Table 1.
Description of the 76 probands with dyslipidemia.
| APOE Variant | LDL-MoM | TC-MoM | TG-MoM | Clinical Signs | Family History | Hyperlipidemia | ApoE Isoforms | 12-SNP wPRS | wPRS Decile b | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1038445539 | c.-380A > G | p.? | 1.67 | 1.44 | 2.07 | Xanthelasma | Yes | FCHL | E3E4 | 0.743 | III |
| rs1038445539 | c.-380A > G | p.? | 2.52 | 1.91 | 6.1 | Corneal arcus | Yes | FCHL | E3E4 | 1.021 | VIII |
| c.-279G > A | p.? | 1.4 | 1.41 | 5.71 | Yes | FCHL | E3E4 | 1.207 | X | ||
| - | c.-233G > C | p.? | 2.00 | 1.71 | 1.30 | Yes | ADH | E3E4 | 1.296 | X | |
| c.-105A > G | p.? | 1.9 | 1.78 | 2.56 | Yes | FCHL | E3E3 | 1.164 | X | ||
| rs766215051 | c.-81G > A | p.? | 2.40 | 1.76 | 1.31 | ADH | E3E4 | 1.116 | IX | ||
| rs750782549 | c.-78C > G | p.? | 1.57 | 1.41 | 2.55 a | Yes | FCHL | E3E4 | 0.824 | IV | |
| rs750782549 | c.-78C > G | p.? | 1.59 | 1.60 | 2.04 | FCHL | E3E4 | 1.164 | X | ||
| rs750782549 | c.-78C > G | p.? | 1.52 | 1.33 | 1.65 | Xanthelasma | ADH | E3E4 | 0.950 | VI | |
| - | c.43+11G > A | p.? | 1.47 | 1.41 | 1.90 | ADH | E3E4 | 1.173 | X | ||
| rs770658351 | c.44-1G > C | p.? | 2.17 | 2.44 | na | ADH | E3E4 | 0.722 | II | ||
| rs144354013 | c.31A > G | p.Thr11Ala | 4.12 | na | 3.12 a | FCHL | E3E4 | 0.950 | VI | ||
| rs111833428 | c.69G > A | p.Ala23= | 1.41 | na | 5.89 a | FCHL | E3E3 | 1.097 | IX | ||
| rs776242156 | c.68C > T | p.Ala23Val | 1.48 | 1.29 | 0.57 | CVD | ADH | E3E4 | 1.136 | IX | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.59 | 1.48 | 0.96 | ADH | E3E4 | 1.137 | IX | ||
| rs769452 | c.137T > C | p.Leu46Pro | 1.46 | 1.36 | 0.58 | Xanthoma | ADH | E4E4 | 1.136 | IX | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.33 | 1.25 | 1.65 | ADH | E3E4 | 1.012 | VII | ||
| rs769452 | c.137T > C | p.Leu46Pro | 2.18 | 1.75 | 1.56 | ADH | E3E4 | 1.365 | X | ||
| rs769452 | c.137T > C | p.Leu46Pro | 1.62 | 1.41 | 0.75 | Yes | ADH | E3E4 | 1.149 | IX | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.40 | 1.25 | 1.70 | Yes | ADH | E3E4 | 1.117 | IX | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.62 | 1.38 | 1.56 | ADH | E3E4 | 1.240 | X | ||
| rs769452 | c.137T > C | p.Leu46Pro | 1.65 | 1.50 | 1.34 | ADH | E3E4 | 0.919 | V | ||
| rs769452 | c.137T > C | p.Leu46Pro | 1.53 | 1.86 | 0.77 | Yes | ADH | E3E4 | 1.049 | VIII | |
| rs769452 | c.137T > C | p.Leu46Pro | 2.25 | 1.90 | 0.75 | Yes | ADH | E3E4 | 1.045 | VIII | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.62 | 1.43 | 1.09 | No | ADH | E3E4 | 1.068 | VIII | |
