The gene responsible for autoimmune polyglandular syndrome type 1 maps to chromosome 21q22.3 in US patients

Qiao Yi Chen, Michael S. Lan, Jing Xiong She, Noel K. Maclaren

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Autoimmune polyglandular syndrome type 1 [APS-1] comprises multiple organ-specific autoimmunities such as acquired hypoparathyroidism and autoimmune Addison's disease, and a predisposition to certain infections such as chronic mucocutaneous candidiasis. An APS-1 candidate gene was assigned to chromosome 21q22.3 by linkage analyses in patients with APS-1 from Finland. To examine the influence of ethnic and geographic differences on the location of the candidate gene locus, we studied 24 US patients with APS-1 by microsatellite marker typing, using five microsatellite markers, D21S49, PFKL, D21S171, D21S1903 and CD18, selected from chromosome 21q22.3. By allelic association analyses, the frequencies of allele number 5 for D21S171 and allele number 8 for D21S1903 were significantly higher in the 24 patients with APS-1 than in 33 controls (33/48 vs. 31/66, P=0.0207, X2=5.35; 12/48 vs. 7/66, P=0.0418, X2=4.15 respectively). The frequency of homozygosity for allele number 5 of D21S171 was also significantly higher in the patients than in controls, 15/24 vs. 9/33 (P=0.0078, X2=7.07). Maximum lod scores detected for the five markers in nine families (containing 15 of the patients with APS-1) were: 2.384 for D21S49, 3.144 for PFKL, 3.506 for D21S171, 4.329 for D21S1903, and 1.130 for CD18. These results confirm the linkage of the candidate APS-1 gene to 21q22.3 in US APS-1 patients, and suggest that the candidate gene is located near the D21S1903 marker. The demonstration of the location of the APS-1 candidate gene to 21q22.3 in an out-bred heterogeneous patient population should promote the physical mapping of the responsible gene.

Original languageEnglish (US)
Pages (from-to)177-183
Number of pages7
JournalJournal of Autoimmunity
Volume11
Issue number2
DOIs
StatePublished - Apr 1998
Externally publishedYes

Keywords

  • APS-1
  • Candidate gene
  • Chromosome 21q22.3
  • Genetic linkage

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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