Table 5.
Comprehensive analysis of all AZF-linked CNVs and their effect on SF.
| CNVs types | Controls | Patients | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Normozoospermia (n = 402) | Spermatogenic failure (n = 423) | Azoospermia (n = 197) | Oligozoospermia (n = 226) | |||||||||
| n | OR | P | n | OR(95%CI) | P | n | OR(95%CI) | P | n | OR(95%CI) | P | |
| Any CNVs in AZF regiona | 76 | 1.00 | – | 145 | 2.24 | 8.37 × 10−7 | 62 | 1.97 | 7.00 × 10−4 | 82 | 2.44 | 2.00 × 10−6 |
| (1.62–3.08) | (1.33–3.91) | (1.69–3.53) | ||||||||||
| Any deletions in AZF regionb | 60 | 1.00 | – | 115 | 2.13 | 2.10 × 10−5 | 49 | 1.89 | 3.30 × 10−3 | 65 | 2.30 | 4.00 × 10−5 |
| (1.50–3.01) | (1.23–2.88) | (1.55–3.43) | ||||||||||
| Any duplications in AZF regionc | 16 | 1.00 | – | 30 | 1.84 | 5.46 × 10−2 | 13 | 1.70 | 1.65 × 10−1 | 17 | 1.96 | 6.02 × 10−2 |
| (0.99–3.43) | (0.80–3.62) | (0.97–3.96) | ||||||||||
| Any duplications in AZFc regiond | 12 | 1.00 | – | 27 | 2.22 | 2.47 × 10−2 | 12 | 2.11 | 7.43 × 10−2 | 15 | 2.31 | 3.47 × 10−2 |
| (1.11–4.44) | (0.93–4.78) | (1.06–5.03) | ||||||||||
a
, any CNVs (deletions or duplications or complex CNVs) in AZF region;
b
, any deletions not accompanied by duplications in AZF region;
c
, any duplications not accompanied by deletions in AZF region;
d
, any duplications not accompanied by deletions in AZFc region; P-values < 0.05 were considered significant.
The bold values mean P-value < 0.05.