Rs11568350

Ferroportin is the only currently known cellular iron exporter. It is a transmembrane protein responsible for iron export from enterocytes, macrophages, and many other cell types.

rs11568350: Mutation c.744G → T mutation in exon 6 of the SLC40A1 gene, resulting in Q248H amino acid substitution in the ferroportin-1 protein. The more common rs11568350(G) allele encodes the Q (glutamine) at this codon, while the less common rs11568350(T) encodes the H (histidine). The Q248H polymorphism is found primarily in populations of African origin.

In one study of 200 HIV-positive women in Rwanda, rs11568350(G;T) heterozygotes (i.e. Q248H carriers) had significantly higher values for serum ferritin (p=0.001) and significantly lower values for serum hepcidin (p=0.001) and transferrin (p=0.01) compared to rs11568350(G;G) homozygotes. They may also have been prone to higher prevalence of some opportunistic infections.