Skip to main content
Log in

Significant DQw1 association in achalasia

  • Original Articles
  • Published:
Digestive Diseases and Sciences Aims and scope Submit manuscript

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, DQwl, with 83% of Caucasians (P <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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Cohen S, Lipshutz W: Lower esophageal sphincter dysfunction in achalasia. Gastroenterology 61:814–820, 1972

    Google Scholar 

  2. Cassella R, Brown A, Sayre G, Ellis F: Achalasia of the esophagus: Pathologic and etiologic considerations. Ann Surg 1960:474–486, 1964

    Google Scholar 

  3. Cassella R, Ellis F, Brown A: Fine structure changes in achalasia of the esophagus. I. Vagus Nerve. Am J Pathol 46:279–288, 1965

    PubMed  Google Scholar 

  4. Simila S, Kokkonen J, Kaski M: Achalasia Sicca-juvenile Sjogren's syndrome with achalasia and gastric hyposecretion. Eur J Pediatr 129:175–181, 1978

    PubMed  Google Scholar 

  5. Weissmann G: Sjogren's syndrome. Review of the literature and report of a case with achalasia of the esophagus. Am J Med 24:475–481, 1958

    PubMed  Google Scholar 

  6. Smith B: The neurological lesion in achalasia of the cardia. Gut 11:388–391, 1970

    PubMed  Google Scholar 

  7. Misiewicz JJ, Waller SL, Anthony PP, Gummer JWP: Achalasia of the cardia: Pharmacology and histopathology of isolated cardiac sphincteric muscle from patients with and without achalasia. Q J Med 38(149): 17–30, 1969

    PubMed  Google Scholar 

  8. London FA, Raab DE, Fuller J, Olsen AM: Achalasia in three siblings: A rare occurrence. Mayo Clin Proc 52:97–100, 1977

    PubMed  Google Scholar 

  9. Nagles RW, Schwartz RD, Stahl WM Jr, Spiro HM: Achalasia in fraternal twins. Ann Intern Med 59:906–910, 1963

    PubMed  Google Scholar 

  10. Mackler D, Schneider R: Achalasia in father and son. Am J Dig Dis 23(11): 1042–1045, 1978

    PubMed  Google Scholar 

  11. Kilpatrick ZM, Miller SS: Achalasia in mother and daughter. Gastroenterology 62:1042–1046, 1972

    PubMed  Google Scholar 

  12. Westley CR, Hervst JJ, Goldman S, Wiser WC: Infantile achalasia: Inherited as an autosomal recessive disorder. J Pediatr 87:243–246, 1975

    PubMed  Google Scholar 

  13. Singh H, Gupta HL, Sethi RS, Khetartal SK: Cardiac achalasia in childhood. Postgrad Med J 45:327–335, 1969

    PubMed  Google Scholar 

  14. Rozycki DL, Ruben RJ, Rapin I, Spiro AJ: Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting and achalasia. Arch Otoloaryngol 93:194–197, 1971

    Google Scholar 

  15. Sullivan KA, Amos BD: The HLA system and its detection.In Manual of Clinical Laboratory Immunology, 3rd ed. NR Rose, H Freidman, JL Fahey (eds). Washington, D.C., American Society for Microbiology, 1986, pp. 835–846.

    Google Scholar 

  16. Terasaki PI: Histocompatibility Testing 1980. UCLA Tissue Typing Laboratory, Los Angeles, CA, 1980

    Google Scholar 

  17. Svejgaard A: HLA and disease.In Manual of Clinical Laboratory Immunology, 3rd Ed. NR Rose, H Freidman, JL Fahey (eds). Washington, D.C., American Society for Microbiology, 1986, pp. 912–920

    Google Scholar 

  18. Woolf B: On estimating the relation between blood group and disease. Ann Hum Genet 19:251–253, 1955

    PubMed  Google Scholar 

  19. Tosi R, Vismara D, Tanigaki N, Ferrara GB, Cicimarra F, Buffolano W, Folio D, Auricchio S: Evidence that celiac disease is primarily associated with aDC locus allelic specificity. Clin Immunol Immunopathol 28:395–404, 1983

    PubMed  Google Scholar 

  20. Moens H, Fand NR: Hashimoto's thyroiditis is associated with HLA-DRw3. N Engl J Med 229:133, 1987

    Google Scholar 

  21. Fye KH, Terasaki PI, Michalski JP, Daniels TE, Opelz G, Talal N: Relationship of HLA-DW3 and HLA-B8 to Sjogrens syndrome. Arthritis Rheum 21:337–342, 1978

    PubMed  Google Scholar 

  22. Vadheim CM, Rotter JI, Maclaren NK, Riley WJ, Andersen CE: Preferential transmission of diabetic alleles within theHLA gene complex. N Engl J Med 315:1314–1318, 1986

    PubMed  Google Scholar 

  23. Bottazzo GF, Pujol-Borrell R, Hanafusa T, Feldman M: Role of aberrant HLA-DR expression and antigen presentation in induction of endocrine autoimmunity. Lancet:1115–1118, 1983

  24. Rosa J, Fellous M: The effect of gamma-interferon on MHC antigens. Immunol Today 5(9):261–262, 1984

    Google Scholar 

  25. Doniach D, Bottazzo GF: Early detection of autoimmune endocrine disorders. Hosp Up-Date 9:1145–1159, 1923

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

This protocol (WR-1435) was approved by the WRAMC Human Use Committee/Institutional Review Board and supported by Department of Clinical Investigation funding.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wong, R.K.H., Maydonovitch, C.L., Metz, S.J. et al. Significant DQw1 association in achalasia. Digest Dis Sci 34, 349–352 (1989). https://doi.org/10.1007/BF01536254

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01536254

Key words

Navigation