TABLE 2.
Segregation of mutations in extreme HDL genes
Gene | Mutations (number of probands) | HDLp Mutation Carriers | HDLp Family Controls |
GCKR | R232Q(2)+R518W(1) | 85.1 (11.4) (21) | 77.2 (22.1) (14); 0.004; 12.7 |
LILRA3 | IVS1+0T>C(1) | 86.4 (10.9) (7) | 51.7 (30.4) (21); 0.036; 34.9 |
RNASEL | G179R(1)+E265X(1) | 90.6 (11.1) (16) | 71.3 (27.0) (33); 0.01; 20.1 |
DNAH10 | IVS63+0 G>A(1) | 95.8 (0.5) (4) | 41.8 (33.1) (4); 0.04; 59.8 |
HDLp = HDLc percentile; values are average (standard deviation) (n); empirical P value following 1,000,000 permutations (in bold); beta.