Characteristics of 52 participants with SCD in allele-specific expression study
| . | Control (n = 23) . | Test (n = 29) . |
|---|---|---|
| PKLR exon 11 rs1052176 | A/C | A/C |
| PKLR intron 2 risk haplotype* | Absent | Heterozygous |
| Sex | ||
| Male | 10 | 14 |
| Female | 13 | 15 |
| HBB genotype | ||
| SS | 21 | 25 |
| SC | 1 | 4 |
| Sβ thalassemia | 1 | 0 |
| Mean age, y | 40.4 | 41.6 |
| Protocol | ||
| 01-H-0088 | 4 | 8 |
| 04-H-161 | 10 | 9 |
| 18-H-0146 | 9 | 12 |
| . | Control (n = 23) . | Test (n = 29) . |
|---|---|---|
| PKLR exon 11 rs1052176 | A/C | A/C |
| PKLR intron 2 risk haplotype* | Absent | Heterozygous |
| Sex | ||
| Male | 10 | 14 |
| Female | 13 | 15 |
| HBB genotype | ||
| SS | 21 | 25 |
| SC | 1 | 4 |
| Sβ thalassemia | 1 | 0 |
| Mean age, y | 40.4 | 41.6 |
| Protocol | ||
| 01-H-0088 | 4 | 8 |
| 04-H-161 | 10 | 9 |
| 18-H-0146 | 9 | 12 |
A/C, adenine/cytosine.
PKLR intron 2 risk haplotype was defined as the LD block containing rs8177964 and rs8177970 in intron 2.