Table 3. Genetic variants in the AKR1C3 and AKR1C4 genes detected by sequencing analysis.
| Gene | Gene variant | rs number | Location | Allele | Cases % (N) | Control % (N) | P-value |
|---|---|---|---|---|---|---|---|
| AKR1C3 | c.1-138T>C | rs3763676 | 5′UTR | A/A | 50 (55) | 45a | P<0.05 |
| A/G | 40 (44) | 42 | |||||
| G/G | 10 (11) | 13 | |||||
| c.15C>G (p.(His5Gln)) | rs12529 | Exon 1 | C/C | 38 (42) | 33a | P<0.05 | |
| C/G | 41 (46) | 54 | |||||
| G/G | 21 (23) | 13 | |||||
| c.90G>A | rs7741 | Exon 2 | G/G | 52 (58) | 44a | P<0.05 | |
| G/A | 38 (42) | 43 | |||||
| A/A | 10 (12) | 13 | |||||
| c.230A>G (p.(Glu77Gly)) | rs11551177 | Exon 2 | A/A | 86 (95) | 86(81)b | ||
| A/G | 14 (16) | 14(13) | |||||
| c.311G>A | rs12387 | Exon 3 | A/A | 72 (79) | 73a | ||
| A/G | 25 (28) | 22 | |||||
| G/G | 3 (3) | 5 | |||||
| c.643G>A (p.(Ala215Thr)) | Exon 6 | G/A | 1 | 0b | |||
| AKR1C4 | c.435C>G (p.(Ser145Cys)) | rs3829125 | Exon 4 | C/C | 20 (22) | 25a | |
| G/C | 78 (78) | 73 | |||||
| G/G | 2 (2) | (2) | |||||
| c.447+9T>G | rs201441444 | Intron 4 | T/G | 1 | 0b |
Bold letters show a novel mutation found in the AKR1C3 gene.
a
From the NCBI database (www.ncbi.nlm.nih.gov), HapMap-CEU.
b
From sequencing of 95 controls.