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Table 3 Comparison of allele and genotype frequencies of the rare variants between patients with OZ or AZ and controls with NZ

From: Is BRD7 associated with spermatogenesis impairment and male infertility in humans? A case-control study in a Han Chinese population

Rs

Allele/Genotype

Patients

Controls

P-values

Total (n = 315)

OZ (n = 173)

AZ1 + AZ2 (n = 142)

AZ1 (n = 52)

AZ2 (n = 90)

NZ (n = 995)

[1]

[2]

[3]

[4]

[5]

rs116422109

T

625 (99.2)

343 (99.1)

282 (99.3)

102 (98.1)

180 (100)

1977 (99.3)

0.782

0.720

1.000

0.169

0.617

Ca

5 (0.8)

3 (0.9)

2 (0.7)

2 (1.9)

0 (0.0)

13 (0.7)

     

TT

310 (98.4)

170 (98.3)

140 (98.6)

50 (96.2)

90 (100)

982 (98.7)

0.781

0.719

1.000

0.168

0.616

TC

5 (1.6)

3 (1.7)

2 (1.4)

2 (3.8)

0 (0.0)

13 (1.3)

     

rs202057136

A

627 (99.5)

344 (99.4)

283 (99.6)

104 (100)

179 (99.4)

1981 (99.5)

1.000

0.672

1.000

1.000

0.580

Ga

3 (0.5)

2 (0.6)

1 (0.4)

0 (0.0)

1 (0.6)

9(0.5)

     

AA

312 (99.0)

171 (98.8)

141 (99.3)

52 (100)

89 (98.9)

986 (99.1)

1.000

0.671

1.000

1.000

0.581

AG

3 (1.0)

2 (1.2)

1 (0.7)

0 (0.0)

1 (1.1)

9 (0.9)

     

rs115302634

A

627 (99.5)

345 (99.7)

282 (99.3)

103 (99.0)

179 (99.4)

1982 (99.6)

0.732

1.000

0.361

0.368

0.542

Ga

3 (0.5)

1 (0.3)

2 (0.7)

1 (1.0)

1 (0.6)

8 (0.4)

     

AA

312 (99.0)

172 (99.4)

140 (98.6)

51 (98.1)

89 (98.9)

987 (99.2)

0.732

1.000

0.361

0.369

0.543

AG

3 (1.0)

1 (0.6)

2 (1.4)

1 (1.9)

1 (1.1)

8 (0.8)

     

rs188183810

C

628 (99.7)

345 (99.7)

283 (99.6)

104 (100)

179 (99.4)

1988 (99.9)

0.246

0.382

0.330

1.000

0.229

Ta

2 (0.3)

1 (0.3)

1 (0.4)

0 (0.0)

1 (0.6)

2 (0.1)

     

CC

313 (99.4)

172 (99.4)

141 (99.3)

52 (100)

89 (98.9)

993 (99.8)

0.246

0.382

0.330

1.000

0.229

CT

2 (0.6)

1 (0.6)

1 (0.7)

0 (0.0)

1 (1.1)

2 (0.2)

     
  1. P-values were calculated using Fisher’s exact test
  2. OZ oligozoospermia, AZ1 azoospermia with spermatid or spermatocyte arrest, AZ2 azoospermia with hypospermatogenesis, spermatogonia arrest or Sertoli cell-only syndrome, NZ normozoospermia. Controls vs. [1] Total patients, [2] OZ, [3] AZ1 + AZ2, [4] AZ1, [5] AZ2. aThe variants were identified in the heterozygous state in the subjects