| rs769452 c | c.137T > C c | p.Leu46Pro c | 1.75 | 1.46 | 1.42 | Corneal arcus | ADH | E4E4 | 1.169 | X | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.46 | 1.36 | 2.36 | Yes | FCHL | E2E4 | 1.128 | IX | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.72 | 1.61 | 2.86 | CVD | FCHL | E3E4 | 1.133 | IX | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.58 | 1.43 | 4.04 a | CVD | FCHL | E3E4 | 0.891 | V | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.74 | 1.63 | 2.17 | Yes | FCHL | E3E4 | 1.120 | IX | |
| rs769452 | c.137T > C | p.Leu46Pro | 1.96 | 1.70 | 7.95 | Yes | FCHL | E3E4 | 0.727 | II | |
| rs767980905 | c.249C > T | p.Asp83= | 1.76 | 1.46 | 1.32 | ADH | E3E4 | 1.047 | VIII | ||
| rs11083750 | c.305C > T | p.Pro102Leu | 2.09 | 1.61 | 1.22 | ADH | E3E4 | 1.307 | X | ||
| rs573658040 | c.409C > T | p.Arg137Cys | 1.61 | 1.43 | 1.21 | ADH | E3E4 | 0.945 | VI | ||
| rs11542035 | c.410G > A | p.Arg137His | 1.70 | 1.51 | 1.40 | ADH | E3E3 | 0.912 | V | ||
| rs267606664 | c.434G > A | p.Gly145Asp | 1.4 | 1.43 | 3.03 | FCHL | E2E4 | 0.856 | IV | ||
| rs267606664 | c.434G > A | p.Gly145Asp | 2.21 | 2.72 | 5.5 a | Yes | FCHL | E3E4 | 0.480 | I | |
| rs1018669382 | c.463 C > T | p.Leu155Phe | 1.50 |
1.34 | 1.98 | ADH | E3E3 | 1.162 | X | ||
| rs769455 | c.487C > T | p.Arg163Cys | 1.68 | 1.54 | 1.60 | CVD | ADH | E3E3 | 0.948 | VI | |
| rs769455 | c.487C > T | p.Arg163Cys | 2.47 | na | 10 | Yes | FCHL | E3E3 | 0.625 | II | |
| rs769455 | c.487C > T | p.Arg163Cys | 1.41 | 1.23 | 2.52 | FCHL | E3E4 | 1.129 | IX | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.54 | 2.12 | 1.88 | CVD | ADH | E3E3 | 1.280 | X | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.01 | 1.61 | 1.25 | ADH | E3E3 | 1.028 | VIII | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.33 | 2.23 | 1.47 | ADH | E3E3 | 1.030 | VIII | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 3.51 | 2.66 | 1.16 | Corneal arcus | ADH | E3E3 | 0.680 | II | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.15 | 1.84 | 1.11 | ADH | E3E3 | 0.747 | III | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 3.55 | 2.52 | 1.03 | ADH | E3E3 | 1.098 | IX | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.43 | 2.03 | 1.11 | Yes | ADH | E3E3 | 0.985 | VII | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.79 | 2.09 | 1.37 | ADH | E3E3 | 1.076 | VIII | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 1.33 | 1.21 | 0.66 | ADH | E3E3 | 0.920 | V | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.09 | 1.36 | 1.37 | Yes | ADH | E3E4 | 0.824 | IV | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.47 | 2.12 | 0.88 | ADH | E3E4 | 0.983 | VII | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 1.93 | 1.61 | 1.05 | Corneal arcus | Yes | ADH | E3E4 | 1.190 | X |
