Table 3.
Phenotypic association analysis of genes related to residual hyperlipidemia which were also mentioned in the GLGC.
| Mutation set | Gene | cMAF | OR | p value | TC P (Beta) | LDL‐C P (Beta) | ApoA1 P (Beta) | ApoB P (Beta) | ApoE P (Beta) | NHDL‐C P (Beta) |
|---|---|---|---|---|---|---|---|---|---|---|
| Nonsynoymous | PPARD | 0.003 | 22.19 | 0.02 | 0.075 (47.6) | 0.045 (48.64)a | 0.019 (0.33)a | 0.03 (0.31)a | NA | 0.148 (1.02) |
| Broad | PPARD | 0.003 | 22.19 | 0.02 | 0.075 (47.6) | 0.045 (48.64)a | 0.019 (0.33)a | 0.03 (0.31)a | NA | 0.148 (1.02) |
| PolyPhen | PPARD | 0.003 | 22.19 | 0.02 | 0.075 (47.6) | 0.045 (48.64)a | 0.019 (0.33)a | 0.03 (0.31)a | NA | 0.148 (1.02) |
| Nonsynoymous | CABP1 | 0.003 | 22.19 | 0.02 | 0.121 (58.38) | 0.03 (73.87)a | 0.843 (−0.04) | 0.133 (0.31) | NA | NA |
| Broad | CABP1 | 0.003 | 22.19 | 0.02 | 0.121 (58.38) | 0.03 (73.87)a | 0.843 (−0.04) | 0.133 (0.31) | NA | NA |
| Nonsynoymous | LDLR | 0.027 | 4.25 | 0.002 | 0.363 (12.94) | 0.013 (31.4)a | 0.518 (−0.06) | 0.035 (0.18)a | 0.691 (−2.5) | 0.343 (0.44) |
| Nonsynoymous | HLA‐E | 0.003 | 22.19 | 0.02 | 0.017 (87.86)a | 0.004 (96.49)a | NA | NA | NA | 0.224 (1.18) |
| Broad | HLA‐E | 0.003 | 22.19 | 0.02 | 0.017 (87.86)a | 0.004 (96.49)a | NA | NA | NA | 0.224 (1.18) |
| Strict | GBA | 0.003 | 22.19 | 0.02 | 0.494 (18.42) | 0.977 (−0.7) | 0.005 (0.39)a | 0.889 (0.02) | NA | 0.797 (−0.18) |
| Strict | ADGRA2 | 0.004 | 11.1 | 0.04 | 0.847 (5.19) | 0.534 (−15.14) | 0.016 (0.33)a | 0.223 (−0.18) | 0.65 (−4.79) | 0.245 (−0.81) |
| Nonsynoymous | SPRYD3 | 0.004 | 11.1 | 0.04 | 0.355 (24.8) | 0.327 (23.91) | 0.524 (−0.13) | 0.027 (0.44)a | NA | 0.154 (1.38) |
| PolyPhen | RASGEF1B | 0.004 | 11.1 | 0.04 | 0.183 (49.72) | 0.124 (52.11) | 0.524 (−0.13) | 0.027 (0.44)a | NA | 0.154 (1.38) |
| Strict | TOE1 | 0.004 | 33.6 | 0.002 | 0.009 (68.66)a | 0.01 (62.05)a | 0.102 (0.23) | 0.017 (0.34)a | 0.779 (−2.14) | 0.002 (2.13)a |
| Strict | APBB2 | 0.004 | 11.1 | 0.04 | 0.183 (49.72) | 0.124 (52.11) | 0.524 (−0.13) | 0.027 (0.44)a | NA | 0.154 (1.38) |
| Strict | LTF | 0.012 | 5.02 | 0.02 | 0.931 (1.93) | 0.9 (−2.54) | 0.97 (−0.004) | 0.02 (−0.27)a | 0.028 (16.23)a | 0.447 (−0.44) |
| Strict | TP53BP1 | 0.006 | 8.41 | 0.02 | 0.24 (−25.64) | 0.1 (−32.51) | 0.693 (0.05) | 0.491 (−0.08) | 0.011 (18.47)a | 0.175 (−0.95) |
| Nonsynoymous | FGB | 0.019 | 4.6 | 0.006 | 0.984 (−0.39) | 0.726 (−6.17) | 0.246 (−0.12) | 0.758 (0.03) | 0.782 (1.53) | 0.029 (0.99)a |
| Broad | FGB | 0.019 | 4.6 | 0.006 | 0.984 (−0.39) | 0.726 (−6.17) | 0.246 (−0.12) | 0.758 (0.03) | 0.782 (1.53) | 0.029 (0.99)a |
| Nonsynoymous | HPSE2 | 0.009 | 4.8 | 0.04 | 0.016 (52.78)a | 0.037 (41.63)a | 0.451 (0.11) | 0.129 (0.23) | 0.884 (−1.6) | 0.034 (1.45)a |
| Broad | HPSE2 | 0.008 | 5.6 | 0.03 | 0.016 (52.78)a | 0.037 (41.63)a | 0.451 (0.11) | 0.129 (0.23) | 0.884 (−1.6) | 0.034 (1.45)a |
| PolyPhen | HPSE2 | 0.004 | 11.1 | 0.04 | 0.001 (81.96)a | 0.005 (66.3)a | 0.512 (0.13) | 0.169 (0.28) | NA | 0.034 (1.45)a |
| Disruptive | MNS1 | 0.003 | 22.19 | 0.02 | 0.825 (8.33) | 0.846 (−6.63) | 0.37 (0.18) | 0.782 (−0.06) | 0.791 (−2) | 0.048 (1.36)a |
| Disruptive | PM20D1 | 0.004 | 11.1 | 0.04 | 0.119 (−60.27) | 0.142 (−51.64) | 0.882 (0.03) | 0.162 (−0.29) | 0.605 (−5.53) | 0.003 (2.87)a |
| Broad | SLK | 0.008 | 5.6 | 0.03 | 0.621 (19.49) | 0.561 (20.84) | 0.135 (0.31) | 0.474 (−0.15) | 0.605 (−5.53) | 0.003 (2.87)a |
| PolyPhen | SLK | 0.004 | 33.6 | 0.002 | 0.621 (19.49) | 0.561 (20.84) | 0.135 (0.31) | 0.474 (−0.15) | 0.605 (−5.53) | 0.003 (2.87)a |
Note: OR and p value were calculated by Fisher's exact test. Beta (P) represents the coefficient and p value of effect of the mutation set in genes on the corresponding clinical phenotypic markers in linear regression.
Abbreviations: ApoA1, apolipoprotein A1; ApoB, apolipoprotein B; ApoE, apolipoprotein E; cMAF, collapsed minor allele frequency; LDL‐C, low‐density lipoprotein‐cholesterol; NA, not applicable; NHDL‐C, non‐HDL‐cholesterol; OR, odds ratio; TC, total cholesterol.
a
Refers to significant results.