Table 3

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

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)

Ptrend

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)

Ptrend

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)

Ptrend

0.0002

0.224


aCase 1: idiopathic infertile men with azoospermia or oligozoospermia.

bCase 2: idiopathic infertile men with normal sperm count.

cAdjustment for age, smoking status and alcohol use.

Ji et al. BMC Medicine 2012 10:49   doi:10.1186/1741-7015-10-49

Open Data