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Risk_factor Report for: Hypercholesterolemia, familial due to LDLR defect, modifier of

Alternative name(s)|
Mutation|1 mutation:
OMIM: |132811

(from OMIM) Sato et al. (2004) described studies of the EPHX2 R287Q variant on the plasma total cholesterol and triglyceride phenotype in a very large Utah family with coronary artery disease studied by Takada et al. (2002). In studying 160 members of an 8-generation extended family with familial hypercholesterolemia (see 143890), they found that 69 members had type IIa hyperlipoproteinemia (i.e., high plasma cholesterol) and 10 had type IIb hyperlipoproteinemia (i.e., high plasma triglyceride as well as high plasma cholesterol). Intrafamilial correlation analysis of the modifier effect of the R287Q substitution in the EPHX2 gene was carried out among 79 mutation carriers of the LDLR mutation IVS14+1G-A (606945.0063) and 81 noncarriers. Half of the patients who presented with type IIb hyperlipoproteinemia had inherited a defective LDLR allele as well as an EPHX2-arg287 allele, whereas most who presented with type IIa hyperlipoproteinemia had a defective LDLR allele but not an EPHX2-arg287 allele. These results indicated a significant modification of the phenotype of familial hypercholesterolemia with defective LDLR allele by the arg287 variation. (The arg287-to-gln polymorphism was erroneously published as GLU287ARG in Sato et al., 2004).30 PubMed Neighbors

    Title: Role of sEH R287Q in LDLR expression, LDL binding to LDLR and LDL internalization in BEL-7402 cells
    Tang L, Wang G, Jiang L, Chen P, Wang W, Chen J, Wang L
    Ref: Gene, 667:95, 2018 : PubMed


    Title: Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred
    Sato K, Emi M, Ezura Y, Fujita Y, Takada D, Ishigami T, Umemura S, Xin Y, Wu LL and Hopkins PN <3 more author(s)>
    Ref: J Hum Genet, 49:29, 2004 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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