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Single‐nucleotide Polymorphism (SNP) in β ‐Defensin 2 in a Japanese Population and an Effect of – 1029 SNP on Promoter Activity
Author(s) -
Kusano Kaoru,
Abiko Yoshihiro,
Nishimura Michiko,
Arakawa Toshiya,
Takeshima Maiko,
Fujimoto Atsushi,
Takuma Taishin,
Kaku Tohru
Publication year - 2005
Publication title -
oral science international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.256
H-Index - 13
eISSN - 1881-4204
pISSN - 1348-8643
DOI - 10.1016/s1348-8643(05)80010-2
Subject(s) - single nucleotide polymorphism , snp , enhancer , biology , genetics , exon , coding region , gene , promoter , microbiology and biotechnology , population , electrophoretic mobility shift assay , gene expression , genotype , medicine , environmental health
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)→CCT (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.