Association of PKLR variants with annualized hospitalization rate in KCH and SIT sickle cell anemia cohorts
| SNP ID . | Coordinates (chr:position; hg19) . | Location in PKLR gene . | A1 (minor) . | A2 (major) . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| HbSS genotype KCH cohort (n = 242) . | HbSS or HbSβ0 thalassemia SIT cohort (n = 977) . | Weighted Fisher’s meta-analysis . | |||||||||
| Frequency . | β . | P . | Frequency . | β . | P . | Combined P . | |||||
| rs2071053 | 1:155265177 | Intron 4 | A | G | 0.37 | −0.0883 | .00097 | 0.42 | −0.0867 | .08140 | .0009918 |
| rs8177970 | 1:155265661 | Intron 2 | C | T | 0.16 | 0.1299 | .00036 | 0.13 | 0.0280 | .68660 | .0042704 |
| rs116244351 | 1:155266935 | Intron 2 | A | G | 0.16 | 0.1247 | .00064 | 0.13 | 0.0280 | .68660 | .0068498 |
| rs114455416 | 1:155267389 | Intron 2 | A | G | 0.16 | 0.1247 | .00064 | 0.13 | 0.0281 | .68600 | .0068430 |
| rs12741350 | 1:155268425 | Intron 2 | C | T | 0.38 | −0.0864 | .00115 | 0.42 | −0.0969 | .05160 | .0007171 |
| rs3020781 | 1:155269776 | Intron 2 | A | G | 0.38 | −0.0864 | .00115 | 0.43 | −0.0973 | .05080 | .0007057 |
| rs8177964 | 1:155269780 | Intron 2 | A | G | 0.16 | 0.1241 | .00071 | 0.12 | 0.0486 | .48950 | .0050984 |
| SNP ID . | Coordinates (chr:position; hg19) . | Location in PKLR gene . | A1 (minor) . | A2 (major) . | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| HbSS genotype KCH cohort (n = 242) . | HbSS or HbSβ0 thalassemia SIT cohort (n = 977) . | Weighted Fisher’s meta-analysis . | |||||||||
| Frequency . | β . | P . | Frequency . | β . | P . | Combined P . | |||||
| rs2071053 | 1:155265177 | Intron 4 | A | G | 0.37 | −0.0883 | .00097 | 0.42 | −0.0867 | .08140 | .0009918 |
| rs8177970 | 1:155265661 | Intron 2 | C | T | 0.16 | 0.1299 | .00036 | 0.13 | 0.0280 | .68660 | .0042704 |
| rs116244351 | 1:155266935 | Intron 2 | A | G | 0.16 | 0.1247 | .00064 | 0.13 | 0.0280 | .68660 | .0068498 |
| rs114455416 | 1:155267389 | Intron 2 | A | G | 0.16 | 0.1247 | .00064 | 0.13 | 0.0281 | .68600 | .0068430 |
| rs12741350 | 1:155268425 | Intron 2 | C | T | 0.38 | −0.0864 | .00115 | 0.42 | −0.0969 | .05160 | .0007171 |
| rs3020781 | 1:155269776 | Intron 2 | A | G | 0.38 | −0.0864 | .00115 | 0.43 | −0.0973 | .05080 | .0007057 |
| rs8177964 | 1:155269780 | Intron 2 | A | G | 0.16 | 0.1241 | .00071 | 0.12 | 0.0486 | .48950 | .0050984 |
chr, chromosome; SNP, single-nucleotide polymorphism.