Significant DQw1 association in achalasia

Abstract

Achalasia is a neuromuscular disorder of the esophagus with unknown etiology. There have been suggestions that this disorder is immunologically mediated. To examine this possibility, HLA phenotyping was prospectively performed on 40 patients with documented achalasia (24 Caucasian, 16 blacks). Results showed a positive association for the class II HLA antigen, DQw1, with 83% of Caucasians (P less than 0.02) and 86% of blacks having the antigen (NS). The relative risk for developing achalasia with the presence of DQw1 was 4.2 in Caucasians and 3.6 in blacks. A negative correlation for the DRw53 antigen was noted in Caucasian patients with a relative risk of 0.23. These results indicate an immunogenetic association for achalasia and provide insight into the pathogenesis of this disorder.

Achalasia: Virus-Induced Euthanasia of Neurons

“…Especially genes that are associated with MHC genes, in particular class II MHC genes, are linked to autoimmunity. Several previous reports indeed indicated a significant association of HLA-DR and -DQ alleles with achalasia (18)(19)(20)(21)(22)(23), and even showed that antineuronal antibodies were especially found in patients carrying the DQA1 * 0103 and DQB1 * 0603 alleles (14).…”

Achalasia and thyroid disease

“…The cause of the degeneration of neurons in achalasia is not known. The observations that achalasia is associated with HLADQw1 and that affected patients often have circulating antibodies to enteric neurons suggest that achalasia may be an autoimmune disorder [5][6][7] . Nonspecific degeneration of smooth muscle cells and a loss of small nerve fibers have been reported [8][9][10] .…”

Achalasia and thyroid disease: possible autoimmune connection?

“…However, some important findings are suggestive of an autoimmune mechanism: significant infiltration of the myoenteric plexus by monocytes, presence of the class II-Human Histocompatibility Complex DQwl antigen and antibodies to myoenteric neurons. Specifically, higher genotypic frequency of the human leukocyte antigen (HLA)-DQw1, DQA1*0101, DQA1*103, DQB1*0602, and DQB1*0603 alleles were observed in achalasia patients compared with controls (7,8,(10)(11)(12)(13). Descriptions of inflammatory infiltration in the affected regions of the esophagus in achalasia led to speculation of an autoimmune pathogenesis.…”