Skip to main content

Table 3 Genotype frequencies of the four SNPs in MMR genes in patients and controls and their associations with male infertility risk

From: Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

SNP ID Genotype Controls (n = 480) Case 1a(n = 524) Case 2b (n = 768)
   N (%) N (%) OR (95% CI)c N (%) OR (95% CI)c
MLH1       
rs4647269 CC 431 (90.5) 444 (85.5) Reference 665 (86.6) Reference
  CT 45 (9.4) 72 (13.9) 1.56 (1.05 to 2.32) 94 (12.2) 1.34 (0.92 to 1.96)
  TT 0 (0.0) 3 (0.6) NA 4 (0.5) NA
  CT/TT 45 (9.4) 75 (14.4) 1.63 (1.10 to 2.41) 98 (12.7) 1.39 (0.93 to 2.01)
P trend     0.009   0.044
PMS2       
rs1059060 GG 393 (82.6) 387 (74.6) Reference 534 (69.5) Reference
  GA 79 (16.6) 112 (21.6) 1.43 (1.03 to 1.96) 197 (25.6) 1.82 (1.36 to 2.44)
  AA 4 (0.8) 20 (3.8) 5.03 (1.70 to 14.84) 31 (4.0) 5.65 (1.98 to 16.15)
  GA/AA 83 (17.4) 132 (25.4) 1.60 (1.17 to 2.18) 228 (29.6) 1.83 (1.37 to 2.43)
P trend     0.0003   < 0.0001
MSH5       
rs2075789 GG 401 (85.7) 392 (76.4) Reference 626 (83.2) Reference
  GA 58 (12.4) 99 (19.3) 1.73 (1.22 to 2.47) 106 (14.1) 1.16 (0.82 to 1.63)
  AA 9 (1.9) 22 (4.2) 2.48 (1.13 to 5.46) 20 (2.6) 1.41 (0.63 to 3.12)
  GA/AA 67 (14.3) 121 (23.6) 1.83 (1.32 to 2.55) 126 (19.7) 1.19 (0.86 to 1.64)
P trend     0.0002   0.224
  1. aCase 1: idiopathic infertile men with azoospermia or oligozoospermia.
  2. bCase 2: idiopathic infertile men with normal sperm count.
  3. cAdjustment for age, smoking status and alcohol use.