Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes , , and .

Few studies have estimated African ancestry of African Americans (AA). In sub-Saharan West African (WA) Blacks, some nonancestral alleles of iron-related genes , , and are common, whereas in European Americans (EA) the same alleles are rare. These alleles have not been used to estimate WA Black ancestry in AA. We estimated WA Black ancestry in AA () using published c.929C>G (rs7540883), c.744G>T (rs11568350), and c.713C>T (rs34242818) allele frequencies in WA Blacks, AA, and EA. We computed standard error (SE) and one-sided 95% confidence intervals (CI) for each . The combined representation of WA Blacks from The Gambia and Nigeria was 79-89%. Aggregate , , and allele frequencies in WA Blacks were 0.1025 [95% CI: 0.0835-0.1253] ( = 405), 0.0517 [0.0469-0.0569] ( = 3839), and 0.1432 [0.1202-0.1697] ( = 405), respectively. Aggregate , , and allele frequencies in AA were 0.0718 [0.0648-0.0797] ( = 2352), 0.0557 [0.0506-0.0613] ( = 3590), and 0.1224 [0.1132-0.1322] ( = 2352), respectively. Aggregate , , and allele frequencies in 4449 EA were 0.0002 [0-0.0009], 0.0003 [0.0001-0.0010], and 0.0004 [0.0001-0.0012], respectively. (SE [one-sided 95% CI]) for , , and alleles was 0.7006 (0.0818 [0.5402-1.0000]), 1.0000 (0.0752 [0.9306-1.0000]), and 0.8546 (0.0810 [0.6959-1.0000]), respectively. Mean of these is 0.8777 (87.8%). The mean proportional WA Black ancestry in AA of 87.8% using c.929C>G, c.744G>T, and c.713C>T allele frequencies is consistent with that of previous studies that used other autosomal markers and methods.