Six Novel Single Nucleotide Polymorphisms of the Steroid Sulfatase Gene in a Japanese Population

Summary:Steroid sulfatase (STS) is a microsomal enzyme responsible for the formation of 3β-hydroxysteroid from the corresponding sulfate conjugates. Screening of all exons, exon-intron boundaries and the 5'-flanking region of the STS gene in 93 healthy Japanese individuals was carried out. Among seven single nucleotide polymorphisms (SNPs) identified in this study, six were novel, including one in the untranslated region of exon 1, one in exon 10, and four in the 5'-flanking region. The nonsynonymous SNP (1647G > A) in exon 10 caused amino-acid replacement, Val476Met, with a frequency of 0.014. The allele frequencies of the other SNPs were 0.071 for 155G>A, 0.007 for –21G>A, 0.014 for –1117T>C, 0.106 for –1588G>A, 0.007 for –2427G>A and 0.007 for –2837T>C.