| rs155726148 | c.500_502delTCC | p.Leu167del | 1.77 | 1.44 | 0.62 | Yes | ADH | E3E4 | 1.035 | VIII | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 1.31 | 2.16 | 1.69 | Yes | ADH | E3E3 | 0.698 | II | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 2.37 | 1.49 | 2.68 | FCHL | E3E4 | 0.832 | IV | ||
| rs155726148 | c.500_502delTCC | p.Leu167del | 1.58 | 1.47 | 2.02 | CVD | FCHL | E3E3 | 0.683 | II | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 1.66 | 1.50 | 2.07 | Yes | FCHL | E3E4 | 0.921 | V | |
| rs155726148 | c.500_502delTCC | p.Leu167del | 3.51 | 2.61 | 3.23 | FCHL | E3E3 | 0.952 | VI | ||
| rs1239911444 | c.517C > T | p.Leu173= | 1.74 | 1.70 | 3.22 | Yes | FCHL | E3E3 | 0.918 | V | |
| rs1421977676 | c.536C > T | p.Val179Ala | 1.65 | 1.57 | 3.05 | CVD | FCHL | E3E3 | na | na | |
| rs781722239 | c.555C > T | p.Arg185= | 2.17 | 1.86 | 0.66 | Corneal arcus | ADH | E3E3 | 0.689 | II | |
| - | c.638T > A d | p.Val213Glu d | 2.51 | 1.99 | 1.07 | ADH | E3E3 | 0.896 | V | ||
| rs72654468 | c.651C > T | p.Ala217= | 1.54 | 1.42 | 1.13 | ADH | E3E3 | 1.243 | X | ||
| rs72654468 | c.651C > T | p.Ala217= | 2.08 | 1.69 | 1.85 | ADH | E3E3 | 1.020 | VIII | ||
| rs72654468 | c.651C > T | p.Ala217= | 1.55 | 1.40 | 1.30 | ADH | E3E3 | 1.130 | IX | ||
| - | c.652G > T | p.Gly218Cys | 1.76 | 1.48 | 1.24 | ADH | E3E4 | 0.945 | VI | ||
| rs762906934 | c.745G > A | p.Glu249Lys | Na | 1.62 | 2.19 | CVD | FCHL | E3E3 | 0.962 | VI | |
| - | c.754G > A | p.Glu252Lys | 1.61 | 1.45 | 2.53 | Yes | FCHL | E3E4 | 0.897 | V | |
| rs267606661 | c.805C > G | p.Arg269Gly | 2.42 | 1.99 | 2.13 | CVD | FCHL | E3E4 | 1.243 | X | |
| rs267606661 | c.805C > G | p.Arg269Gly | 1.55 | 1.30 | 1.95 | CVD | ADH | E4E4 | 0.855 | IV | |
| rs267606661 | c.805C > G | p.Arg269Gly | 1.81 | 1.50 | 1.51 | ADH | E3E4 | 1.067 | VIII | ||
| rs267606661 | c.805C > G | p.Arg269Gly | 1.71 | 1.52 | 1.43 | ADH | E3E4 | 0.933 | V | ||
| rs374329439 | c.*25C > T | 3’UTR variant | 1.53 | 1.42 | 1.54 | ADH | E3E3 | 1.083 | IX | ||
| rs374329439 | c.*25C > T | 3’UTR variant | 1.46 | 1.41 | 2.1 | FCHL | E3E3 | 1.099 | IX | ||
| - | c.*36C > G | 3’UTR variant | 1.50 | 1.32 | 1.52 | ADH | E3E4 | 1.344 | X | ||
| Median [First quartile–third quartile] |
1.71 [1.54–2.17] |
1.50 [1.41–1.81] |
1.56 [1.21–2.36] |
||||||||
na: non-available. a Triglyceride values under statin treatment. b Scores in deciles I–III have a strong probability of monogenic ADH, whereas scores in deciles VIII–X have a strong probability of polygenic hypercholesterolemia. c Homozygous carrier. d Homozygous carrier of the p.(Leu21dup) variant in PCSK9 is known to be associated with reduced LDL-C [26].