Table 3.
Genotype frequencies of DNMTs genetic variants among the cases and controls and their association with male infertility.
| SNPs | Genotype | Control (n = 410)a | Subgroup I (n = 122)b,f | Subgroup II (n = 340)c,f | Subgroup III (n = 311)d,f | Subgroup IV (n = 611)e,f | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n (%) | n (%) | P g,h | OR (95% CI)g,i | n (%) | P g,h | OR (95% CI)g,i | n (%) | P g,h | OR (95% CI)g,i | n (%) | P g,h | OR (95% CI)g,i | ||
| rs4804490 | CC | 144 (35.3) | 42 (34.7) | 1.00 (reference) | 108 (31.9) | 1.00 (reference) | 102 (32.9) | 1.00 (reference) | 193 (31.7) | 1.00 (reference) | ||||
| CA | 166 (40.7) | 55 (45.4) | 0.525 | 1.16 (0.73–1.84) | 170 (50.1) | 0.037 | 1.43 (1.02–1.99) | 151 (48.7) | 0.084 | 1.35 (0.96–1.90) | 309 (50.7) | 0.023 | 1.40 (1.05–1.86) | |
| AA | 98 (24.0) | 24 (19.8) | 0.629 | 0.87 (0.49–1.54) | 61 (18.0) | 0.606 | 0.90 (0.59–1.36) | 57 (18.4) | 0.624 | 0.90 (0.59–1.38) | 107 (17.6) | 0.287 | 0.83 (0.58–1.18) | |
| C-allele carriers | 310 (76.0) | 97 (80.2) | 1.00 (reference) | 278 (82.0) | 1.00 (reference) | 253 (81.6) | 1.00 (reference) | 502 (82.4) | 1.00 (reference) | |||||
| AA | 98 (24.0) | 24 (19.8) | 0.357 | 0.79 (0.48–1.31) | 61 (18.0) | 0.066 | 0.71 (0.50–1.02) | 57 (18.4) | 0.099 | 0.73 (0.51–1.06) | 107 (17.6) | 0.014 | 0.68 (0.50–0.92) | |
| rs1550117 | GG | 263 (64.8) | 82 (67.2) | 1.00 (reference) | 215 (64.2) | 1.00 (reference) | 193 (63.1) | 1.00 (reference) | 381 (63.3) | 1.00 (reference) | ||||
| GA | 122 (30.0) | 34 (27.9) | 0.600 | 0.89 (0.56–1.40) | 104 (31.0) | 0.964 | 1.01 (0.73–1.39) | 100 (32.7) | 0.597 | 1.09 (0.79–1.52) | 196 (32.6) | 0.645 | 1.07 (0.81–1.41) | |
| AA | 21 (5.2) | 6 (4.9) | 0.842 | 0.91 (0.35–2.35) | 16 (4.8) | 0.806 | 0.92 (0.46–1.83) | 13 (4.2) | 0.618 | 0.83 (0.40–1.73) | 25 (4.2) | 0.488 | 0.81 (0.44–1.48) | |
| G-allele carriers | 385 (94.8) | 116 (95.1) | 1.00 (reference) | 319 (93.2) | 1.00 (reference) | 293 (95.8) | 1.00 (reference) | 577 (95.8) | 1.00 (reference) | |||||
| AA | 21 (5.2) | 6 (4.9) | 0.911 | 0.95 (0.37–2.42) | 16 (4.8) | 0.770 | 0.90 (0.46–1.78) | 13 (4.2) | 0.527 | 0.79 (0.38–1.63) | 25 (4.2) | 0.453 | 0.79 (0.43–1.45) | |
| rs2424909 | CC | 344 (86.4) | 102 (85.0) | 1.00 (reference) | 290 (86.6) | 1.00 (reference) | 264 (86.3) | 1.00 (reference) | 509 (84.6) | 1.00 (reference) | ||||
| CT | 46 (11.6) | 18 (15.0) | 0.383 | 1.30 (0.72–2.36) | 43 (12.8) | 0.792 | 1.06 (0.68–1.67) | 40 (13.1) | 0.703 | 1.09 (0.69–1.73) | 90 (15.0) | 0.220 | 1.27 (0.87–1.87) | |
| TT | 8 (2.0) | 0 (0.0) | 0.980 | 1.00 (0.82–1.23) | 2 (0.6) | 0.145 | 0.31 (0.06–1.50) | 2 (0.7) | 0.185 | 0.35 (0.07–1.66) | 3 (0.5) | 0.046 | 0.26 (0.07–0.98) | |
| C-allele carriers | 390 (98.0) | 120 (100.0) | 1.00 (reference) | 333 (99.4) | 1.00 (reference) | 304 (99.3) | 1.00 (reference) | 599 (99.5) | 1.00 (reference) | |||||
| TT | 8 (2.0) | 0 (0.0) | 0.984 | 1.00 (0.82–1.23) | 2 (0.6) | 0.138 | 0.31 (0.06–1.47) | 2 (0.7) | 0.175 | 0.34 (0.07–1.62) | 3 (0.5) | 0.040 | 0.25 (0.06–0.94) | |
| rs7354779 | TT | 384 (93.7) | 110 (91.7) | 1.00 (reference) | 311 (92.6) | 1.00 (reference) | 282 (91.9) | 1.00 (reference) | 567 (93.9) | 1.00 (reference) | ||||
| TC | 24 (5.9) | 9 (7.5) | 0.529 | 1.29 (0.58–2.87) | 24 (7.1) | 0.443 | 1.26 (0.70–2.27) | 24 (7.8) | 0.273 | 1.39 (0.77–2.52) | 36 (6.0) | 0.862 | 1.05 (0.61–1.79) | |
| CC | 2 (0.5) | 1 (0.8) | 0.640 | 1.79 (0.16–20.28) | 1 (0.3) | 0.632 | 0.55 (0.05–6.52) | 1 (0.3) | 0.701 | 0.61 (0.05–7.40) | 1 (0.2) | 0.324 | 0.29 (0.02–3.44) | |
| T-allele carriers | 408 (99.5) | 119 (99.2) | 1.00 (reference) | 335 (99.7) | 1.00 (reference) | 306 (99.7) | 1.00 (reference) | 603 (99.8) | 1.00 (reference) | |||||
| CC | 2 (0.5) | 1 (0.8) | 0.675 | 1.68 (0.15–19.13) | 1 (0.3) | 0.626 | 0.54 (0.04–6.46) | 1 (0.3) | 0.690 | 0.60 (0.05–7.27) | 1 (0.2) | 0.325 | 0.29 (0.02–3.45) | |
SNPs, single-nucleotide polymorphisms. OR, odds ratios; CI, confidence interval.
aProven fertility men with semen volume ≥ 2 ml, sperm concentration ≥20 × 106/ml, sperm number per ejaculum ≥40 × 106/ml and sperm motility ≥50% motile sperm.
bIdiopathic infertile men with semen volume, 2 ml.
cIdiopathic infertile men with sperm concentration, 20 × 106/ml.
dIdiopathic infertile men with sperm number per ejaculum, 40 × 106/ml.
eIdiopathic infertile men with sperm motility, 50% motile sperm.
fThe semen parameter categories were not mutually exclusive; a subject may contribute data to more than one category.
gAdjusted for age, BMI, smoking status and drinking status.
hTwo-sided χ2 test for genotype distributions between cases and controls.
IORs were obtained from multivariate logistic regression analysis.