Table 5.
Analyses of potentially pathogenic groups of rare variants
| Class | Cases, n | Controls, n | Crude OR † (95% CI) | Adjusted OR † (95% CI) |
|---|---|---|---|---|
| Noncarriers |
1,283 |
1,114 |
|
|
| T + SJV¥ | ||||
| MRE11A |
1 |
0 |
|
|
| RAD50$ |
4 |
3 |
|
|
| NBN |
4 |
0 |
|
|
| Total |
9 |
3 |
2.60 (0.70-9.65) |
2.61 (0.67-10.1) |
| Any key functional domain rMS or in-frame indel* | ||||
| MRE11A¢ |
10 |
1 |
|
|
| RAD50 |
10 |
2 |
|
|
| NBN |
4 |
2 |
|
|
| Total |
24 |
5 |
4.18 (1.59-11.0) |
3.17 (1.17-8.59) |
| Key functional domain rMS (severity > C0) or in-frame indel* | ||||
| MRE11A¢ |
7 |
1 |
|
|
| RAD50 |
10 |
2 |
|
|
| NBN |
3 |
1 |
|
|
| Total |
20 |
4 |
4.34 (1.48-12.7) |
3.07 (1.01-9.31) |
| T + SJV¥ plus key functional domain rMS (severity > C0) or in-frame indel* | ||||
| MRE11A¢ |
8 |
1 |
|
|
| RAD50$ |
14 |
5 |
|
|
| NBN |
7 |
1 |
|
|
| Total | 29 | 7 | 3.60 (1.57-8.24) | 2.88 (1.22-6.78) |
Boldface within the table indicates P <0.05. †In these binary logistic regressions, the regression coefficient = ln(OR). ¥Truncating and splice junction variants; excludes final exon nonsense and frameshift variants. $One subject (a case) carried both the RAD50 splice acceptor variant RAD50_c.552-1G > A and the RAD50 silent substitution RAD50 c.3153G > A (p.L1051L). *The key functional domains are defined in Figure 1. The set of variants includes rare missense substitutions with A-GVGD scores > C0, and final exon nonsense and frameshift variants if they also fall in a key functional domain. ¢One subject (a case) carried both the MRE11A key domain rare missense substitution MRE11A p.D235G and the NBN non key domain rare missense substitution NBN p.V210F. OR, odds ratio; CI, confidence interval.