Single nucleotide polymorphisms within MUC4 are associated with colorectal cancer survival

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F19%3A00508391" target="_blank" >RIV/68378041:_____/19:00508391 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/19:10394083 RIV/00216208:11120/19:43918242 RIV/00216208:11140/19:10394083 RIV/00064190:_____/19:N0000057

Výsledek na webu

<a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0216666" target="_blank" >https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0216666</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0216666" target="_blank" >10.1371/journal.pone.0216666</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Single nucleotide polymorphisms within MUC4 are associated with colorectal cancer survival

Popis výsledku v původním jazyce

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 (r(2)>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, logrank 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.

Název v anglickém jazyce

Single nucleotide polymorphisms within MUC4 are associated with colorectal cancer survival

Popis výsledku anglicky

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 (r(2)>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, logrank 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

PLoS ONE

ISSN

1932-6203

e-ISSN

—

Svazek periodika

14

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

13

Strana od-do

e0216666

Kód UT WoS článku

000467949100033

EID výsledku v databázi Scopus

2-s2.0-85065918218