Table 1.
Polymorphisms | Populations | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
rs# | Nucleotide change | Effect | African | African-American | Brazilian | ||||||
(allele) | Cohort (n) | Frequency (%) | Reference | n | Freqency (%) | Reference | Cohort (n) | Frequency (%) | Reference | ||
rs1799853 | 430C > T (*2) | R144C | Beninese (103) | 0 | [20] | 1889 | 0–3.6 | [23, 26, 27, 29, 30, 40, 54–56] | >80% African ancestry (65) | 3.1 | [57] |
Mozambican (103) | 0 | [58] | Black (756) | 6.6 | [19, 59] | ||||||
South African (923) | 0 | [60] | Brown (816) | 8.2, 9.3 | [19, 59] | ||||||
rs1057910 | 1075A > C (*3) | I359L | Beninese (103) | 0 | [20] | 1938 | 0.3–2.0 | [23, 26, 27, 29, 30, 40, 54–56, 61] | >80% African ancestry (65) | 2.3 | [57] |
Mozambican (103) | 1.0 | [58] | Black (756) | 2.6, 3.3 | [19, 59] | ||||||
South African (213) | 0.5 | [22] | Brown (816) | 5.1, 5.9 | [19, 59] | ||||||
rs28371686 | 1080C > G (*5) | D360E | Beninese (103) | 1.8 | [20] | 1464 | 0.7–1.5 | [23, 26, 27, 29, 30, 55, 56] | >80% African ancestry (65) | 2.3 | [57] |
Mozambican (103) | 1.9 | [58] | Black (756) | 0, 0.9 | [19, 59] | ||||||
South African (213) | 0 | [22] | Brown (816) | 0.5, 0.8 | [19, 59] | ||||||
rs9332131 | 818delA (*6) | 273 frameshift | Beninese (103) | 2.7 | [20] | 1051 | 0.4–1.7 | [23, 24, 29, 40, 55, 56] | |||
Mozambican (103) | 0 | [58] | |||||||||
South African (213) | 0.2 | [22] | |||||||||
rs7900194 | 449G > A (*8) | R150H | Beninese (103) | 8.6 | [20] | 1111 | 4.7–7.2 | [23, 26, 27, 40] | Black (76) | 4.7 | [58] |
Mozambican (103) | 10.8 | [58] | Brown (118) | 0.4 | [58] | ||||||
South African (213) | 13.3 | [22] | |||||||||
rs2256871 | 752A > G (*9) | H251R | Beninese (103) | 15.7 | [20] | ||||||
South African (213) | 15.1 | [22] | |||||||||
rs28371685 | 1003A > G (*11) | R335W | Beninese (103) | 2.7 | [20] | 1541 | 1.0–4.0 | [23, 26, 27, 29, 40, 55, 56, 61] | Black (756) | 0.7, 0.9 | [19, 59] |
Mozambican (103) | 2.4 | [58] | Brown (816) | 0, 0.5 | [19, 59] | ||||||
South African (213) | 3.9 | [22] | |||||||||
rs2860905 | 3858G > A | intron 3 | YRI (111) | 26.6 | 61 | 378 | 22.0, 24.5 | [26, 61] | |||
rs7089580 | 6787A > T | intron 3 | YRI (213) | 21.2 | 61 | 612 | 19.4–23.0 | [26, 27, 61] | |||
7880T > C | intron 3 | 329 | 2.0 | [26] | |||||||
rs35511771 | 13706T > C | intron 5 | 329 | 24.0 | [26] | ||||||
46028A > G | intron 7 | South African (213) | 28.8 | [22] |
n, number of individuals.