First genotype-phenotype study reveals HLA-DQβ1 insertion heterogeneity in high-resolution manometry achalasia subtypes

United European Gastroenterology Journal
Zuzana VackovaJan Martinek

Abstract

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 (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. 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%). The frequency of the HLA-DQB1 insertion differs among high-resolution manometry achalasia subtypes. The insertion is...Continue Reading

References

Jan 1, 1992·Immunogenetics·S SenjuT Sasazuki
Aug 10, 2000·The American Journal of Surgical Pathology·S B ClarkJ R Goldblum
Apr 20, 2005·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·G E Boeckxstaens
May 9, 2006·Journal of Gastroenterology and Hepatology·Ines GockelTheodor Junginger
Jun 19, 2007·Nature Genetics·Jonathan MarchiniPeter Donnelly
Oct 24, 2007·The Journal of Surgical Research·Arman KilicMatthew J Schuchert
Aug 30, 2008·Gastroenterology·John E PandolfinoPeter J Kahrilas
May 6, 2009·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·J E PandolfinoP J Kahrilas
Dec 9, 2009·Autoimmunity Reviews·Andrea T BorchersM E Gershwin
Aug 12, 2010·Human Genetics·Henning R GockelMarkus M Nöthen
Feb 22, 2012·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·A J BredenoordUNKNOWN International High Resolution Manometry Working Group
Aug 27, 2013·Gastroenterology·Peter J Kahrilas, Guy Boeckxstaens
Jul 7, 2014·Nature Genetics·Ines GockelJohannes Schumacher
Dec 4, 2014·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·P J KahrilasUNKNOWN International High Resolution Manometry Working Group
Oct 4, 2015·Nature·UNKNOWN 1000 Genomes Project ConsortiumGonçalo R Abecasis
Nov 7, 2015·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·J B SodikoffJ E Pandolfino
Jan 7, 2016·European Journal of Human Genetics : EJHG·Jessica BeckerJohannes Schumacher
Feb 18, 2016·European Journal of Gastroenterology & Hepatology·Jessica BeckerJohannes Schumacher

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Citations

Feb 15, 2021·Journal of Digestive Diseases·Xing Yue WuPing Hong Zhou

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Methods Mentioned

BETA
Genotyping
Assay

Software Mentioned

ManoView

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