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Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population.
J Dermatol Sci 2009; 54(1):25-30JD

Abstract

BACKGROUND

Atopic dermatitis (AD) patients have been recognized to have an increased susceptibility to cutaneous colonization and infection by bacteria, fungi and viruses.

OBJECTIVE

We wanted to evaluate the associations of single nucleotide polymorphism (SNP) and the haplotype in the defensin (DEFA) and defensin (DEFB) genes, and so we performed genotyping for the SNPs in these genes in both AD patients and normal controls.

METHOD

We genotyped 27 SNPs from the DEFA 4, 5 and 6 genes and the DEFB1 gene for 1089 case-control samples (631 AD patients and 458 normal controls). We analyzed the SNPs and haplotypes in each gene.

RESULT

We identified that two SNPs and the haplotype CT in the DEFB1 gene are associated with AD in Koreans. The rs5743399 (-2266T/C) SNP is associated with AD, and especially with the high IgE, extrinsic type, and the rs5743409 (-1241T/G) SNP is associated with AD. On the haplotype analysis of these two SNPs, the haplotype CT is associated with AD, and especially with the allergic, extrinsic type of AD. However, we could not find any significant associations between the SNPs in the three DEFA genes and AD.

CONCLUSION

We found that the rs5743399 SNP, the rs5743409 SNP and the CT haplotype in the DEFB1 gene were significantly associated with the susceptibility to AD. We also found that rs5743399 polymorphism and the haplotype CT in this gene showed a strong association with the allergic, extrinsic type of AD. These results suggest that the DEFB1 gene has a main effect on the skin inflammation and/or skin responsiveness to any kind of allergic reaction.

Authors+Show Affiliations

Department of Dermatology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul 135-710, South Korea.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

19135873

Citation

Kim, Eugene, et al. "Single Nucleotide Polymorphisms and the Haplotype in the DEFB1 Gene Are Associated With Atopic Dermatitis in a Korean Population." Journal of Dermatological Science, vol. 54, no. 1, 2009, pp. 25-30.
Kim E, Lee JE, Namkung JH, et al. Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population. J Dermatol Sci. 2009;54(1):25-30.
Kim, E., Lee, J. E., Namkung, J. H., Kim, P. S., Kim, S., Shin, E. S., ... Yang, J. M. (2009). Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population. Journal of Dermatological Science, 54(1), pp. 25-30. doi:10.1016/j.jdermsci.2008.12.005.
Kim E, et al. Single Nucleotide Polymorphisms and the Haplotype in the DEFB1 Gene Are Associated With Atopic Dermatitis in a Korean Population. J Dermatol Sci. 2009;54(1):25-30. PubMed PMID: 19135873.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population. AU - Kim,Eugene, AU - Lee,Jong-Eun, AU - Namkung,Jung-Hyun, AU - Kim,Pyoung-Su, AU - Kim,Sook, AU - Shin,Eun-Soon, AU - Cho,Eun-Young, AU - Yang,Jun-Mo, Y1 - 2009/01/09/ PY - 2008/07/07/received PY - 2008/11/26/revised PY - 2008/12/02/accepted PY - 2009/1/13/entrez PY - 2009/1/13/pubmed PY - 2009/6/20/medline SP - 25 EP - 30 JF - Journal of dermatological science JO - J. Dermatol. Sci. VL - 54 IS - 1 N2 - BACKGROUND: Atopic dermatitis (AD) patients have been recognized to have an increased susceptibility to cutaneous colonization and infection by bacteria, fungi and viruses. OBJECTIVE: We wanted to evaluate the associations of single nucleotide polymorphism (SNP) and the haplotype in the defensin (DEFA) and defensin (DEFB) genes, and so we performed genotyping for the SNPs in these genes in both AD patients and normal controls. METHOD: We genotyped 27 SNPs from the DEFA 4, 5 and 6 genes and the DEFB1 gene for 1089 case-control samples (631 AD patients and 458 normal controls). We analyzed the SNPs and haplotypes in each gene. RESULT: We identified that two SNPs and the haplotype CT in the DEFB1 gene are associated with AD in Koreans. The rs5743399 (-2266T/C) SNP is associated with AD, and especially with the high IgE, extrinsic type, and the rs5743409 (-1241T/G) SNP is associated with AD. On the haplotype analysis of these two SNPs, the haplotype CT is associated with AD, and especially with the allergic, extrinsic type of AD. However, we could not find any significant associations between the SNPs in the three DEFA genes and AD. CONCLUSION: We found that the rs5743399 SNP, the rs5743409 SNP and the CT haplotype in the DEFB1 gene were significantly associated with the susceptibility to AD. We also found that rs5743399 polymorphism and the haplotype CT in this gene showed a strong association with the allergic, extrinsic type of AD. These results suggest that the DEFB1 gene has a main effect on the skin inflammation and/or skin responsiveness to any kind of allergic reaction. SN - 1873-569X UR - https://www.unboundmedicine.com/medline/citation/19135873/Single_nucleotide_polymorphisms_and_the_haplotype_in_the_DEFB1_gene_are_associated_with_atopic_dermatitis_in_a_Korean_population_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0923-1811(08)00370-8 DB - PRIME DP - Unbound Medicine ER -