Geographic distribution of Ala62Thr variant associated to Uric Acid Nephrolithiasis in Sub-Saharan and Mediterranean area

Recently, we identified a susceptibility locus for human Uric Acid Nephrolithiasis (UAN) on 10q21-q22 and showed that a variant (Ala62Thr) of a novel gene (ZNF365) encoding a specific protein (Talanin) is associated with Uric Acid Nephrolithiasis (UAN) (OMIM 605990). We analyzed the frequency of this polymorphism associated with UAN in some ethnic groups from the Mediterranean to the African area. We found that this variant is common in Sardinian (frequency 32%) and Sicilian populations (frequency 23%). Both Mediterranean islands in the Italian peninsula this frequency was 27%. On the contrary, in Burkina Faso and in Benin, both Sub-Saharan countries, a low frequency of this variant predisposing to UAN was found (1.1% and 1.2% respectively). This low frequency of Ala62Thr is associated with a low prevalence of UAN in Burkina Faso and in Benin.