Table 1.
Variant distribution of human IL23A in 96 individuals of Bantu and European ancestry
| Population | RS number (if known) | Gene position | Variant ID | Variant frequency (n/48 samples) |
|
|---|---|---|---|---|---|
| Heterozygous | Homozygous | ||||
| Bantu (n = 48) | Promoter | −3009G>T | 3 | 0 | |
| Promoter | −2186C>T | 1 | 0 | ||
| Promoter | −2572A>Ga | 7 | 1 | ||
| Promoter | −2493T>G | 2 | 0 | ||
| Promoter | −2192C>Ta | 7 | 1 | ||
| Promoter | −1982C>T | 3 | 0 | ||
| rs11835054 | Promoter | −1774C>G | 10 | 0 | |
| rs73324334 | Promoter | −1752C>G | 20 | 18 | |
| Promoter | −1538G>Ta | 7 | 1 | ||
| Promoter | −1316C>T | 3 | 0 | ||
| Promoter | −1263C>T | 1 | 0 | ||
| rs11465743 | Promoter | −914C>T | 3 | 0 | |
| Promoter | −854A>G | 1 | 0 | ||
| rs59094153 | Promoter | −204A>G | 3 | 0 | |
| 5′UTR/exon 1 | −42G>A | 1 | 0 | ||
| rs11465744 | 5′UTR/exon 1 | −35G>A | 2 | 0 | |
| Exon 4 | 955A>G (Pro155Pro) | 2 | 0 | ||
| Downstream | 1792T>C | 3 | 0 | ||
| rs11575253 | Downstream | 1945G>A | 1 | 0 | |
| Downstream | 2136G>A | 3 | 0 | ||
| rs7977692 | Downstream | 2421A>G | 29 | 7 | |
| Downstream | 3010T>G | 1 | 0 | ||
| Downstream | 3176C>T | 1 | 0 | ||
| European (n = 48) | Promoter | −2799C>T | 1 | 0 | |
| Promoter | −2730T>C | 1 | 0 | ||
| rs73131077 | Promoter | −2142G>A | 1 | 0 | |
| Promoter | −1956G>C | 2 | 0 | ||
| rs73324334 | Promoter | −1752C>Gb | 5 | 0 | |
| Promoter | −1527T>C | 1 | 0 | ||
| Promoter | −1517T>C | 1 | 0 | ||
| 5′UTR/Exon 1 | −138G>A | 1 | 0 | ||
| rs11171806 | Exon 3 | 703G>A (Ser106Ser)b | 5 | 0 | |
| rs11575254 | Downstream | 1863C>T | 1 | 0 | |
| rs11575248 | Downstream | 3162G>Tb | 5 | 0 | |
Variants within a 6357-bp IL23A region were identified in both Bantu and Europeans for 48 individuals each, using direct Sanger sequencing (primer information and amplification conditions for the 10 overlapping fragments available upon request).
aVariants in complete LD within the Bantu population.
bVariants in complete LD within the European population.