First genotype-phenotype study reveals HLA-DQß1 insertion heterogeneity in high-resolution manometry achalasia subtypes.
United European Gastroenterol J
; 7(1): 45-51, 2019 02.
Article
em En
| MEDLINE
| ID: mdl-30788115
ABSTRACT
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 (n = 163), Germany (n = 114), Greece (n = 70) and controls were enrolled. All subjects were genotyped for the rs28688207 insertion. The Kruskal-Wallis test was used for the genotype-phenotype analysis.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 (p = 0.038), being most prevalent in type I (14.6%), followed by type II (9.5%) and III (6.3%).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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Acalasia Esofágica
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Heterogeneidade Genética
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Cadeias beta de HLA-DQ
/
Genótipo
/
Manometria
Tipo de estudo:
Clinical_trials
/
Observational_studies
/
Prevalence_studies
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Risk_factors_studies
/
Screening_studies
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
United European Gastroenterol J
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
República Tcheca