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Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans.
Exp Dermatol 2010; 19(12):1048-53ED

Abstract

Clinical studies, including twin studies, support the concept that the risk of atopic dermatitis (AD) may be mediated through skin-specific genes, rather than simply through systemic immune or atopy risk genes. The SPINK5 gene is expressed on epithelial surfaces and may provide protection against other allergenic serine proteases. Mutations in the SPINK5 gene result in Netherton syndrome, a disorder characterised by AD, ichthyosis, and elevated serum IgE levels. We genotyped 21 single nucleotide polymorphisms (SNPs) from the SPINK5 gene for 1090 case-control samples (631 patients with AD and 459 normal controls) and analysed the SNPs and haplotypes in this gene and also searched for gene-gene interactions between SPINK5 and the DEFB1 gene that we previously reported. Six SNPs [rs17718511 (P = 0.026), rs17860502 (P = 0.024), KN0001820 (P = 0.045), rs60978485 (P = 0.007), rs17718737 (P = 0.02), and rs1422985 (P = 0.038)] and the haplotype TAA (rs60978485, rs6892205, rs2303064; P = 0.023) in the SPINK5 gene showed significant different allelic or genotypic distributions between the AD group and the control group. We also found that four SNPs [rs17718511 (P = 0.033), rs17860502 (P = 0.031), rs60978485 (P = 0.005), rs17718737 (P = 0.023)] and the haplotype TAA (P = 0.02) in the SPINK5 gene showed associations with the susceptibility of the allergic type of AD (ADe). In addition to this finding, we speculate that the SNPs from DEFB1 and SPINK5 affect the individual susceptibility to development of ADe in an additive manner. This study provides evidence for a significant interaction between allergens and the SPINK5 gene that may contribute to ADe susceptibility.

Authors+Show Affiliations

Case Western Reserve University School of Medicine, Cleveland, OH, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21087323

Citation

Namkung, Jung-Hyun, et al. "Hint for Association of Single Nucleotide Polymorphisms and Haplotype in SPINK5 Gene With Atopic Dermatitis in Koreans." Experimental Dermatology, vol. 19, no. 12, 2010, pp. 1048-53.
Namkung JH, Lee JE, Kim E, et al. Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans. Exp Dermatol. 2010;19(12):1048-53.
Namkung, J. H., Lee, J. E., Kim, E., Byun, J. Y., Kim, S., Shin, E. S., ... Yang, J. M. (2010). Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans. Experimental Dermatology, 19(12), pp. 1048-53. doi:10.1111/j.1600-0625.2010.01142.x.
Namkung JH, et al. Hint for Association of Single Nucleotide Polymorphisms and Haplotype in SPINK5 Gene With Atopic Dermatitis in Koreans. Exp Dermatol. 2010;19(12):1048-53. PubMed PMID: 21087323.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans. AU - Namkung,Jung-Hyun, AU - Lee,Jong-Eun, AU - Kim,Eugene, AU - Byun,Ji-Yeon, AU - Kim,Sook, AU - Shin,Eun-Soon, AU - Cho,Eun-Young, AU - Yang,Jun-Mo, PY - 2010/11/20/entrez PY - 2010/11/23/pubmed PY - 2011/4/20/medline SP - 1048 EP - 53 JF - Experimental dermatology JO - Exp. Dermatol. VL - 19 IS - 12 N2 - Clinical studies, including twin studies, support the concept that the risk of atopic dermatitis (AD) may be mediated through skin-specific genes, rather than simply through systemic immune or atopy risk genes. The SPINK5 gene is expressed on epithelial surfaces and may provide protection against other allergenic serine proteases. Mutations in the SPINK5 gene result in Netherton syndrome, a disorder characterised by AD, ichthyosis, and elevated serum IgE levels. We genotyped 21 single nucleotide polymorphisms (SNPs) from the SPINK5 gene for 1090 case-control samples (631 patients with AD and 459 normal controls) and analysed the SNPs and haplotypes in this gene and also searched for gene-gene interactions between SPINK5 and the DEFB1 gene that we previously reported. Six SNPs [rs17718511 (P = 0.026), rs17860502 (P = 0.024), KN0001820 (P = 0.045), rs60978485 (P = 0.007), rs17718737 (P = 0.02), and rs1422985 (P = 0.038)] and the haplotype TAA (rs60978485, rs6892205, rs2303064; P = 0.023) in the SPINK5 gene showed significant different allelic or genotypic distributions between the AD group and the control group. We also found that four SNPs [rs17718511 (P = 0.033), rs17860502 (P = 0.031), rs60978485 (P = 0.005), rs17718737 (P = 0.023)] and the haplotype TAA (P = 0.02) in the SPINK5 gene showed associations with the susceptibility of the allergic type of AD (ADe). In addition to this finding, we speculate that the SNPs from DEFB1 and SPINK5 affect the individual susceptibility to development of ADe in an additive manner. This study provides evidence for a significant interaction between allergens and the SPINK5 gene that may contribute to ADe susceptibility. SN - 1600-0625 UR - https://www.unboundmedicine.com/medline/citation/21087323/Hint_for_association_of_single_nucleotide_polymorphisms_and_haplotype_in_SPINK5_gene_with_atopic_dermatitis_in_Koreans_ L2 - https://doi.org/10.1111/j.1600-0625.2010.01142.x DB - PRIME DP - Unbound Medicine ER -