Table 1.
Haplotype frequencies at the APOL1 G1 and G2 loci in the UK Biobank cohort (n = 7462).
| Genotype name | Haplotypes G1 locus/G2 locus | Variant copy number | G1 copy number | G2 copy number | Number in cohort (% of total) females/males | Mean age (median, interquartile range) | |
|---|---|---|---|---|---|---|---|
| G0/G0 | AT AT |
TTATAA TTATAA |
0 | 0 | 0 | 2853 (38.2%) 1638/1215 | 51.3 (50, 45–57) |
| G0/G1 | AT GG |
TTATAA TTATAA |
1 | 1 | 0 | 2273 (30.5%) 1309/964 | 52.2 (51, 46–58) |
| G0/G2 | AT AT |
TTATAA 6 bp deletion |
1 | 0 | 1 | 1219 (16.3%) 701/518 | 52.0 (51, 45–58) |
| G1/G1 | GG GG |
TTATAA TTATAA |
2 | 2 | 0 | 644 (8.6%) 379/265 | 52.3 (51, 46–58) |
| G1/G2 | GG AT |
TTATAA 6 bp deletion |
2 | 1 | 1 | 320 (4.3%) 181/139 | 52.0 (51, 45–58) |
| G2/G2 | AT AT |
6 bp deletion 6 bp deletion |
2 | 0 | 2 | 153 (2.1%) 100/53 | 51.6 (50, 45–57) |
Genotypes with G1 and G2 on the same haplotype are theoretically possible but have not been observed.