Table 1 Genetic variants with a P-value < 1E−07 accordingly with specific spermatogenic failure subtypes in the transethnic meta-analysis between European and Asian cohorts

From: Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome

      

Iberian

German

European combined

Chinese

Meta-analysis

Variant ID

Position (GRCh38)

Gene

Status

Phen

Alt/ref

MAF(case/control)

P

OR [95% CI]

MAF(case/control)

P

OR [95% CI]

MAF(case/control)

P

OR [95% CI]

MAF(case/control)

P

OR [95% CI]

P

OR [95% CI]

rs7873478

chr9:858429

DMRT1

Novel

SPGF

C/T

0.51/0.48

5.22E−02

1.16 [1.00-1.35]

0.56/0.49

1.63E−05

1.37 [1.19–1.58]

0.54/0.48

8.30E−06

1.27 [1.14–1.40]

0.24/0.21

9.14E−03

1.20 [1.06–1.34]

2.92E−07

1.24 [1.14–1.35]

rs13206743

chr6:52152310

IL17A

Previously reported

NOA

C/T

0.43/0.41

7.73E−02

1.16 [0.98-1.36]

0.49/0.43

1.03E−02

1.26 [1.06–1.50]

0.46/0.42

2.32E−03

1.20 [1.07–1.36]

0.08/0.04

1.11E−06

1.68 [1.47–1.89]

4.19E−07

1.31 [1.18–1.45]

rs34915133

chr6:32623645

HLA-DQA1 HLA-DRB1

Replicated region

NOA

G/A

0.15/0.11

2.14E−02

1.32 [1.04-1.67]

0.14/0.11

7.90E−02

1.28 [0.97–1.68]

0.14/0.11

3.88E−03

1.30 [1.09–1.56]

0.16/0.11

3.19E−05

1.42 [1.26–1.59]

5.35E−07

1.37 [1.21–1.54]

rs34915133

chr6:32623645

HLA-DQA1 HLA-DRB1

Replicated region

SCO

G/A

0.23/0.11

2.83E−06

2.47 [1.69-3.61]

0.17/0.11

1.18E−02

1.67 [1.12–2.48]

0.20/0.11

2.95E−07

2.05 [1.56–2.70]

0.16/0.11

3.19E−05

1.42 [1.26–1.59]

5.25E−10

1.57 [1.36–1.81]

rs10842262

chr12:24031610

SOX5

Replicated locus

SCO

C/G

0.42/0.43

8.33E−01

0.97 [0.72-1.30]

0.37/0.46

2.16E−02

0.71 [0.53–0.95]

0.40/0.44

7.42E−02

0.83 [0.67–1.02]

0.61/0.69

8.16E−09

0.68 [0.56–0.81]

5.29E−09

0.72 [0.65–0.81]

rs4492992

chr15:29975739

TJP1

Novel

SCO

C/T

0.35/0.28

1.07E−01

1.29 [0.95–1.75]

0.28/0.22

3.56E−02

1.40 [1.02–1.92]

0.31/0.25

8.70E−03

1.34 [1.08–1.67]

0.42/0.37

3.00E−05

1.31 [1.18–1.43]

8.35E−07

1.32 [1.18–1.47]

rs112307255

chr2:9842137

TAF1B

Novel

SCO

G/A

0.31/0.26

1.07E−01

1.30 [0.95–1.78]

0.27/0.20

7.56E−03

1.56 [1.13–2.16]

0.29/0.23

2.54E−03

1.42 [1.13–1.78]

0.29/0.24

8.75E−05

1.30 [1.17–1.42]

9.57E−07

1.32 [1.18–1.48]

  1. Associated variants at the genome-wide significance level (P < 5E−08) are highlighted in bold.
  2. Alt alternative (effect) allele used for OR calculation, CI confidence interval, GRCh38 genome reference consortium human build 38, NOA non-obstructive azoospermia, OR per-allele odds ratio for the reference allele, Phen phenotype, Ref reference allele, SCO Sertoli cell-only, SPGF spermatogenic failure.
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