Table 2.
Polymorphisms | Populations | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
rs# | Nucleotide change | Effect | African | African-American | Brazilian | ||||||
Cohort (n) | Frequency (%) | Reference | n | Frequency (%) | Reference | Cohort (n) | Frequency (%) | Reference | |||
rs9923231 | 3673G > A | 5'UTR | Mozambican (143) | 3.5 | [9] | 1754 | 8.8–22.0 | [23, 26, 27, 31, 33, 40, 42, 56, 61] | Black (756) | 22.0, 23.8 | [19, 59] |
Angolan (73) | 2.7 | [9] | Brown (816) | 30.6, 33.0 | [19, 59] | ||||||
Black, 4 continents (368) | 10.1 | [17] | >80% African ancestry (68) | 21.1 | [9] | ||||||
rs9934438 | 6484C > T | intron 1 | South African (993) | 4.0 | [60] | 1267 | 8.0–12.0 | [26, 29, 31, 40, 42, 49, 55, 61] | |||
Beninese (51) | 2.0 | [62] | |||||||||
Black, 4 continents (368) | 10.2 | [17] | |||||||||
rs8050894 | 6853G > C | intron 2 | Mozambican (143) | 27.3 | [9] | 849 | 20.4–30.0 | [26, 29–32] | Black (756) | 35.7, 36.0 | [19, 59] |
Black, 4 continents (368) | 26.4 | [17] | Brown (816) | 38.0, 38.6 | [19, 59] | ||||||
Angolan (73) | 19.2 | [9] | >80% African ancestry (68) | 34.4 | [9] | ||||||
rs2884737 | 5808T > G | intron 1 | Mozambican (143) | 1.1 | [9] | 698 | 3.5–7.1 | [24, 33, 55, 61] | Black (756) | 10.0, 12.8 | [19, 59] |
Angolan (73) | 0 | [9] | Brown (816) | 13.5, 20.0 | [19, 59] | ||||||
>80% African ancestry (68) | 10.7 | [9] | |||||||||
rs7294 | 9041G > A | 3'UTR | South African (991) | 40.0 | [60] | 973 | 44.0–52.3 | [24, 26, 29, 32, 55, 61] | Black (756) | 37.9, 41.0 | [19, 59] |
Mozambican (143) | 38.9 | [9] | Brown (816) | 37.2, 39.0 | [19, 59] | ||||||
Angolan (73) | 40.4 | [9] | >80% African ancestry (68) | 46.9 | [9] | ||||||
rs17886199 | 6915C > T | intron 2 | 258 | 3.7 | [33] | ||||||
rs59502288 | 1989_1990insTGGATGA | 5'UTR | 329 | 42.0 | [26] | ||||||
rs62057090 | 5374C > G | 5'UTR | 329 | 29.0 | [26] | ||||||
rs61162043 | 6051G > A | 5'UTR | 570 | 47.0, 48.3 | [26, 27] | ||||||
rs2359612 | 7566C > T | intron 2 | South African (974) | 24.0 | [60] | 804 | 15.9–23.3 | [26, 29, 32, 40, 61] | |||
rs7200749 | 8773G > A | L120L | South African (113) | 25.7 | [22] | 353 | 18.2–26.5 | [32, 33, 61] | |||
rs72547529 | 6557C > T | V66M | South African (110) | 0.4 | [22] | 509 | 0–1.6 | [23, 40, 55] |
n, number of individuals.