RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293043" target="_blank" >RIV/00064203:_____/14:10293043 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10293043 RIV/00023761:_____/14:#0000480 RIV/00064203:_____/14:10296215

Výsledek na webu

<a href="http://dx.doi.org/10.1371/journal.pone.0098957" target="_blank" >http://dx.doi.org/10.1371/journal.pone.0098957</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0098957" target="_blank" >10.1371/journal.pone.0098957</a>

Jazyk výsledku

angličtina

Název v původním jazyce

RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

Popis výsledku v původním jazyce

Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses in variable length of the intestine. This study investigated the influence and a possible modifying function of RET proto-oncogene's single nucleotide polymorphisms (SNPs) and haplotypes in the development and phenotype of the disease in Czech patients. Genotyping of 14 SNPs was performed using TaqMan Genotyping Assays and direct sequencing. The frequencies of SNPs and generated haplotypes were statistically evaluated using chi-square test and the association with the risk of HSCR was estimated by odds ratio. SNP analysis revealed significant differences in frequencies of 11 polymorphic RET variants between 162 HSCR patients and 205 unaffected controls. Particularly variant alleles of rs1864410, rs2435357, rs2506004 (intron 1), rs1800858 (exon 2), rs1800861 (exon 13), and rs2565200 (intron 19) were strongly associated with increased risk of HSCR (p<0.00000) and were over-represented in males

Název v anglickém jazyce

RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

Popis výsledku anglicky

Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses in variable length of the intestine. This study investigated the influence and a possible modifying function of RET proto-oncogene's single nucleotide polymorphisms (SNPs) and haplotypes in the development and phenotype of the disease in Czech patients. Genotyping of 14 SNPs was performed using TaqMan Genotyping Assays and direct sequencing. The frequencies of SNPs and generated haplotypes were statistically evaluated using chi-square test and the association with the risk of HSCR was estimated by odds ratio. SNP analysis revealed significant differences in frequencies of 11 polymorphic RET variants between 162 HSCR patients and 205 unaffected controls. Particularly variant alleles of rs1864410, rs2435357, rs2506004 (intron 1), rs1800858 (exon 2), rs1800861 (exon 13), and rs2565200 (intron 19) were strongly associated with increased risk of HSCR (p<0.00000) and were over-represented in males

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FJ - Chirurgie včetně transplantologie

OECD FORD obor

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Projekt

<a href="/cs/project/NT13901" target="_blank" >NT13901: Studium genetických změn u nádorů štítné žlázy</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2014

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

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Svazek periodika

9

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

9

Strana od-do

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Kód UT WoS článku

000338430700102

EID výsledku v databázi Scopus

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