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https://hdl.handle.net/2440/57251
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dc.contributor.author | Asling, B. | - |
dc.contributor.author | Jirholt, J. | - |
dc.contributor.author | Hammond, P. | - |
dc.contributor.author | Knutsson, M. | - |
dc.contributor.author | Walentinsson, A. | - |
dc.contributor.author | Davidson, G. | - |
dc.contributor.author | Agreus, L. | - |
dc.contributor.author | Lehmann, A. | - |
dc.contributor.author | Lagerstrom-Fermer, M. | - |
dc.date.issued | 2009 | - |
dc.identifier.citation | Gut, 2009; 58(8):1063-1069 | - |
dc.identifier.issn | 0017-5749 | - |
dc.identifier.issn | 1468-3288 | - |
dc.identifier.uri | http://hdl.handle.net/2440/57251 | - |
dc.description | Published Online First 26 April 2009 | - |
dc.description.abstract | Background and objectives: Gastro-oesophageal reflux disease (GORD) is a common gastrointestinal disorder with a genetic component. Our aim was to identify genetic factors associated with GORD. Patients and methods: Four separate patient cohorts were analysed using a step-wise approach. (1) Whole genome linkage analysis was performed in 36 families. (2) Candidate genes were tested for GORD association in a trio cohort. (3) Genetic association was replicated in a case–control cohort. We also investigated genetic association to hiatus hernia (HH). (4) Protein expression was analysed in oesophageal biopsies. Results: A region on chromosome 2, containing collagen type III alpha 1 (COL3A1), was identified (LOD = 3.3) in families with dominant transmission of GORD, stratified for hiatus hernia (HH). COL3A1 showed significant association with GORD in an independent paediatric trio cohort (pcorr = 0.003). The association was male specific (pcorr = 0.018). The COL3A1 association was replicated in an independent adult case control cohort (pcorr = 0.022). Moreover, male specific association to HH (pcorr = 0.019) was found for a SNP not associated to GORD. Collagen type III protein was more abundant in oesophageal biopsies from male patients with GORD (p = 0.03). Conclusion: COL3A1 is a disease-associated gene in both paediatric and adult GORD. Furthermore, we show that COL3A1 is genetically associated with HH in adult males. The GORD- and HH-associated alleles are different, indicating two separate mechanisms leading to disease. Our data provides new insight into GORD aetiology, identifying a connective tissue component and indicating a tissue remodelling mechanism in GORD. Our results implicate gender differences in the genetic risk for both for GORD and HH. | - |
dc.description.statementofresponsibility | B Åsling, J Jirholt, P Hammond, M Knutsson, A Walentinsson, G Davidson, L Agreus, A Lehmann, M Lagerström-Fermer | - |
dc.language.iso | en | - |
dc.publisher | British Med Journal Publ Group | - |
dc.rights | Copyright © 2009 BMJ Publishing Group Ltd & British Society of Gastroenterology. | - |
dc.source.uri | http://dx.doi.org/10.1136/gut.2008.167353 | - |
dc.subject | Esophagus | - |
dc.subject | Humans | - |
dc.subject | Gastroesophageal Reflux | - |
dc.subject | Hernia, Hiatal | - |
dc.subject | Genetic Predisposition to Disease | - |
dc.subject | Collagen Type III | - |
dc.subject | Risk Factors | - |
dc.subject | Case-Control Studies | - |
dc.subject | Chromosome Mapping | - |
dc.subject | DNA Mutational Analysis | - |
dc.subject | Sex Factors | - |
dc.subject | Genotype | - |
dc.subject | Polymorphism, Single Nucleotide | - |
dc.subject | Adolescent | - |
dc.subject | Child | - |
dc.subject | Child, Preschool | - |
dc.subject | Infant | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.title | Collagen type III alpha 1 is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1136/gut.2008.167353 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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