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Single nucleotide polymorphisms within MUC4 are associated with colorectal cancer survival
S. Lu, C. Catalano, S. Huhn, B. Pardini, L. Partu, V. Vymetalkova, L. Vodickova, M. Levy, T. Buchler, K. Hemminki, P. Vodicka, A. Försti,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
NV15-27580A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
Directory of Open Access Journals
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- MeSH
- doba přežití bez progrese choroby MeSH
- dospělí MeSH
- genotyp MeSH
- glykosylace MeSH
- jednonukleotidový polymorfismus genetika MeSH
- Kaplanův-Meierův odhad MeSH
- kolorektální nádory genetika mortalita patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mucin 4 genetika metabolismus MeSH
- muciny genetika metabolismus MeSH
- nádorové biomarkery genetika MeSH
- nádory tračníku genetika mortalita patologie MeSH
- přežití po terapii bez příznaků nemoci MeSH
- rizikové faktory MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- vazebná nerovnováha MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
Mucins and their glycosylation have been suggested to play an important role in colorectal carcinogenesis. We examined potentially functional genetic variants in the mucin genes or genes involved in their glycosylation with respect to colorectal cancer (CRC) risk and clinical outcome. We genotyped 23 single nucleotide polymorphisms (SNPs) covering 123 SNPs through pairwise linkage disequilibrium (r2>0.80) in the MUC1, MUC2, MUC4, MUC5AC, MUC6, and B3GNT6 genes in a hospital-based case-control study of 1532 CRC cases and 1108 healthy controls from the Czech Republic. We also analyzed these SNPs in relation to overall survival and event-free survival in a subgroup of 672 patients. Among patients without distant metastasis at the time of diagnosis, two MUC4 SNPs, rs3107764 and rs842225, showed association with overall survival (HR 1.40, 95%CI 1.08-1.82, additive model, log-rank p = 0.004 and HR 0.64, 95%CI 0.42-0.99, recessive model, log-rank p = 0.01, respectively) and event-free survival (HR 1.31, 95%CI 1.03-1.68, log-rank p = 0.004 and HR 0.64, 95%CI 0.42-0.96, log-rank p = 0.006, respectively) after adjustment for age, sex and TNM stage. Our data suggest that genetic variation especially in the transmembrane mucin gene MUC4 may play a role in the survival of CRC and further studies are warranted.
Department of Oncology Thomayer Hospital Prague Czech Republic
Division of Molecular Genetic Epidemiology German Cancer Research Center Heidelberg Germany
Citace poskytuje Crossref.org
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- $a Lu, Shun $u Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany. Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
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- $a Mucins and their glycosylation have been suggested to play an important role in colorectal carcinogenesis. We examined potentially functional genetic variants in the mucin genes or genes involved in their glycosylation with respect to colorectal cancer (CRC) risk and clinical outcome. We genotyped 23 single nucleotide polymorphisms (SNPs) covering 123 SNPs through pairwise linkage disequilibrium (r2>0.80) in the MUC1, MUC2, MUC4, MUC5AC, MUC6, and B3GNT6 genes in a hospital-based case-control study of 1532 CRC cases and 1108 healthy controls from the Czech Republic. We also analyzed these SNPs in relation to overall survival and event-free survival in a subgroup of 672 patients. Among patients without distant metastasis at the time of diagnosis, two MUC4 SNPs, rs3107764 and rs842225, showed association with overall survival (HR 1.40, 95%CI 1.08-1.82, additive model, log-rank p = 0.004 and HR 0.64, 95%CI 0.42-0.99, recessive model, log-rank p = 0.01, respectively) and event-free survival (HR 1.31, 95%CI 1.03-1.68, log-rank p = 0.004 and HR 0.64, 95%CI 0.42-0.96, log-rank p = 0.006, respectively) after adjustment for age, sex and TNM stage. Our data suggest that genetic variation especially in the transmembrane mucin gene MUC4 may play a role in the survival of CRC and further studies are warranted.
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- $a Catalano, Calogerina $u Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
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- $a Pardini, Barbara $u Italian Institute for Genomic Medicine (IIGM), Turin, Italy.
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- $a Vodickova, Ludmila $u Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Prague, Czech Republic. Institute of Biology and Medical Genetics, 1stMedical Faculty, Charles University, Prague, Czech Republic. Biomedical Centre, Faculty of Medicine in Pilsen, Charles University in Prague, Pilsen, Czech Republic.
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