. A comprehensive genetic association study of Alzheimer disease in African Americans. Arch Neurol. 2011 Dec;68(12):1569-79. PubMed.

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  1. It is very difficult to carry out a genetic analysis of African-Americans for locus discovery purposes. This population is genetically about 30 percent European in ancestry (but very variable), and the 70 percent African ancestry is far more variable than the European (the stock saying is that there is more genetic variability in an African village than in all of Europe). Additionally, this population has a significant Native American ancestry, too. In this context, looking for the small and subtle genetic differences between Alzheimer's cases and controls is challenging, especially since, for historical reasons, the participation of this population in research is woefully small and sample sizes are therefore limited.

    Given these practical difficulties, the MIRAGE group's finding that it is likely that the genetic architecture of AD in African-Americans broadly resembles that in Europeans is encouraging, though not surprising, given the 30 percent genetic contribution of Europeans.

    Genomewide association studies of AD in pure African and in Asian populations would be immensely valuable in their own right and because they would help in the precise delineation of the pathogenic variant at each of the loci we now know for Europeans.

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Mutations

  1. APOE c.43+520G>A (rs769450)