G2Cdb::Human Disease report

Disease id
D00000247
Name
Atopic dermatitis
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002531 SNAP25
synaptosomal-associated protein, 25kDa
Y (15949016) Polymorphism (P) N
G00002531 SNAP25
synaptosomal-associated protein, 25kDa
Y (15753919) Polymorphism (P) Y
G00002531 SNAP25
synaptosomal-associated protein, 25kDa
Y (15753894) Single nucleotide polymorphism (SNP) N

References

  • Lack of association of SPINK5 polymorphisms with nonsyndromic atopic dermatitis in the population of Northern Germany.

    Fölster-Holst R, Stoll M, Koch WA, Hampe J, Christophers E and Schreiber S

    The British journal of dermatology 2005;152;6;1365-7

  • Polymorphisms in SPINK5 are not associated with asthma in a Dutch population.

    Jongepier H, Koppelman GH, Nolte IM, Bruinenberg M, Bleecker ER, Meyers DA, te Meerman GJ and Postma DS

    Department of Pulmonary Rehabilitation, Beatrixoord, The Netherlands.

    Background: Asthma and allergic phenotypes are complex genetic diseases with known linkage to chromosome 5q. This region has many candidate genes, including serine protease inhibitor Kazal type 5 (SPINK5), which has been associated with asthma and atopic dermatitis in family-based studies of children with atopic dermatitis.

    Objective: We sought to investigate whether single nucleotide polymorphisms in SPINK5 are associated with asthma, atopic phenotypes, and atopic dermatitis.

    Methods: We investigated whether single nucleotide polymorphisms in SPINK5 (ie, -785 A/G, Asn368Ser, and Lys420Glu) are associated with asthma, atopic phenotypes, and atopic dermatitis in 200 families ascertained by a proband with asthma (nonaffected spouses served as a matched control population) and an independent set of 252 trios with asthma.

    Results: We found no association with asthma, atopic phenotypes, and atopic dermatitis after correction for multiple testing.

    Conclusion: The negative results in this study suggest that SPINK5 is not associated with asthma or atopic phenotypes in individuals ascertained by a proband with asthma. This is consistent with the finding that SPINK5 is not expressed in the lung. Because our patients were ascertained for asthma, a role of SPINK5 in atopic dermatitis cannot be excluded.

    The Journal of allergy and clinical immunology 2005;115;3;486-92

  • SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis.

    Kusunoki T, Okafuji I, Yoshioka T, Saito M, Nishikomori R, Heike T, Sugai M, Shimizu A and Nakahata T

    The Journal of allergy and clinical immunology 2005;115;3;636-8

Literature (3)

Pubmed - human_disease

  • Lack of association of SPINK5 polymorphisms with nonsyndromic atopic dermatitis in the population of Northern Germany.

    Fölster-Holst R, Stoll M, Koch WA, Hampe J, Christophers E and Schreiber S

    The British journal of dermatology 2005;152;6;1365-7

  • Polymorphisms in SPINK5 are not associated with asthma in a Dutch population.

    Jongepier H, Koppelman GH, Nolte IM, Bruinenberg M, Bleecker ER, Meyers DA, te Meerman GJ and Postma DS

    Department of Pulmonary Rehabilitation, Beatrixoord, The Netherlands.

    Background: Asthma and allergic phenotypes are complex genetic diseases with known linkage to chromosome 5q. This region has many candidate genes, including serine protease inhibitor Kazal type 5 (SPINK5), which has been associated with asthma and atopic dermatitis in family-based studies of children with atopic dermatitis.

    Objective: We sought to investigate whether single nucleotide polymorphisms in SPINK5 are associated with asthma, atopic phenotypes, and atopic dermatitis.

    Methods: We investigated whether single nucleotide polymorphisms in SPINK5 (ie, -785 A/G, Asn368Ser, and Lys420Glu) are associated with asthma, atopic phenotypes, and atopic dermatitis in 200 families ascertained by a proband with asthma (nonaffected spouses served as a matched control population) and an independent set of 252 trios with asthma.

    Results: We found no association with asthma, atopic phenotypes, and atopic dermatitis after correction for multiple testing.

    Conclusion: The negative results in this study suggest that SPINK5 is not associated with asthma or atopic phenotypes in individuals ascertained by a proband with asthma. This is consistent with the finding that SPINK5 is not expressed in the lung. Because our patients were ascertained for asthma, a role of SPINK5 in atopic dermatitis cannot be excluded.

    The Journal of allergy and clinical immunology 2005;115;3;486-92

  • SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis.

    Kusunoki T, Okafuji I, Yoshioka T, Saito M, Nishikomori R, Heike T, Sugai M, Shimizu A and Nakahata T

    The Journal of allergy and clinical immunology 2005;115;3;636-8

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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