona, ARC NET Ctr Appl Res Canc, Verona, Italy

[22] Czech Acad Sci, Dept Mol Biol Canc, Inst Expt Med, Prague, Czech Republic

[23] Charles Univ Prague, Fac Med Pilsen, Biomed Ctr, Plzen, Czech Republic

[24] Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

[25] Univ Hosp Olomouc, Dept Surg 1, Olomouc, Czech Republic

[26] Semmelweis Univ, Ctr Translat Med, Budapest, Hungary

[27] Semmelweis Univ, Heart & Vasc Ctr, Div Pancreat Dis, Budapest, Hungary

[28] Univ Amsterdam, Canc Ctr Amsterdam, Dept Surg, Amsterdam UMC, Amsterdam, Netherlands

[29] Azienda USL Toscana Nord Ovest, Oncol Dept Massa Carrara, Carrara, Italy

[30] Univ Padua, Dept Med, Padua, Italy

[31] Carol Davila Univ Med & Pharm, Bucharest, Romania

[32] Semmelweis Univ, Dept Internal Med & Oncol, Budapest, Hungary

[33] German Canc Res Ctr, Genom Epidemiol Grp, Heidelberg, Germany

来源：

INTERNATIONAL JOURNAL OF CANCER | 2023年 / 153卷 / 02期

关键词：

association study; genetic susceptibility; pancreatic ductal adenocarcinoma; single nucleotide polymorphisms; SUSCEPTIBILITY;

D O I：

10.1002/ijc.34383

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Genes carrying high-penetrance germline mutations may also be associated with cancer susceptibility through common low-penetrance genetic variants. To increase the knowledge on genetic pancreatic ductal adenocarcinoma (PDAC) aetiology, the common genetic variability of PDAC familial genes was analysed in our study. We conducted a multiphase study analysing 7745 single nucleotide polymorphisms (SNPs) from 29 genes reported to harbour a high-penetrance PDAC-associated mutation in at least one published study. To assess the effect of the SNPs on PDAC risk, a total of 14 666 PDAC cases and 221 897 controls across five different studies were analysed. The T allele of the rs1412832 polymorphism, that is situated in the CDKN2B-AS1/ANRIL, showed a genome-wide significant association with increased risk of developing PDAC (OR = 1.11, 95% CI = 1.07-1.15, P = 5.25 x 10(-9)). CDKN2B-AS1/ANRIL is a long noncoding RNA, situated in 9p21.3, and regulates many target genes, among which CDKN2A (p16) that frequently shows deleterious somatic and germline mutations and deregulation in PDAC. Our results strongly support the role of the genetic variability of the 9p21.3 region in PDAC aetiopathogenesis and highlight the importance of secondary analysis as a tool for discovering new risk loci in complex human diseases.

引用

页码：373 / 379

页数：7

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