Apolipoprotein E (APOE) genotypes were determined in 75 Mazatecan Indians a
nd 83 Mexican mestizos. APOE allele and genotype frequencies in Mazatecans
and mestizos were similar, with high frequencies of the APOE*3 allele (0.90
0 and 0.915, respectively) and the E3/3 genotype (0.813 and 0.831, respecti
vely) and an absence in both samples of the APOE*2 allele, Our data are sim
ilar to those previously described for Mexican-American and Mayan populatio
ns, which show the highest frequency worldwide of the APOE*3 allele and the
E3/3 genotype, Mazatecans and mestizos also show a decreased frequency of
the APOE*4 allele when compared to other Amerindian groups. The absence of
the APOE*2 allele has also been reported in other Amerindian groups such as
Mayans and Cayapa, whereas in Caucasians the average frequency of this all
ele is about 8%. Our data are in agreement with previous reports showing ab
sence of the APOE*2 allele in Native American groups. These findings sugges
t that the APOE*2 allele was absent in humans from northern Asia who settle
d in the Arctic and populated the American continent.