Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

Abstract DNA samples of 2303 individuals from nine different population groups were screened for variant −175g→t in the promoter region of the low-density lipoprotein receptor (LDLR) gene. The −175g→t variant detected at carrier frequencies of 3–10% in different African population groups was absent in the Caucasian and Asian (Chinese) individuals studied. In contrast to previous findings in Black South Africans where this polymorphism predominated in patients with familial hypercholesterolaemia (FH), it occurred at a significantly lower frequency in hypercholesterolaemics from the recently admixed Coloured population of South Africa compared with population-matched controls ( P