DO: 0110101;
Cytogenetic location: 13q12-q14 Genomic coordinates (GRCh38): 13:18,900,001-54,700,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 13q12-q14 | {Dermatitis, atopic, susceptibility to, 5} | 605844 | 2 |
For a clinical description of atopic dermatitis and an overview of linkage studies, see 603165.
Beyer et al. (2000) tested for the association and linkage between atopic dermatitis and 5 chromosomal regions: 5q31-q33, 6p21.3, 12q15-q24.1, 13q12-q31, and 14q11.2/14q32.1-q32.3. Marker analysis was performed in 2 Caucasian populations: (i) 192 unrelated German children with atopic dermatitis and 59 nonatopic children, all from a German birth cohort study; parental DNA was tested in 77 of 192 children with atopic dermatitis; (ii) 40 Swedish families with at least 1 family member with atopic dermatitis selected from the International Study of Asthma and Allergy in Children. In both populations, they found a significant association between atopic dermatitis and marker D13S218 on chromosome 13q12-q14 (ATOD5). In the German population, parental transmission of marker alleles showed significant evidence for linkage to the same marker. Beyer et al. (2000) also found evidence for linkage to markers on 5q31-q33 (ATOD6; 605845) in the German population.
Bradley et al. (2002) conducted a genomewide linkage analysis with 367 microsatellite markers, using a nonparametric affected relative-pair method in 109 atopic dermatitis pedigrees. For the semiquantitative phenotype severity score of atopic dermatitis, suggestive linkage was found to chromosome regions 13q14 (at D13S325, Z = 3.21, P less than 0.001), 3q14 (at D3S2459, Z = 2.55, P less than 0.001), 15q14-q15 (at D15S118, Z = 3.07, P less than .001), and 17q21 (at D17S1290, Z = 3.08, P less than 0.001). Polymorphic markers at 13q14 have also been linked to asthma, suggesting that more than one phenotype of atopic hypersensitivity may be influenced by genes in this region.
Beyer, K., Nickel, R., Freidhoff, L., Bjorksten, B., Huang, S.-K., Barnes, K. C., MacDonald, S., Forster, J., Zepp, F., Wahn, V., Beaty, T. H., Marsh, D. G., Wahn, U. Association and linkage of atopic dermatitis with chromosome 13q12-14 and 5q31-33 markers. J. Invest. Derm. 115: 906-908, 2000. [PubMed: 11069631] [Full Text: https://doi.org/10.1046/j.1523-1747.2000.00096.x]
Bradley, M., Soderhall, C., Luthman, H., Wahlgren, C.-F., Kockum, I., Nordenskjold, M. Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population. Hum. Molec. Genet. 11: 1539-1548, 2002. [PubMed: 12045207] [Full Text: https://doi.org/10.1093/hmg/11.13.1539]