TABLE 1.
Characteristics and genotypes of null Lp(a) subjects selected for study
| Participant | G5780 | G5591 | G5788 | G5792 | LPA089 | LPA114 | G5751 |
| Age | 50 | 27 | 62 | 72 | 79 | 52 | 64 |
| Gender | Male | Male | Male | Male | Male | Male | Male |
| CVD history | Yes | No | Yes | Yes | Noa | Noa | No |
| TC (mmol/l) | 5.5 | 2.8 | 7.4 | 5.8 | 5.6 | 6.2 | 6.2 |
| TG (mmol/l) | 3.11 | 1.24 | 4.02 | 4.39 | 0.6 | 2.5 | 1.73 |
| HDL-C (mmol/l) | 1 | 1 | 0.76 | 1.43 | 1.67 | 1.48 | 1.53 |
| LDL-C (mmol/l) | 3.09 | 1.24 | 4.81 | 2.37 | 3.7 | 3.6 | 3.88 |
| Lp(a) (mg/dl) | <3 | <3 | <3 | <3 | <3 | <3 | <3 |
| apo(a) phenotype | 0/0 | 0/0 | 0/0 | 0/0 | 0/0 | 0/0 | 21/0 |
| Genotypes | |||||||
| KIV-1 | |||||||
| W52G | Yes | — | — | — | — | — | — |
| KIV-2 | |||||||
| R20X | — | — | — | Yes | — | Yes | — |
| M38L | Yes | — | — | — | — | — | — |
| T46N | — | — | Yes | — | — | — | — |
| A114T (G4925A) | — | — | — | — | — | — | Yes |
| KIV-4 | |||||||
| R990Q rs41259144 | Yes | Yes | — | — | Yes | — | Yes |
| KIV-8 | |||||||
| +1splice rs41272114 | — | — | Yes | Yes | — | Yes | — |
| T1399P rs41272110 | — | — | — | — | — | — | Yes |
| P1428L rs76144756 | — | — | — | — | — | — | Yes |
| KV | |||||||
| R1771C rs139145675 | — | — | — | — | Yes | — | — |
| Protease | |||||||
| R2016C rs3124784 | — | — | — | — | Yes | — | — |
The KIV-2 variants are numbered as per Coassin et al. (43), which numbers the first amino acid. Variants in bold are already known null variants or variants associated with significantly decreased Lp(a). For participants with multiple variants, the heterozygosity status could not be definitely determined.
a
Family history of CVD data was also available for these two participants, which showed no family history.