TABLE 4.
Individuals with a new molecular diagnosis of HDL
| Patient ID | Gender | Age | TC | HDL-C | LDL-C | TG | ApoA-I | Gene | Type | Variant |
| Low HDL-C patients | ||||||||||
| 114 | F | 43 | 3.48 | 0.10 | 2.30 | 2.49 | 0.05 | APOA1 | Homo. | p.Arg34* |
| 18301 | M | 21 | 1.80 | 0.10 | 1.36 | 0.85 | 0.27 | ABCA1 | Cmpd. het. | p.Arg2200* |
| pTrp590Leu | ||||||||||
| 34 | F | 21 | 2.30 | 0.10 | 1.70 | 1.10 | 0.90 | LCAT | Homo. | p.Thr348Ile |
| ABCA1 | Het. | p.Val2244Ile | ||||||||
| 13 | M | 63 | 5.18 | 0.33 | 3.73 | 2.44 | 1.04 | ABCA1 | Het. | p.Arg638Gln |
| 96 | M | 59 | 3.70 | 0.36 | – | 4.06 | 0.89 | LCAT | Het. | p.Arg159Gln |
| 41 | M | 62 | 3.87 | 0.39 | 2.28 | 2.65 | 1.15 | LCAT | Het. | p.Ala165Thr |
| ABCA1 | Het. | p.Arg1680Gln | ||||||||
| 28 | M | 41 | 3.10 | 0.40 | 1.30 | 3.00 | 0.60 | APOA1 | Het. | p.Lys131del |
| LCAT | Het. | p.Ser232Thr | ||||||||
| 4 | F | 67 | 3.15 | 0.44 | 1.71 | 2.21 | 0.62 | ABCA1 | Het. | p.Arg1817* |
| 21 | M | 61 | 4.70 | 0.50 | 2.50 | 3.70 | 1.00 | ABCA1 | Het. | p.Asp585Glu |
| 91 | M | 62 | 3.40 | 0.50 | 1.80 | 2.40 | 0.76 | ABCA1 | Het. | p.Pro847Leu |
| 35 | M | 26 | 4.00 | 0.50 | 2.70 | 1.70 | 1.14 | LCAT | Het. | p.Thr348Ile |
| ABCA1 | Het. | p.Val2244Ile | ||||||||
| 87 | M | 49 | 3.20 | 0.52 | 1.60 | 2.20 | 0.98 | ABCA1 | Het. | p.Glu1902Ilefs*12 |
| SCARB1 | Het. | p.Gly239Arg | ||||||||
| 117 | F | 58 | 6.63 | 0.59 | 5.30 | 1.61 | 1.12 | ABCA1 | Cmpd. het. | p.Thr1512Met |
| p.Gln980Serfs*9 | ||||||||||
| 9 | F | 40 | 4.90 | 0.60 | – | 8.70 | 1.13 | LCAT | Het. | p.Ser232Thr |
| 90 | M | 48 | 3.60 | 0.60 | 2.30 | 1.60 | 1.11 | LCAT | Het. | p.Gly368Val |
| 20 | M | 56 | 1.83 | 0.65 | 0.79 | 0.85 | 1.14 | ABCA1 | Het. | p.Val399Ala |
| 115 | F | 54 | 4.20 | 0.66 | 2.40 | 2.50 | 1.30 | ABCA1 | Cmpd. het. | p.Trp1699Cys |
| p.Ala1046Asp | ||||||||||
| LCAT | Het. | p.Ser232Thr | ||||||||
| 139 | M | 60 | 3.43 | 0.66 | 1.16 | 3.55 | 1.16 | ABCA1 | Het. | p.Val399Ala |
| 134 | M | 71 | 3.40 | 0.70 | 2.00 | 1.50 | 0.99 | LCAT | Het. | p.Thr147Ile |
| 14 | M | 31 | 6.60 | 0.70 | 4.40 | 3.20 | 1.01 | LCAT | Het. | p.Ser232Thr |
| 57 | M | 35 | 4.10 | 0.70 | 2.90 | 1.00 | 0.96 | APOA1 | Het. | p.Lys131Met |
| 53 | M | 47 | 4.16 | 0.71 | 2.49 | 2.12 | 0.93 | ABCA1 | Het. | p.Cys1484Leufs*17 |
| 66 | F | 53 | 3.80 | 1.00 | 2.40 | 0.80 | 1.11 | ABCA1 | Het. | p.Trp590Leu |
| High HDL-C patients | ||||||||||
| 36 | F | 77 | 6.80 | 3.15 | 3.40 | 0.69 | — | LIPG | Cmpd. het. | p.Ile239Thr |
| p.Arg476Trp | ||||||||||
| 48 | F | 61 | 5.10 | 2.20 | 2.20 | 1.47 | 2.38 | CETP | Het. | p.Asp459Gly |
| ABCA1 | Het. | p.Leu1041Val | ||||||||
| 44 | M | 71 | 5.10 | 2.20 | 2.20 | 2.00 | 1.97 | CETP | Het. | Splice site |
| 100 | M | 89 | 5.46 | 2.13 | 2.87 | 1.01 | 1.69 | LIPG | Het. | p.Glu273* |
TC, total cholesterol; Het., heterozygous; Cmpd. het., compound heterozygous; Homo., homozygous.