Single nucleotide polymorphisms within interferon signaling pathway genes are associated with colorectal cancer susceptibility and survival

. 2014 ; 9 (10) : e111061. [epub] 20141028

Jazyk angličtina Země Spojené státy americké Médium electronic-ecollection

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/pmid25350395

Interferon (IFN) signaling has been suggested to play an important role in colorectal carcinogenesis. Our study aimed to examine potentially functional genetic variants in interferon regulatory factor 3 (IRF3), IRF5, IRF7, type I and type II IFN and their receptor genes with respect to colorectal cancer (CRC) risk and clinical outcome. Altogether 74 single nucleotide polymorphisms (SNPs) were covered by the 34 SNPs genotyped in a hospital-based case-control study of 1327 CRC cases and 758 healthy controls from the Czech Republic. We also analyzed these SNPs in relation to overall survival and event-free survival in a subgroup of 483 patients. Seven SNPs in IFNA1, IFNA13, IFNA21, IFNK, IFNAR1 and IFNGR1 were associated with CRC risk. After multiple testing correction, the associations with the SNPs rs2856968 (IFNAR1) and rs2234711 (IFNGR1) remained formally significant (P = 0.0015 and P<0.0001, respectively). Multivariable survival analyses showed that the SNP rs6475526 (IFNA7/IFNA14) was associated with overall survival of the patients (P = 0.041 and event-free survival among patients without distant metastasis at the time of diagnosis, P = 0.034). The hazard ratios (HRs) for rs6475526 remained statistically significant even after adjustment for age, gender, grade and stage (P = 0.029 and P = 0.036, respectively), suggesting that rs6475526 is an independent prognostic marker for CRC. Our data suggest that genetic variation in the IFN signaling pathway genes may play a role in the etiology and survival of CRC and further studies are warranted.

Zobrazit více v PubMed

Huxley RR, Ansary-Moghaddam A, Clifton P, Czernichow S, Parr CL, et al. (2009) The impact of dietary and lifestyle risk factors on risk of colorectal cancer: a quantitative overview of the epidemiological evidence. Int J Cancer 125: 171–180. PubMed

de la Chapelle A (2004) Genetic predisposition to colorectal cancer. Nat Rev Cancer 4: 769–780. PubMed

Hemminki K, Forsti A, Lorenzo Bermejo J (2009) Surveying the genomic landscape of colorectal cancer. Am J Gastroenterol 104: 789–790. PubMed

Whiffin N, Hosking FJ, Farrington SM, Palles C, Dobbins SE, et al. (2014) Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. Hum Mol Genet 23: 4729–4737. PubMed PMC

Peters U, Jiao S, Schumacher FR, Hutter CM, Aragaki AK, et al.. (2013) Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology 144: : 799-807 e724. PubMed PMC

Peters U, Hutter CM, Hsu L, Schumacher FR, Conti DV, et al. (2012) Meta-analysis of new genome-wide association studies of colorectal cancer risk. Hum Genet 131: 217–234. PubMed PMC

Garrity-Park MM, Loftus EV Jr, Bryant SC, Sandborn WJ, Smyrk TC (2008) Tumor necrosis factor-alpha polymorphisms in ulcerative colitis-associated colorectal cancer. Am J Gastroenterol 103: 407–415. PubMed

Castro FA, Forsti A, Buch S, Kalthoff H, Krauss C, et al. (2011) TLR-3 polymorphism is an independent prognostic marker for stage II colorectal cancer. Eur J Cancer 47: 1203–1210. PubMed

Wilkening S, Tavelin B, Canzian F, Enquist K, Palmqvist R, et al. (2008) Interleukin promoter polymorphisms and prognosis in colorectal cancer. Carcinogenesis 29: 1202–1206. PubMed

Lu S, Bevier M, Huhn S, Sainz J, Lascorz J, et al. (2013) Genetic variants in C-type lectin genes are associated with colorectal cancer susceptibility and clinical outcome. Int J Cancer 133: 2325–2333. PubMed

Platanias LC (2005) Mechanisms of type-I- and type-II-interferon-mediated signalling. Nat Rev Immunol 5: 375–386. PubMed

Savitsky D, Tamura T, Yanai H, Taniguchi T (2010) Regulation of immunity and oncogenesis by the IRF transcription factor family. Cancer Immunol Immunother 59: 489–510. PubMed PMC

Takaoka A, Hayakawa S, Yanai H, Stoiber D, Negishi H, et al. (2003) Integration of interferon-alpha/beta signalling to p53 responses in tumour suppression and antiviral defence. Nature 424: 516–523. PubMed

Zufferey C, Erhart D, Saurer L, Mueller C (2009) Production of interferon-gamma by activated T-cell receptor-alphabeta CD8alphabeta intestinal intraepithelial lymphocytes is required and sufficient for disruption of the intestinal barrier integrity. Immunology 128: 351–359. PubMed PMC

Wang F, Schwarz BT, Graham WV, Wang Y, Su L, et al. (2006) IFN-gamma-induced TNFR2 expression is required for TNF-dependent intestinal epithelial barrier dysfunction. Gastroenterology 131: 1153–1163. PubMed PMC

Slattery ML, Lundgreen A, Bondurant KL, Wolff RK (2011) Interferon-signaling pathway: associations with colon and rectal cancer risk and subsequent survival. Carcinogenesis 32: 1660–1667. PubMed PMC

Pechlivanis S, Bermejo JL, Pardini B, Naccarati A, Vodickova L, et al. (2009) Genetic variation in adipokine genes and risk of colorectal cancer. Eur J Endocrinol 160: 933–940. PubMed

Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116: 1453–1456. PubMed

Pardini B, Kumar R, Naccarati A, Prasad RB, Forsti A, et al. (2011) MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic. Mutat Res 721: 74–80. PubMed

Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, et al. (2007) An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet 16: 3008–3016. PubMed

Burghel GJ, Lin WY, Whitehouse H, Brock I, Hammond D, et al. (2013) Identification of candidate driver genes in common focal chromosomal aberrations of microsatellite stable colorectal cancer. PLoS One 8: e83859. PubMed PMC

Nelis M, Esko T, Magi R, Zimprich F, Zimprich A, et al. (2009) Genetic structure of Europeans: a view from the North-East. PLoS One 4: e5472. PubMed PMC

Agesen TH, Berg M, Clancy T, Thiis-Evensen E, Cekaite L, et al. (2011) CLC and IFNAR1 are differentially expressed and a global immunity score is distinct between early- and late-onset colorectal cancer. Genes Immun 12: 653–662. PubMed

Nyholt DR (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 74: 765–769. PubMed PMC

Krausgruber T, Blazek K, Smallie T, Alzabin S, Lockstone H, et al. (2011) IRF5 promotes inflammatory macrophage polarization and TH1-TH17 responses. Nat Immunol 12: 231–238. PubMed

Esteban-Jurado C, Garre P, Vila M, Lozano JJ, Pristoupilova A, et al. (2014) New genes emerging for colorectal cancer predisposition. World J Gastroenterol 20: 1961–1971. PubMed PMC

Yang JL, Qu XJ, Russell PJ, Goldstein D (2005) Interferon-alpha promotes the anti-proliferative effect of gefitinib (ZD 1839) on human colon cancer cell lines. Oncology 69: 224–238. PubMed

Yang JL, Qu XJ, Russell PJ, Goldstein D (2005) Interferon-alpha promotes the anti-proliferative effect of Erlotinib (OSI-774) on human colon cancer cell lines. Cancer Lett 225: 61–74. PubMed

Wong KK, Tsang YT, Shen J, Cheng RS, Chang YM, et al. (2004) Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA. Nucleic Acids Res 32: e69. PubMed PMC

Paez JG, Lin M, Beroukhim R, Lee JC, Zhao X, et al. (2004) Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Res 32: e71. PubMed PMC

Li J, Ji L (2005) Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity (Edinb) 95: 221–227. PubMed

Leyva L, Fernandez O, Fedetz M, Blanco E, Fernandez VE, et al. (2005) IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response. J Neuroimmunol 163: 165–171. PubMed

Zhou C, Yu Q, Chen L, Wang J, Zheng S, et al. (2012) A miR-1231 binding site polymorphism in the 3'UTR of IFNAR1 is associated with hepatocellular carcinoma susceptibility. Gene 507: 95–98. PubMed

Valle L, Hernandez-Illan E, Bellido F, Aiza G, Castillejo A, et al... (2014) New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet. PubMed

Chen C, Guo L, Shi M, Hu M, Yu M, et al. (2012) Modulation of IFN-gamma receptor 1 expression by AP-2alpha influences IFN-gamma sensitivity of cancer cells. Am J Pathol 180: 661–671. PubMed

Wang Y, Liu D, Chen P, Koeffler HP, Tong X, et al. (2008) Negative feedback regulation of IFN-gamma pathway by IFN regulatory factor 2 in esophageal cancers. Cancer Res 68: 1136–1143. PubMed

Duncan TJ, Rolland P, Deen S, Scott IV, Liu DT, et al. (2007) Loss of IFN gamma receptor is an independent prognostic factor in ovarian cancer. Clin Cancer Res 13: 4139–4145. PubMed

Canedo P, Corso G, Pereira F, Lunet N, Suriano G, et al. (2008) The interferon gamma receptor 1 (IFNGR1) -56C/T gene polymorphism is associated with increased risk of early gastric carcinoma. Gut 57: 1504–1508. PubMed

Zhou J, Chen DQ, Poon VK, Zeng Y, Ng F, et al. (2009) A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection. Immunogenetics 61: 423–430. PubMed

Koch O, Awomoyi A, Usen S, Jallow M, Richardson A, et al. (2002) IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. J Infect Dis 185: 1684–1687. PubMed

Juliger S, Bongartz M, Luty AJ, Kremsner PG, Kun JF (2003) Functional analysis of a promoter variant of the gene encoding the interferon-gamma receptor chain I. Immunogenetics 54: 675–680. PubMed

Rosenzweig SD, Schaffer AA, Ding L, Sullivan R, Enyedi B, et al. (2004) Interferon-gamma receptor 1 promoter polymorphisms: population distribution and functional implications. Clin Immunol 112: 113–119. PubMed

Donigan KA, Sun KW, Nemec AA, Murphy DL, Cong X, et al. (2012) Human POLB gene is mutated in high percentage of colorectal tumors. J Biol Chem 287: 23830–23839. PubMed PMC

Iwatsuki M, Mimori K, Yokobori T, Tanaka F, Tahara K, et al. (2009) A platinum agent resistance gene, POLB, is a prognostic indicator in colorectal cancer. J Surg Oncol 100: 261–266. PubMed

Hiroishi K, Tuting T, Lotze MT (2000) IFN-alpha-expressing tumor cells enhance generation and promote survival of tumor-specific CTLs. J Immunol 164: 567–572. PubMed

Najít záznam

Citační ukazatele

Možnosti archivace