Table 3.
Distribution of known and novel duplications in AZF regions and their effects on SF.
| Duplications 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 | |||
| Duplication only | AZFc | b2/b4 dup | 2 | 1.00 | – | 3 | 1.43 | 6.97 × 10−1 | 0 | – | – | 3 | 2.69 | 2.80 × 10−1 |
| (0.24–8.60) | (0.45–16.22) | |||||||||||||
| gr/gr dup | 5 | 1.00 | – | 13 | 2.52 | 8.20 × 10−2 | 7 | 2.93 | 6.99 × 10−2 | 6 | 2.17 | 2.06 × 10−1 | ||
| (0.89–7.13) | (0.92–9.34) | (0.65–7.18) | ||||||||||||
| b2/b3 dup | 1 | 1.00 | – | 4 | 3.83 | 2.31 × 10−1 | 3 | 6.20 | 1.15 × 10−1 | 1 | 1.78 | 6.83 × 10−1 | ||
| (0.43–34.40) | (0.64–60.00) | (0.11–28.63) | ||||||||||||
| b2/b3 trip | 0 | 1.00 | – | 1 | – | – | 0 | – | – | 1 | – | – | ||
| BPY2 partial dup-Type I* | 2 | 1.00 | – | 2 | 0.95 | 9.59 × 10−1 | 1 | 1.02 | 9.87 × 10−1 | 1 | 0.89 | 9.24 × 10−1 | ||
| (0.13–6.78) | (0.09–11.32) | (0.08–9.86) | ||||||||||||
| BPY2 partial dup-Type II* | 2 | 1.00 | – | 1 | 0.47 | 5.43 × 10−1 | 1 | 1.02 | 9.87 × 10−1 | 0 | – | – | ||
| (0.04–5.25) | (0.09–11.32) | |||||||||||||
| Type Ia + gr/gr dup* | 0 | 1.00 | – | 1 | – | – | 0 | – | – | 1 | – | – | ||
| b2/b4 dup + gr/gr dup* | 0 | 1.00 | – | 2 | – | – | 0 | – | – | 2 | – | – | ||
| AZFb | RBMY1J dup* | 0 | 1.00 | – | 1 | – | – | 0 | – | – | 1 | – | – | |
| AZFa | AZFa partial dup Type I* | 4 | 1.00 | – | 1 | 0.24 | 1.97 × 10−1 | 1 | 0.51 | 5.45 × 10−1 | 0 | – | – | |
| (0.03–2.12) | (0.06–4.57) | |||||||||||||
| AZFa partial dup Type II* | 0 | 1.00 | – | 1 | – | – | 0 | – | – | 1 | – | – | ||
*
indicated that the CNV was not reported previously;
a
, BPY2 partial dup-Type I; dup, duplication; trip, triplication; P-values < 0.05 were considered significant.