Gene polymorphism in Netherton and common atopic disease.
Atopic dermatitis (AD) and asthma are characterized by IgE-mediated atopic (allergic) responses to common proteins (allergens), many of which are proteinases. Loci influencing atopy have been localized to a number of chromosomal regions, including the chromosome 5q31 cytokine cluster. Netherton dise...
| Հիմնական հեղինակներ: | , , , , , , , , , , , |
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| Ձևաչափ: | Journal article |
| Լեզու: | English |
| Հրապարակվել է: |
2001
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| _version_ | 1826295595885658112 |
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| author | Walley, A Chavanas, S Moffatt, M Esnouf, R Ubhi, B Lawrence, R Wong, K Abecasis, G Jones, E Harper, J Hovnanian, A Cookson, W |
| author_facet | Walley, A Chavanas, S Moffatt, M Esnouf, R Ubhi, B Lawrence, R Wong, K Abecasis, G Jones, E Harper, J Hovnanian, A Cookson, W |
| author_sort | Walley, A |
| collection | OXFORD |
| description | Atopic dermatitis (AD) and asthma are characterized by IgE-mediated atopic (allergic) responses to common proteins (allergens), many of which are proteinases. Loci influencing atopy have been localized to a number of chromosomal regions, including the chromosome 5q31 cytokine cluster. Netherton disease is a rare recessive skin disorder in which atopy is a universal accompaniment. The gene underlying Netherton disease (SPINK5) encodes a 15-domain serine proteinase inhibitor (LEKTI) which is expressed in epithelial and mucosal surfaces and in the thymus. We have identified six coding polymorphisms in SPINK5 (Table 1) and found that a Glu420-->Lys variant shows significant association with atopy and AD in two independent panels of families. Our results implicate a previously unrecognized pathway for the development of common allergic illnesses. |
| first_indexed | 2024-03-07T04:03:28Z |
| format | Journal article |
| id | oxford-uuid:c55edbe8-00ab-4d15-a2df-dfdf01e43e17 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:03:28Z |
| publishDate | 2001 |
| record_format | dspace |
| spelling | oxford-uuid:c55edbe8-00ab-4d15-a2df-dfdf01e43e172022-03-27T06:30:17ZGene polymorphism in Netherton and common atopic disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c55edbe8-00ab-4d15-a2df-dfdf01e43e17EnglishSymplectic Elements at Oxford2001Walley, AChavanas, SMoffatt, MEsnouf, RUbhi, BLawrence, RWong, KAbecasis, GJones, EHarper, JHovnanian, ACookson, WAtopic dermatitis (AD) and asthma are characterized by IgE-mediated atopic (allergic) responses to common proteins (allergens), many of which are proteinases. Loci influencing atopy have been localized to a number of chromosomal regions, including the chromosome 5q31 cytokine cluster. Netherton disease is a rare recessive skin disorder in which atopy is a universal accompaniment. The gene underlying Netherton disease (SPINK5) encodes a 15-domain serine proteinase inhibitor (LEKTI) which is expressed in epithelial and mucosal surfaces and in the thymus. We have identified six coding polymorphisms in SPINK5 (Table 1) and found that a Glu420-->Lys variant shows significant association with atopy and AD in two independent panels of families. Our results implicate a previously unrecognized pathway for the development of common allergic illnesses. |
| spellingShingle | Walley, A Chavanas, S Moffatt, M Esnouf, R Ubhi, B Lawrence, R Wong, K Abecasis, G Jones, E Harper, J Hovnanian, A Cookson, W Gene polymorphism in Netherton and common atopic disease. |
| title | Gene polymorphism in Netherton and common atopic disease. |
| title_full | Gene polymorphism in Netherton and common atopic disease. |
| title_fullStr | Gene polymorphism in Netherton and common atopic disease. |
| title_full_unstemmed | Gene polymorphism in Netherton and common atopic disease. |
| title_short | Gene polymorphism in Netherton and common atopic disease. |
| title_sort | gene polymorphism in netherton and common atopic disease |
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