Association of SPINK5 gene polymorphisms with atopic dermatitis in Northeast China
Abstract
Background Defect in the SPINK5 gene is known to be implicated in Netherton syndrome (NS), and has been suggested to be a locus predisposing to atopy in general. Coding polymorphisms in SPINK5 exons 13, 14 and 26 have been reported to be associated with atopic dermatitis (AD), asthma and high level of IgE. Objectives To examine whether the SPINK5 gene polymorphisms are associated with AD in Northeast China, and to assess how variants influence selected phenotypic traits. Methods A case-control study was conducted on four non-synonymous polymorphisms in the coding region of SPINK5 in AD and controls. The SPINK5 gene polymorphisms were analyzed using the PCR and RFLP methods. Results For the four non-synonymous SNPs, A1103G(Asn368Ser), G1156A(Asp386Asn), G1258A(Glu420Lys), G2475T(Glu825Asp) in SPINK5, the allelic frequencies in the AD cohort were 0.55 for 1103G, 0.57 for 1156A, 0.54for 1258A, 0.62 for 2475T, consistent with those already published in the original British and Japanese cohorts. The T allele of SNP 2475G > T was found to be significantly associated with AD. There were significant differences in genotype frequencies for G1258A(Glu420Lys) and G2475T(Glu825Asp) but not for A1103G(Asn368Ser) and G1156A(Asp386Asn). Genotypes GA(420Glu/Lys), TT (2475Asp/Asp) and GT(2475Glu/Asp) were significantly more frequent in AD. However, the SPINK5 gene polymorphisms was found not to be associated with AD in regard to either serum IgE levels, concurrent allergic asthma or early ons…
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Several SPINK5 polymorphisms are associated with AD incidence in Chinese individuals.
“Several SPINK5 polymorphisms are associated with AD incidence in Chinese individuals.”
From Update on the pathogenesis of atopic dermatitis. (2024) · cites this paper as [37]
Changes in the SPINK5 gene also lead to changes in the skin barrier, as they are related to the endogenous protease inhibitor LEKTI, which plays an important role in the homeostasis of the skin barrier, including epidermal desquamation and constitution of the lipid barrier.
“Changes in the SPINK5 gene also lead to changes in the skin barrier, as they are related to the endogenous protease inhibitor LEKTI, which plays an important role in the homeostasis of the skin barrier, including epidermal desquamation and constitution of the lipid barrier.”
From Update on the pathogenesis of atopic dermatitis. (2024) · cites this paper as [37]
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Egawa, G., & Kabashima, K. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.06.002 · Cited by 265 · see citing works
Rerknimitr, P., Otsuka, A., Nakashima, C., & Kabashima, K. (2017) · Inflammation and Regeneration · doi:10.1186/s41232-017-0044-7 · Cited by 187 · see citing works
Update on the pathogenesis of atopic dermatitis.
Criado, P. R., Miot, H. A., Bueno-Filho, R., Ianhez, M., Criado, R. F. J., & de Castro, C. C. S. (2024) · Anais brasileiros de dermatologia · doi:10.1016/j.abd.2024.06.001 · Cited by 66 · see citing works
- Authors
- Zhao, L. P., Di, Z., Zhang, L., Wang, L., Ma, L., Lv, Y., Hong, Y., Wei, H., Chen, H. D., & Gao, X. H.
- Affiliations
- General Hospital of Shenyang Military Region (CN)
- First Hospital of China Medical University (CN)
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Gao, X.H.
- Venue
- Journal of the European Academy of Dermatology and Venereology
- Publisher
- Wiley
- Published
- 2011-05-18
- Volume
- 26
- Issue
- 5
- Pages
- 572-577
- ISSN
- 0926-9959 (ISSN-L)
- 1468-3083
- OpenAlex
- W1480841160
- Cited by
- 66
- References
- 0
- Citations by year
- 2026: 1 · 2025: 9 · 2024: 7 · 2023: 3 · 2022: 5 · 2021: 6 · 2020: 4 · 2019: 2 · 2018: 4 · 2017: 4 · 2016: 5 · 2015: 4 · 2014: 4 · 2013: 5 · 2012: 3
- FWCI
- 5.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of the European Academy of Dermatology and Venereology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Dermatology › Dermatology and Skin Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- SPINK5, atopic dermatitis, genetic polymorphism, single nucleotide polymorphisms, Netherton syndrome, non-synonymous variants, genetic association, serum IgE, allergic asthma, genotype frequency, Northeast China
- MeSH terms
- Serine Peptidase Inhibitor Kazal-Type 5, Adolescent, Adult, Base Sequence, Child, China, Dermatitis, Atopic, Female, Genotype, Humans, Male, Phenotype, Cohort Studies, DNA Primers, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Proteinase Inhibitory Proteins, Secretory, Young Adult
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