Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9103449 | Oral Science International | 2005 | 5 Pages |
Abstract
Human β-defensin (hBD) 2 is an epithelial antimicrobial peptide. We studied single-nucleotide polymorphisms in the gene of hBD-2 in a Japanese population, and estimated the effect of a polymorphism in the promoter/enhancer region on the transcriptional activity. By sequencing the hBD-2 gene of 50 unrelated individuals, we detected one SNP in exon 2 and nine SNPs in the promoter/enhancer region. The SNP in the coding region at the + 1765 position is synonymous [CCC (Pre)âCCT (Pre)]. One SNP in the promoter region (-1029) is located at the consensus sequence for NF-IL6 binding. By luciferase reporter assay and electrophoretic mobility shift assay, the wild-type (G) of -1029 showed significantly lower transcriptional activity than did the variant-type (A). The SNP at position -1029 may influence the hBD-2 expression and cause genetic variations in susceptibility to infectious diseases.
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Authors
Kaoru Kusano, Yoshihiro (Chief: Professor), Michiko Nishimura, Toshiya Arakawa, Maiko Takeshima, Atsushi (Chief: Doctor), Taishin (Chief: Professor), Tohru (Chief: Professor),