Variability of the CD36 gene in West Africa

Studying 12 selected individuals from a malaria-endemic area in West Africa, 24 variants of the CD36 gene were found, 21 of them novel ones. These included three single-nucleotide substitutions causing non, conservative amino acid exchanges E123K, T174A, and I271T as well as a three base pair (bp) insertion resulting in the addition of an asparagine residue (N232-233ins). The E123K variant was located within the putative ligand-binding domain for oxidized low density lipoprotein, while the other substitutions resided outside any of the binding sites for reaction partners mapped on CD36 so far. Twelve single-nucleotide polymorphisms (SNPs) were identified in untranslated parts of the exons and in introns. Five additional SNPs were located in the promoter region whereby -144G-->T, -53G-->T, and -2A-->G alter putative binding sites for the transcription factors purine factor (PuF), phorbol ester-responsive element AP-2, and CCAAT/enhancer-binding protein. A G-->T exchange at position -50 appears to introduce a new recognition site for PuF. Calculations of nucleotide diversity revealed extraordinarily high numbers for all parts of the gene, which may, however, to some extent be due to the selection of individuals studied. Hum Mutat 18:444-450, 2001. (C) 2001 Wiley-Liss, Inc.