Review
Copyright ©The Author(s) 2016.
World J Cardiol. Jan 26, 2016; 8(1): 1-23
Published online Jan 26, 2016. doi: 10.4330/wjc.v8.i1.1
Table 2 Genes and mutations identified as causal for monogenic familial coronary artery disease
CategoriesGenesChromOMIMMutationsRef.GWAS1
Monogenic CAD genesST6GALNAC51p31.1610134G295A (p.*337Qext*20 stop-loss)[52]No
CYP27A12p35606530G674A (p. Arg225His)[51]No
MEF2A15q26.360832021-bp del in exon 11[34,38]No
LRP612p13.2610947G1079A (p. Arg611Cys) T1298C (p. Asn433Ser)[44,159]No
Gene mutations cause high LDLLDL receptor19p13.2606945> 1000 variants[55]Yes
PCSK91p32.36037769 gain-of-function mutations[63]Yes
ApoB-1002p24.1144010C10580G (p. Arg3527Gln) C10800T (p. Arg3531Cys) rs515135[59,60,84]Yes
LDLRAP1, ARH1p36.11603813ARH1: 432 ins A (p. FS170stop) ARH2: G65A (p. Trp22ter)[66]No
Mutations cause low HDLABCA19q31.1205400Many ABCA1 LoF alleles Rs2230806 > A[78,158]Yes
LCAT16q22.1606967> 80 mutations Rs5923 ↑ CAD in Egyptians[160]Yes
Mutations cause high TGApo C-II19q13.2207750ApoCIISt. Michael p. Gln70Pro[85,86]No