First genotype-phenotype study reveals HLA-DQ beta 1 insertion heterogeneity in high-resolution manometry achalasia subtypes

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F19%3A00077656" target="_blank" >RIV/00023001:_____/19:00077656 - isvavai.cz</a>

Alternative codes found

RIV/61988987:17110/19:A21026YO RIV/00216208:11110/19:10420956

Result on the web

<a href="https://journals.sagepub.com/doi/pdf/10.1177/2050640618804717" target="_blank" >https://journals.sagepub.com/doi/pdf/10.1177/2050640618804717</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1177/2050640618804717" target="_blank" >10.1177/2050640618804717</a>

Result language

angličtina

Original language name

First genotype-phenotype study reveals HLA-DQ beta 1 insertion heterogeneity in high-resolution manometry achalasia subtypes

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30219 - Gastroenterology and hepatology

Project

—

Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

United European gastroenterology journal

ISSN

2050-6406

e-ISSN

—

Volume of the periodical

7

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

7

Pages from-to

45-51

UT code for WoS article

000457497200004

EID of the result in the Scopus database

2-s2.0-85059349714