SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples

Background: Ferroportin is a transmembrane protein responsible for iron export from enterocytes and macrophages. Mutation c.744G → T (Q248H), located in exon 6 of the ferroportin gene SLC40A1, is found as a polymorphism in populations of African origin. This mutation has been extensively analysed in African-Americans, but poorly studied in native African populations. Aim: To increase information about Q248H mutation frequency in native sub-Saharan populations examining three West African populations. Subjects and methods: Samples from S. Tomé e Príncipe (n = 115), Angola (n = 156) and Republic of Guinea (n = 170) were analysed for Q248H mutation and for two polymorphisms, IVS1(-24)G → C and microsatellite (CGG)n, using standard molecular methodology. Results: The estimated frequencies of Q248H allele were 2.2% in S. Tomé e Príncipe, 3.5% in Angola and 4.1% in Republic of Guinea. Analysis of polymorphisms IVS1(-24)G → C and (CGG)n showed mutation allele c.744T to be strongly associated with haplotype IVS1(-24)G/(CGG)7. Conclusions: This study confirmed the presence of Q248H mutation at polymorphic frequencies in three native sub-Saharan populations. Analysis of two additional markers in the same gene support a single origin of the mutant allele c.744T in the haplotype background IVS1(-24)G/(CGG) ₇.