Table 2.
Genes and mutations identified as causal for monogenic familial coronary artery disease
| Categories | Genes | Chrom | OMIM | Mutations | Ref. | GWAS1 |
| Monogenic CAD genes | ST6GALNAC5 | 1p31.1 | 610134 | G295A (p.*337Qext*20 stop-loss) | [52] | No |
| CYP27A1 | 2p35 | 606530 | G674A (p. Arg225His) | [51] | No | |
| MEF2A | 15q26.3 | 608320 | 21-bp del in exon 11 | [34,38] | No | |
| LRP6 | 12p13.2 | 610947 | G1079A (p. Arg611Cys) T1298C (p. Asn433Ser) | [44,159] | No | |
| Gene mutations cause high LDL | LDL receptor | 19p13.2 | 606945 | > 1000 variants | [55] | Yes |
| PCSK9 | 1p32.3 | 603776 | 9 gain-of-function mutations | [63] | Yes | |
| ApoB-100 | 2p24.1 | 144010 | C10580G (p. Arg3527Gln) C10800T (p. Arg3531Cys) rs515135 | [59,60,84] | Yes | |
| LDLRAP1, ARH | 1p36.11 | 603813 | ARH1: 432 ins A (p. FS170stop) ARH2: G65A (p. Trp22ter) | [66] | No | |
| Mutations cause low HDL | ABCA1 | 9q31.1 | 205400 | Many ABCA1 LoF alleles Rs2230806 > A | [78,158] | Yes |
| LCAT | 16q22.1 | 606967 | > 80 mutations Rs5923 ↑ CAD in Egyptians | [160] | Yes | |
| Mutations cause high TG | Apo C-II | 19q13.2 | 207750 | ApoCIISt. Michael p. Gln70Pro | [85,86] | No |
1
The association between the genetic variant and the risk of CAD and MI is also discovered in GWAS. GWAS: Genome-wide association studies; CAD: Coronary artery disease; MI: Myocardial infarction; HDL: High-density lipoprotein; LDL: Low-density lipoprotein; TG: Triglyceride; OMIM: Online Mendelian Inheritance in Man.