Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

Exons Female Frameshift Mutation Gene Frequency Hirschsprung Disease / genetics Humans Male Neuregulin-1 / genetics Polymorphism, Single Nucleotide Proto-Oncogene Mas Proto-Oncogene Proteins c-ret / genetics Semaphorins / genetics
GWAS Genetics Hirschsprung disease RET

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
Apr 2019
Historique:
received: 24 02 2018
revised: 06 06 2018
accepted: 17 07 2018
pubmed: 22 7 2018
medline: 2 4 2019
entrez: 22 7 2018
Statut: ppublish

Résumé

The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most frequently affected gene in Hirschsprung disease, rare coding sequence variants explain only a small part of Hirschsprung disease cases. We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung disease cases (30 familial and 75 sporadic) and 386 controls. As expected, variants in or near RET showed the strongest overall association with Hirschsprung disease and the most statistically significant association was observed when using a recessive genetic model (rs2435357, NC_000010.10:g.43582056T > C; genotype TT, OR = 17.31, P = 1.462 × 10

Identifiants

DOI: 10.1016/j.ejmg.2018.07.019 PMID: 30031151
pubmed: 30031151
pii: S1769-7212(18)30076-4
doi: 10.1016/j.ejmg.2018.07.019
pii:
doi:

Substances chimiques

MAS1 protein, human 0
NRG1 protein, human 0
Neuregulin-1 0
Proto-Oncogene Mas 0
Semaphorins 0
Proto-Oncogene Proteins c-ret EC 2.7.10.1
RET protein, human EC 2.7.10.1

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

229-234

Informations de copyright

Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Auteurs

Valtter B Virtanen (VB)

Section of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Finland; Pediatric Liver and Gut Research Group, University of Helsinki, Finland. Electronic address: valtter.virtanen@helsinki.fi.

Perttu P Salo (PP)

National Institute for Health and Welfare, Helsinki, Finland; Institute for Molecular Medicine, Finland (FIMM), University of Helsinki, Finland; Diabetes and Obesity Research Program, University of Helsinki, Finland.

Jia Cao (J)

Department of Women´s and Children´s Health, Karolinska Institutet and Center of Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden.

Anna Löf-Granström (A)

Department of Women´s and Children´s Health, Karolinska Institutet and Center of Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden; Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.

Lili Milani (L)

The Estonian Genome Center, University of Tartu, Estonia.

Andres Metspalu (A)

The Estonian Genome Center, University of Tartu, Estonia.

Risto J Rintala (RJ)

Section of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Finland.

Outi Saarenpää-Heikkilä (O)

Department of Pediatrics, Tampere University Hospital, Tampere, Finland.

Tiina Paunio (T)

Department of Health, National Institute for Health and Welfare and Department of Psychiatry, University of Helsinki and Helsinki University Hospital, Finland.

Tomas Wester (T)

Department of Women´s and Children´s Health, Karolinska Institutet and Center of Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden; Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.

Agneta Nordenskjöld (A)

Department of Women´s and Children´s Health, Karolinska Institutet and Center of Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden; Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.

Markus Perola (M)

National Institute for Health and Welfare, Helsinki, Finland; Institute for Molecular Medicine, Finland (FIMM), University of Helsinki, Finland; Diabetes and Obesity Research Program, University of Helsinki, Finland; The Estonian Genome Center, University of Tartu, Estonia.

Mikko P Pakarinen (MP)

Section of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Finland; Pediatric Liver and Gut Research Group, University of Helsinki, Finland.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › Noncoding RET variants explain the strong...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › Noncoding RET variants explain the strong...
questionsmedicales.fr › Phénomènes génétiques › Fréquence d'allèle › Noncoding RET variants explain the strong...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil digestif › Maladie de Hirschsprung › Noncoding RET variants explain the strong...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Noncoding RET variants explain the strong...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Facteurs de croissance nerveuse › Neurégulines › Neuréguline-1 › Noncoding RET variants explain the strong...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Noncoding RET variants explain the strong...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Proto-oncogène Mas › Noncoding RET variants explain the strong...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Protéines proto-oncogènes c-ret › Noncoding RET variants explain the strong...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Sémaphorines › Noncoding RET variants explain the strong...