First genotype-phenotype study reveals HLA-DQβ1 insertion heterogeneity in high-resolution manometry achalasia subtypes.
Achalasia
HLA-DQβ1
genetic risk variant
high-resolution manometry
Journal
United European gastroenterology journal
ISSN: 2050-6406
Titre abrégé: United European Gastroenterol J
Pays: England
ID NLM: 101606807
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
25
06
2018
accepted:
03
09
2018
entrez:
22
2
2019
pubmed:
23
2
2019
medline:
23
2
2019
Statut:
ppublish
Résumé
Achalasia is a primary oesophageal motility disorder. Although aetiology remains mainly unknown, a genetic risk variant, rs28688207 in HLA-DQB1, showed strong achalasia association suggesting involvement of immune-mediated processes in the pathogenesis. High-resolution manometry recognises three types of achalasia. The aim of our study was to perform the first genotype-phenotype analysis investigating the frequency of rs28688207 across the high-resolution manometry subtypes. This was a cross-sectional retrospective study. Achalasia patients from tertiary centres in the Czech Republic ( A total of 347 achalasia patients (type I - 89, II - 210, III - 48) were included. The overall frequency of the rs28688207 was 10.3%. The distribution of the insertion was significantly different across the high-resolution manometry subtypes ( The frequency of the HLA-DQB1 insertion differs among high-resolution manometry achalasia subtypes. The insertion is most prevalent in type I, suggesting that immune-mediated mechanisms triggered by the insertion may play a more prominent role in the pathogenesis of this subtype.
Sections du résumé
Background
Achalasia is a primary oesophageal motility disorder. Although aetiology remains mainly unknown, a genetic risk variant, rs28688207 in HLA-DQB1, showed strong achalasia association suggesting involvement of immune-mediated processes in the pathogenesis. High-resolution manometry recognises three types of achalasia. The aim of our study was to perform the first genotype-phenotype analysis investigating the frequency of rs28688207 across the high-resolution manometry subtypes.
Methods
This was a cross-sectional retrospective study. Achalasia patients from tertiary centres in the Czech Republic (
Results
A total of 347 achalasia patients (type I - 89, II - 210, III - 48) were included. The overall frequency of the rs28688207 was 10.3%. The distribution of the insertion was significantly different across the high-resolution manometry subtypes (
Conclusion
The frequency of the HLA-DQB1 insertion differs among high-resolution manometry achalasia subtypes. The insertion is most prevalent in type I, suggesting that immune-mediated mechanisms triggered by the insertion may play a more prominent role in the pathogenesis of this subtype.
Identifiants
pubmed: 30788115
doi: 10.1177/2050640618804717
pii: 10.1177_2050640618804717
pmc: PMC6374847
doi:
Substances chimiques
HLA-DQ beta-Chains
0
HLA-DQB1 antigen
0
Types de publication
Journal Article
Multicenter Study
Langues
eng
Pagination
45-51Références
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