Table 3.
Associations Between P/LP Truncating FLCN Variants and Diagnosis of BHD-related Phenotypesa in the First- and Second-Degree Unrelated European Subset of the MyCode Cohort
| Phenotype | Patient-Participants with P/LP Truncating FLCN Variant N=27 |
Remaining MyCode Cohort N=79496 |
Odds Ratio (95% CI) | p-valueb |
|---|---|---|---|---|
| Any Pulmonary Phenotype | 7 (25.9%) | 6,422 (8.1%) | 4.16 (1.65–9.43) | 0.026* |
| Spontaneous Pneumothorax | 6 (22.2%) | 1,523 (1.9%) | 15.63 (5.96–35.69) | 1.92×10−5* |
| Pulmonary Cyst | 5 (18.5%) | 5,245 (18.5%) | 3.40 (1.17–8.32) | 0.185 |
| Cutaneous Phenotype | 10 (37.0%) | 16,243 (20.4%) | 2.19 (0.97–4.70) | 0.405 |
| Any Kidney Phenotype | 1 (3.7%) | 2,200 (2.8%) | 1.93 (0.21–7.43) | >0.99 |
| Renal Mass | 0 (0%) | 1,693 (2.1%) | 0.81 (0.01–5.81) | >0.99 |
| Kidney Cancer | 1 (3.7%) | 852 (1.1%) | 4.94 (0.55–19.37) | 0.891 |
a
Ability of ICD-9/10 codes in the EHR to accurately identify BHD-related phenotypes varied between phenotypes.
b
Bonferroni corrected for multiple testing (7-tests).