Table 2.
Population Genetic and Epidemiological Parameters for AZFc-Related Deletions that Cause or Might Predispose to SSF
|
Deletion Type |
|||
|---|---|---|---|
| b2/b4 | gr/gr | b1/b3 | |
| Prevalence in Population | |||
| Total number of men tested | 20,884 | 19,113a | 20,884 |
| Number of men with deletion | 9 | 427a | 21 |
| Percentage of men with deletion (95% CI) | 0.043 (0.021–0.085) | 2.2 (2.0–2.5) | 0.10 (0.064–0.16) |
| Prevalence among Men with SSF | |||
| Total number of men tested | 713 | 4,685 | 3,956 |
| Number of men with deletion | 42 | 194 | 10 |
| Percentage of men with deletion (95% CI) | 5.9 (4.3–7.9) | 4.1 (3.6–4.8) | 0.25 (0.13–0.48) |
| Source of data | Oates et al.15 | new data and literature (Table S7) | new data and literature (Table S7) |
| Calculated Parameters | |||
| Relative risk of SSF (95% CI) | 145 (85–310) | 1.9 (1.6–2.2) | 2.5 (1.2–4.6) |
| Percentage of deletion-bearing men who have SSF (bootstrap 95% CI) | 100 (assumed 100) | 1.4 (0.63–2.3) | 1.8 (0.63–4.1) |
| Attributable risk percentage of SSFb (bootstrap 95% CI) | 99 (99–100) | 47 (39–54) | 60 (17–78) |
| Population-attributable risk percentage of SSFc (bootstrap 95% CI) | 5.9 (4.4–7.4) | 2.0 (1.4–2.5) | 0.15 (0.022–0.29) |
| μ (95% CI) | 4.3 × 10−4 (= prevalence) (2.1 × 10−4 to 8.5 × 10−4) | ||
We estimated parameters from prevalences in unselected populations and prevalences among men with SSF as discussed in the text and the Supplementary Note. The following abbreviations are used: CI, confidence interval; SSF, severe spermatogenic failure; and μ, mutation rate per father-to-son transmission of a Y chromosome.
For gr/gr deletions, we considered only the Polish and United States populations, which best matched the bulk of the data in the literature on gr/gr-deletion prevalence among men with SSF (Table S7).
In men with a given deletion, the percentage of SSF that is due to that deletion. Supplemental Data provide details of calculations.
The percentage of SSF due to the given deletion in the population.