Table 1.
Inactivating Mutations in NPC1L1 in Participants from 16 Studies. *
| Cohort and Mutation | Type of Mutation |
Study (No. of Participants/ No. of Carriers) |
Ancestry |
|---|---|---|---|
| Sequencing and genotyping cohorts |
All studies (113,094/82) | ||
| Sequencing cohort | |||
| All participants† | All studies in sequencing cohort (22,092/34) |
||
| p.L71RfsX50 | Frameshift | ARIC (2836/1), JHS (2251/1) | African |
| p.Q167X | Nonsense | OHS (1953/1) | European |
| p.A296VfsX57 | Frameshift | ATVB (3539/3) | European |
| p.R406X | Nonsense | ATVB (3539/4), PROCARDIS (1902/1), ARIC (5718/2) |
European |
| p.Y483X | Nonsense | PROMIS (1951/1) | South Asian |
| c.1681+1G→A | Splice-site | ARIC (2836/2), JHS (2251/1) | African |
| p.W592X | Nonsense | ARIC (5718/1) | European |
| p.R601X | Nonsense | ARIC (2836/1) | African |
| p.Q604X | Nonsense | ESP-EOMI (455/1), ARIC (2836/2) | African |
| p.R738X | Nonsense | REGICOR (783/2) | European |
| p.E803X | Nonsense | ARIC (5718/1) | European |
| c.2637+2T→G | Splice-site | ARIC (5718/1), Munich-MI (704/1) | European |
| p.C967X | Nonsense | ARIC (2836/1) | African |
| p.A1201V | Splice-site | JHS (2251/2) | African |
| p.R1325X | Nonsense | ARIC (2836 of African ancestry/1), JHS (2251 of African ancestry/2), ARIC (5718 of European ancestry/1) |
African and European |
| Genotyping cohort | |||
| All participants‡ | All studies in genotyping cohort (91,002/48) |
||
| p.R406X | Nonsense | ARIC (5237/4), BioVU (21,143/12), German North (7350/1), German South (8176/3), GoDARTS (3765/4), Mayo (2669/2), PROCARDIS (2227/1), WGHS (22,617/11), WHI (17,818/10) |
European |
ARIC denotes Atherosclerosis Risk in Communities, ATVB Atherosclerosis Thrombosis and Vascular Biology, BioVU Vanderbilt University Medical Center Biorepository, ESP-EOMI Exome Sequencing Project Early-Onset Myocardial Infarction, German North German North Coronary Artery Disease Study, German South German South Coronary Artery Disease Study, GoDARTS Genetics of Diabetes Audit and Research Tayside, JHS Jackson Heart Study, Mayo Mayo Vascular Diseases Biorepository, Munich-MI Munich Myocardial Infarction, OHS Ottawa Heart Study, PROCARDIS Precocious Coronary Artery Disease, PROMIS Pakistan Risk of Myocardial Infarction Study, REGICOR Registre Gironi del COR, WGHS Women’s Genome Health Study, and WHI Women’s Health Initiative.
The number of participants in the sequencing cohort includes 7364 patients with coronary heart disease and 14,728 controls without such disease.
The number of participants in the genotyping cohort includes 22,590 patients with coronary heart disease and 68,412 controls without such disease.