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 language | English (US) |
|---|---|
| Pages (from-to) | 177-183 |
| Number of pages | 7 |
| Journal | Journal of Autoimmunity |
| Volume | 11 |
| Issue number | 2 |
| DOIs | |
| State | Published - Jan 1 1998 |
| Externally published | Yes |
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Keywords
- APS-1
- Candidate gene
- Chromosome 21q22.3
- Genetic linkage
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology
Cite this
The gene responsible for autoimmune polyglandular syndrome type 1 maps to chromosome 21q22.3 in US patients. / Chen, Qiao Yi; Lan, Michael S.; She, Jin-Xiong; Maclaren, Noel K.
In: Journal of Autoimmunity, Vol. 11, No. 2, 01.01.1998, p. 177-183.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The gene responsible for autoimmune polyglandular syndrome type 1 maps to chromosome 21q22.3 in US patients
AU - Chen, Qiao Yi
AU - Lan, Michael S.
AU - She, Jin-Xiong
AU - Maclaren, Noel K.
PY - 1998/1/1
Y1 - 1998/1/1
N2 - 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.
AB - 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.
KW - APS-1
KW - Candidate gene
KW - Chromosome 21q22.3
KW - Genetic linkage
UR - http://www.scopus.com/inward/record.url?scp=0031800658&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031800658&partnerID=8YFLogxK
U2 - 10.1006/jaut.1998.0191
DO - 10.1006/jaut.1998.0191
M3 - Article
C2 - 9650097
AN - SCOPUS:0031800658
VL - 11
SP - 177
EP - 183
JO - Journal of Autoimmunity
JF - Journal of Autoimmunity
SN - 0896-8411
IS - 2
ER -