Table 2.
Frequencies of individual polymorphisms of the GR and GLCCI1 gene
| Polymorphisms | Nucleotide change | Wildtype | Heterozygous carrier | Homozygous carrier | |
|---|---|---|---|---|---|
| BclI | rs41423247 | C→G | 52 (38) | 70 (51.1) | 15 (10.9) |
| 9β | rs6198 | A→G | 89 (64.5) | 42 (30.4) | 7 (5.1) |
| ER22/23EK | rs6189 and rs6190 | G→A and G→A | 129 (93.5) | 8 (5.8) | 1 (0.7) |
| N363S | rs6195 | A→G | 128 (94.1) | 8 (5.9) | 0 (0) |
| GLCCI1 | rs37973 | C→T | 53 (39) | 63 (46.3) | 20 (14.7) |
Genotyping of BclI failed in one patient; in two patients each, the N363S and GLCCI1 genotype could not be determined. The BclI polymorphism is located in an intron. The 9β SNP is located in an ATTTA motif (ATTTA → GTTTA) and is associated with increased stability of the GR-β mRNA and a reduced transrepressive capacity in vitro. The nucleotide change in the ER22/23EK variant results in a different amino acid (glutamic acid–arginine → glutamic acid–lysine) and has been related to increased expression of the transcriptionally less active GR-A isoform. Similarly, the A to G nucleotide change in the N363S polymorphism alters asparagine into serine. In vitro assays demonstrated reduced luciferase reporter activity in cells transfected with a rs37973 reporter construct. Data are presented as N (%)