Research Article
[Retracted] An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women
Table 3
EMX2 variations detected both in MRKH patients and controls.
| | Exon/intron | dbSNP | Position | GERP score | Genotype | No. (%) in patients | No. (%) in controls |
| | Exon 1 | rs12777466 | c.-674G > A† | 5.07 | AA | 2 (5) | 14 (1) | | AG | 16 (40) | 37 (26.4) | | GG | 22 (55) | 89 (72.6) | | Intron 1 | rs8192644 | c.406 + 113G > A | 2.04 | AA | 0 (0) | 1 (0.7) | | GA | 4 (10) | 9 (7.5) | | GG | 36 (90) | 130 (91.8) | | Intron 1 | rs142080828 | c.407–104G > A | 1.23 | GA | 1 (2.5) | 3 (2.1) | | GG | 39 (97.5) | 137 (97.9) | | Intron 2 | rs202171958 | c.591+6T > C | −6.74 | TC | 1 (2.5) | 1 (0.7) | | TT | 39 (97.5) | 139 (99.3) | | Exon 3z | rs66710107 | c.317_320del | — | del/del | 40 (100) | 40 (100) | | AGAG | wt/wt | 0 (0) | | Exon 3 | rs187010704 | c.925C > T | 4.88 | CT | 1 (2.5) | 1 (0.7) | | CC | 39 (97.5) | 139 (99.3) | | Exon 3 | rs41284394 | c.1201T > C | 5.79 | CC | 2 (5) | 3 (2.1) | | CT | 0 (0) | 5 (3.6) | | TT | 38 (95) | 132 (94.3) |
|
|
