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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