RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00216208:11130/14:10293043 RIV/00023761:_____/14:#0000480 RIV/00064203:_____/14:10296215
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
Original language description
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
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FJ - Surgery including transplantology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT13901" target="_blank" >NT13901: Study of the Genetic Alterations in Thyroid Cancer</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
PLoS ONE
ISSN
1932-6203
e-ISSN
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Volume of the periodical
9
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
9
Pages from-to
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UT code for WoS article
000338430700102
EID of the result in the Scopus database
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