FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2066547896> ?p ?o ?g. }

• W2066547896 endingPage "e110292" @default.
• W2066547896 startingPage "e110292" @default.
• W2066547896 abstract "Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder characterized by the absence of intramural nervous plexuses along variable lengths of the hindgut. Although RET is a well-established risk factor, a recent genome-wide association study (GWAS) of HSCR has identified NRG1 as an additional susceptibility locus. To discover additional risk loci, we performed a GWAS of 123 sporadic HSCR patients and 432 unaffected controls using a large-scale platform with coverage of over 1 million polymorphic markers. The result was that our study replicated the findings of RET-CSGALNACT2-RASGEF1A genomic region (rawP = 5.69×10−19 before a Bonferroni correction; corrP = 4.31×10−13 after a Bonferroni correction) and NRG1 as susceptibility loci. In addition, this study identified SLC6A20 (adjP = 2.71×10−6), RORA (adjP = 1.26×10−5), and ABCC9 (adjP = 1.86×10−5) as new potential susceptibility loci under adjusting the already known loci on the RET-CSGALNACT2-RASGEF1A and NRG1 regions, although none of the SNPs in these genes passed the Bonferroni correction. In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have different significance levels among subgroups: short-segment (S-HSCR, corrP = 1.71×10−5), long-segment (L-HSCR, corrP = 6.66×10−4), and total colonic aganglionosis (TCA, corrP>0.05). This differential pattern in the significance level suggests that other genomic loci or mechanisms may affect the length of aganglionosis in HSCR subgroups during enteric nervous system (ENS) development. Although functional evaluations are needed, our findings might facilitate improved understanding of the mechanisms of HSCR pathogenesis." @default.
• W2066547896 created "2016-06-24" @default.
• W2066547896 creator A5021285252 @default.
• W2066547896 creator A5026769077 @default.
• W2066547896 creator A5036289862 @default.
• W2066547896 creator A5050921932 @default.
• W2066547896 creator A5053623135 @default.
• W2066547896 creator A5054089187 @default.
• W2066547896 creator A5059294099 @default.
• W2066547896 creator A5061712858 @default.
• W2066547896 creator A5065656767 @default.
• W2066547896 creator A5066776350 @default.
• W2066547896 creator A5068805724 @default.
• W2066547896 creator A5070408026 @default.
• W2066547896 creator A5083523071 @default.
• W2066547896 date "2014-10-13" @default.
• W2066547896 modified "2023-10-02" @default.
• W2066547896 title "A Genome-Wide Association Study Identifies Potential Susceptibility Loci for Hirschsprung Disease" @default.
• W2066547896 cites W1556495391 @default.
• W2066547896 cites W1970824185 @default.
• W2066547896 cites W1983728908 @default.
• W2066547896 cites W1988899020 @default.
• W2066547896 cites W1994232758 @default.
• W2066547896 cites W2002265192 @default.
• W2066547896 cites W2017337919 @default.
• W2066547896 cites W2020066516 @default.
• W2066547896 cites W2020400086 @default.
• W2066547896 cites W2026207762 @default.
• W2066547896 cites W2032712747 @default.
• W2066547896 cites W2055210467 @default.
• W2066547896 cites W2058541788 @default.
• W2066547896 cites W2063905144 @default.
• W2066547896 cites W2064132040 @default.
• W2066547896 cites W2064388431 @default.
• W2066547896 cites W2079927753 @default.
• W2066547896 cites W2082720266 @default.
• W2066547896 cites W2087451964 @default.
• W2066547896 cites W2090762501 @default.
• W2066547896 cites W2110554841 @default.
• W2066547896 cites W2130583261 @default.
• W2066547896 cites W2134254169 @default.
• W2066547896 cites W2138328384 @default.
• W2066547896 cites W2139546735 @default.
• W2066547896 cites W2152496463 @default.
• W2066547896 cites W2154475724 @default.
• W2066547896 cites W2157325549 @default.
• W2066547896 cites W2171465775 @default.
• W2066547896 doi "https://doi.org/10.1371/journal.pone.0110292" @default.
• W2066547896 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4195606" @default.
• W2066547896 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25310821" @default.
• W2066547896 hasPublicationYear "2014" @default.
• W2066547896 type Work @default.
• W2066547896 sameAs 2066547896 @default.
• W2066547896 citedByCount "36" @default.
• W2066547896 countsByYear W20665478962015 @default.
• W2066547896 countsByYear W20665478962016 @default.
• W2066547896 countsByYear W20665478962017 @default.
• W2066547896 countsByYear W20665478962018 @default.
• W2066547896 countsByYear W20665478962019 @default.
• W2066547896 countsByYear W20665478962020 @default.
• W2066547896 countsByYear W20665478962021 @default.
• W2066547896 countsByYear W20665478962022 @default.
• W2066547896 countsByYear W20665478962023 @default.
• W2066547896 crossrefType "journal-article" @default.
• W2066547896 hasAuthorship W2066547896A5021285252 @default.
• W2066547896 hasAuthorship W2066547896A5026769077 @default.
• W2066547896 hasAuthorship W2066547896A5036289862 @default.
• W2066547896 hasAuthorship W2066547896A5050921932 @default.
• W2066547896 hasAuthorship W2066547896A5053623135 @default.
• W2066547896 hasAuthorship W2066547896A5054089187 @default.
• W2066547896 hasAuthorship W2066547896A5059294099 @default.
• W2066547896 hasAuthorship W2066547896A5061712858 @default.
• W2066547896 hasAuthorship W2066547896A5065656767 @default.
• W2066547896 hasAuthorship W2066547896A5066776350 @default.
• W2066547896 hasAuthorship W2066547896A5068805724 @default.
• W2066547896 hasAuthorship W2066547896A5070408026 @default.
• W2066547896 hasAuthorship W2066547896A5083523071 @default.
• W2066547896 hasBestOaLocation W20665478961 @default.
• W2066547896 hasConcept C104317684 @default.
• W2066547896 hasConcept C105795698 @default.
• W2066547896 hasConcept C106208931 @default.
• W2066547896 hasConcept C127808970 @default.
• W2066547896 hasConcept C135763542 @default.
• W2066547896 hasConcept C153209595 @default.
• W2066547896 hasConcept C169760540 @default.
• W2066547896 hasConcept C186413461 @default.
• W2066547896 hasConcept C2777439022 @default.
• W2066547896 hasConcept C33923547 @default.
• W2066547896 hasConcept C54355233 @default.
• W2066547896 hasConcept C84597430 @default.
• W2066547896 hasConcept C86803240 @default.
• W2066547896 hasConceptScore W2066547896C104317684 @default.
• W2066547896 hasConceptScore W2066547896C105795698 @default.
• W2066547896 hasConceptScore W2066547896C106208931 @default.
• W2066547896 hasConceptScore W2066547896C127808970 @default.
• W2066547896 hasConceptScore W2066547896C135763542 @default.
• W2066547896 hasConceptScore W2066547896C153209595 @default.
• W2066547896 hasConceptScore W2066547896C169760540 @default.

• next