Table 1.
APOL1 risk genotypes in FSGS and HIVAN samples
| Disease | Age | Gender | Race | Risk Genotype | rs136177a Genotype | Comment |
|---|---|---|---|---|---|---|
| FSGS | 28 | F | AA | wild type | A/G | |
| FSGS | 33 | M | AA | Hom G2 | A/A | |
| FSGS | 44 | M | AA | wild type | A/G | |
| FSGS | 45 | M | C | Het G2 | A/A | |
| FSGS | 49 | M | C | wild type | A/G | |
| FSGS | 56 | F | C | failed | Failed | Unable to isolate DNA |
| FSGS | 61 | M | C | wild type | A/A | |
| FSGS | 74 | F | C | wild type | A/A | |
| HIVAN | 33 | M | AA | Hom G2 | A/A | |
| HIVAN | 47 | M | AA | Het G2 | A/A |
AA, African American; C, Caucasian; Hom, homozygous; Het, heterozygous.
ars136177 is a synonymous SNP that is independent of the G1 and G2 risk variants but is contained within the amplicon used to genotype the variants. Three patients, with homozygous wild type alleles at the G1 and G2 loci, had heterogeneous genotypes at rs136177, verifying that both alleles were sequenced in these individuals.