Table 4.
Analysis of Truncating and Spliceogenic Splice-Junction Variants
| Cases | Controls | Crude OR [95% CI] | Adjusted OR [95% CI]a | |
|---|---|---|---|---|
| Bona Fide Case-Control Studiesb | ||||
| Noncarrier | 2505 | 2235 | ref | ref |
| T+SJ | 26 | 10 | 2.33 [1.12–4.84] | 2.32 [1.12–4.83] |
| All Studies | ||||
| Noncarrier | 4076 | 2389 | ref | ref |
| T+SJ | 36 | 10 | 2.10 [1.04–4.24] | 2.08 [1.03–4.21] |
Abbreviations are as follows: OR, odds ratio; CI, confidence interval;ref, reference category (OR = 1.0).
a
The OR from the analysis of the bona fide case-control studies was adjusted for study. The OR from the analysis of all studies was adjusted for ethnicity and sensitivity of the mutation-screening method employed.
b
The bona fide case-control studies included both mutation-screened cases and mutation-screened controls that met our ascertainment criteria.