Table 2 Rare pathogenic missense mutations in exome data from various cohorts of infertile men and fertile control cohorts.

From: A de novo paradigm for male infertility

Gene

Missense Z-score

Total infertile men (n = 2,506)

Fertile Dutch men (n = 5,784)

Burden test infertile vs. fertile men

 
    

p value

Adjusted p value

RBM5

4.17

7

0

0.0002

0.03

HUWE1

8.87

6

0

0.001

0.12

REN

0.80

7

1

0.001

0.21

HIST1H1D

−8.06

10

5

0.004

0.59

ABLIM1

1.62

6

1

0.004

0.60

FUS

2.21

4

0

0.01

1

CNOT4

3.49

5

1

0.01

1

CDC5L

2.78

6

2

0.01

1

ZNF629

3.86

6

2

0.01

1

PCDHB1

1.02

11

8

0.01

1

AK3

−1.97

10

7

0.02

1

  1. Genes affected by a rare missense DNM were investigated in additional cohorts of infertile patients and a cohort of verified fertile men to identify other individuals carrying rare missense mutations. A burden test was used to compare the total number of predicted pathogenic missense mutations observed in the infertile vs. fertile men. A two-tailed Fisher’s Exact test was performed with and without Bonferroni correction applied to adjust p values for multiple testing of all 152 genes of interest. (Also see Supplementary Data 5).
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