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.
- Klíčová slova
- Achalasia, HLA-DQβ1, genetic risk variant, high-resolution manometry,
- MeSH
- achalázie jícnu diagnóza epidemiologie etiologie MeSH
- alely MeSH
- fenotyp * MeSH
- genetická heterogenita * MeSH
- genotyp * MeSH
- HLA-DQ beta řetězec genetika imunologie MeSH
- jednonukleotidový polymorfismus MeSH
- lékařská geografie MeSH
- lidé MeSH
- manometrie * MeSH
- prevalence MeSH
- průřezové studie MeSH
- surveillance populace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- Geografické názvy
- Česká republika MeSH
- Německo MeSH
- Řecko MeSH
- Názvy látek
- HLA-DQ beta řetězec MeSH
- HLA-DQB1 antigen MeSH Prohlížeč
