Distinct single nucleotide polymorphism pattern at the FUT2 promoter among human populations.

Many single nucleotide polymorphisms (SNPs) have been identified in the coding region of the FUT2 locus, which encodes secretor type alpha(1,2)fucosyltransferase. In this study, we analyzed the sequence variations in the proximal promoter region of FUT2 in several human populations. In African populations, we found two SNPs with intermediate frequency that affected the promoter activity in vitro with a cell type-specific pattern. On the other hand, these two African SNPs were rarely detected outside Africa. Linkage disequilibria (LD) were observed between some haplotypes of the promoter and coding regions, although no characteristic promoter haplotype was linked with the se(428) allele of the coding region, which is estimated to be old. The present results suggest that the pattern of variation in the proximal promoter differs between Africans and non-Africans.