Table 2 The basic information and HWE testing of each estrogens metabolizing enzymes gene polymorphisms
Gene | rs number | Chromosome position | Domain | Alleles | Amino acid change | Metabolism estrogens | Test for HWE (p) |
|---|---|---|---|---|---|---|---|
CYP19A1 | rs700519 | Chr15: 51507968 | exon7 | G/A | Arg264Cys | E1(E2) | 0.392 |
CYP1A1 | rs1048943 | Chr15: 75012985 | exon7 | T/C | Ile462Val | 2-OHE1(E2) | 0.241 |
CYP1A1 | rs4646903 | Chr15: 75011641 | 3′-flanking | A/G | / | 2-OHE1(E2) | 1.000 |
CYP1B1 | rs1056827 | Chr2: 38302177 | exon2 | C/A | Ala119Ser | 4-OHE1(E2) | 0.602 |
CYP1B1 | rs1056836 | Chr2: 38298203 | exon3 | G/C | Val432Leu | 4-OHE1(E2) | 0.101 |
HSD17B1 | rs605059 | Chr17: 40706906 | exon6 | G/A | Gly313Ser | E2 | 0.106 |
COMT | rs4680 | Chr22: 19951271 | exon4 | G/A | Val158Met | 2 (4)-MeOE1(2) | 1.000 |
SULT1A1 | rs1042028 | Chr16: 28617514 | exon7 | C/T | Arg213His | Sulfated metabolites | 0.144 |
UGT2B7 | rs7439366 | Chr4: 69964338 | exon2 | C/T | Tyr268His | Glucuronide metabolites | 0.086 |
ZNF365 | rs10822013 | Chr10: 64251977 | intron4 | C/T | / | / | 0.478 |
FGFR2 | rs2981579 | Chr10: 123337335 | intron2 | G/A | / | / | 0.665 |
CASC16 | rs3803662 | Chr16: 52586341 | exon4 | G/A | / | / | 0.360 |
RAD51B | rs3784099 | Chr14: 68749927 | intron7 | G/A | / | / | 0.456 |
MAP3K1 | rs889312 | Chr5: 56031884 | / | A/C | / | / | 0.776 |
HCN1 | rs981782 | Chr5: 45285616 | intron6 | A/C | / | / | 0.818 |