Table 8.
Impact of race/ethnicity heterogeneity in distribution of rare key domain C65 missense substitutions
| Class | Cases, n | Controls, n | Crude OR † (95% CI) | Adjusted OR † (95% CI) |
|---|---|---|---|---|
| Noncarriers |
1,283 |
1,114 |
|
|
| Key functional domain* C65 rMS or in-frame indel§ | ||||
| MRE11A |
4 |
0 |
|
|
| RAD50 |
4 |
1 |
|
|
| NBN |
2 |
1 |
|
|
| Total |
10 |
2 |
4.35 (0.95-19.9) |
1.78 (0.38-8.35) |
| Key functional domain* rMS (C0 < severity < C65)$ | ||||
| MRE11A |
3 |
1 |
|
|
| RAD50 |
6 |
1 |
|
|
| NBN |
1 |
0 |
|
|
| Total |
10 |
2 |
4.34 (0.95-19.9) |
4.55 (0.97-21.3) |
| T + SJV¥ plus key functional domain* rMS (C0 < severity < C65)$ | ||||
| MRE11A |
4 |
1 |
|
|
| RAD50 |
10 |
4 |
|
|
| NBN |
5 |
0 |
|
|
| Total |
19 |
5 |
3.30 (1.23-8.87) |
3.39 (1.23-9.33) |
| T + SJV¥ plus key functional domain* rMS (severity > C0), analysis limited to CEU¶ subjects. | ||||
| MRE11A |
3 |
0 |
|
|
| RAD50 |
7 |
4 |
|
|
| NBN |
4 |
0 |
|
|
| Total | 14 | 4 | 4.04 (1.33-12.3) | 4.08 (1.32-12.5) |
Boldface within the table indicates P <0.05. †In these binary logistic regressions, the regression coefficient = ln(OR). *The key functional domains are defined in Figure 1. §Eight distinct key functional domain C65 missense substitutions and the RAD50 final exon frameshift c.3852del4 fall in this group (Table 4). $Eleven distinct key functional domain missense substitutions fall in this group (Table 4). ¥Truncating and splice junction variants; excludes final exon nonsense and frameshift variants. ¶Limiting to CEU (Caucasians of European ancestry) subjects reduces the number of case and control noncarriers to 834 and 963, respectively. rMS, rare missense substitution; T + SJV, truncating and splice junction variants.