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. Author manuscript; available in PMC: 2015 Oct 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 May 13;134(4):891–899.e3. doi: 10.1016/j.jaci.2014.03.037

Table 1.

Selected genes, functions and associated disorders.

#SNPsa Gene Full Gene Name Chr. Reported Processes and Functionc Reported Associated Disordersd
8b FLG filaggrin 1q21.3 Keratinocyte differentiation, multicellular organismal development, cytoplasmic membrane bounded vesicle, intermediate filament, structural molecule activity atopic dermatitis, eczema, ichthyosis vulgaris, asthma, rheumatoid arthritis, psoriasis, skin diseases, ichythyosis, atopy, inflammation

13 SPINK 5 Serine protease inhibitor Kazal-type 5 5q32 Peptidase inhibitor activity, serine-type endopeptidase inhibitor activity Netherton syndrome, atopic dermatitis, asthma, skin diseases, congenital ichthyosis, atopy, congenital erythroderma ichthyosiform, ichthyosis, psoriasis, growth retardation

8 TSLP Thymic stromal lymphopoietin 5q22.1 Extracellular region and space, cytokine activity, protein binding inflammation, asthma, atopic dermatitis, necrosis, tumors, allergic asthma, skin lesions, mixed cryoglobulinemia, allergy, membranoproliferative glomerulonephritis
a

Indicates the total number of tagging SNPs that entered the analyses.

b

This includes the 2282del4 deletion and R501X truncation.

c

Obtained from Gene Ontology website (www.geneontology.org).

d

Reported disease associations were obtained from the top 10 Novoseek disease relationships hits (number of articles in which both the gene's symbol or description and the disease appear) from GeneCards® (www.genecards.org).