Table 2.
SLCO1B1 and ABCB1 genotypes in 20 children with heterozygous familial hypercholesterolaemia (HeFH) and in 12 paediatric cardiac transplant recipients
| Gene | Region | Position | Allele | Patients with HeFH n (%) | Transplant recipients n (%) | Genotype | Patients with HeFH n (%) | Transplant recipients n (%) |
|---|---|---|---|---|---|---|---|---|
| SLCO1B1 | Promoter | −11187 | G | 38 (95%) | 24 (100%) | GG | 18 (90%) | 12 (100%) |
| A | 2 (5%) | 0 (0%) | GA | 2 (10%) | 0 (0%) | |||
| SLCO1B1 | Exon 5 | 521 | T | 34 (85%) | 21 (88%) | TT | 14 (70%) | 9 (75%) |
| C | 6 (15%) | 3 (13%) | TC | 6 (30%) | 3 (25%) | |||
| ABCB1 | Exon 21 | 2677 | G | 17 (43%) | 15 (63%) | GG | 4 (20%) | 5 (42%) |
| T | 21 (53%) | 8 (33%) | GT | 8 (40%) | 5 (42%) | |||
| A | 2 (5%) | 1 (4%) | TT | 6 (30%) | 1 (8%) | |||
| GA | 1 (5%) | 0 (0%) | ||||||
| TA | 1 (5%) | 1 (8%) | ||||||
| ABCB1 | Exon 26 | 3435 | C | 20 (50%) | 13 (54%) | CC | 5 (25%) | 3 (25%) |
| T | 20 (50%) | 11 (46%) | CT | 10 (50%) | 7 (58%) | |||
| TT | 5 (25%) | 2 (17%) |
Positions of SNPs correspond to their positions in the cDNA (exonic SNPs) or genomic sequence (promoter SNP) with the first base of the ATG first codon set to 1.