The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans

Eur J Hum Genet. 2016 Aug;24(8):1228-31. doi: 10.1038/ejhg.2015.262. Epub 2016 Jan 6.

Abstract

Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQβ1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQβ1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central Europe, Italy, Spain, Poland and Sweden - the insertion is achalasia associated with Pcombined=1.67 × 10(-35). In addition, we observe that the frequency of the insertion shows a geospatial north-south gradient. The insertion is less common in northern (around 6-7% in patients and 2% in controls from Sweden and Poland) compared with southern Europeans (~16% in patients and 8% in controls from Italy) and shows a stronger attributable risk in the southern European population. Our study provides evidence that the prevalence of achalasia may differ between populations.

MeSH terms

  • Esophageal Achalasia / epidemiology
  • Esophageal Achalasia / ethnology
  • Esophageal Achalasia / genetics*
  • Europe
  • Female
  • HLA-DQ beta-Chains / genetics*
  • Humans
  • Male
  • Mutagenesis, Insertional*
  • Mutation Rate
  • Polymorphism, Genetic
  • Prevalence
  • White People / genetics

Substances

  • HLA-DQ beta-Chains
  • HLA-DQB1 antigen