A Novel Molecular Diagnostic Marker for Familial and Early-Onset Coronary Artery Disease and Myocardial Infarction in the LRP8 Gene | Zendy

Gong-Qing Shen | Zendy; Domenico Girelli | Zendy; Lin Li | Zendy; Shaoqi Rao | Zendy; Stephen Archacki | Zendy; Oliviero Olivieri | Zendy; Nicola Martinelli | Zendy; Jeong Euy Park | Zendy; Qiuyun Chen | Zendy; Eric J. Topol | Zendy; Qing K. Wang | Zendy

Open Access

A Novel Molecular Diagnostic Marker for Familial and Early-Onset Coronary Artery Disease and Myocardial Infarction in the LRP8 Gene

Author(s) -

Gong-Qing Shen,

Domenico Girelli,

Lin Li,

Shaoqi Rao,

Stephen Archacki,

Oliviero Olivieri,

Nicola Martinelli,

Jeong Euy Park,

Qiuyun Chen,

Eric J. Topol,

Qing K. Wang

Publication year - 2014

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.113.000321

Subject(s) - haplotype , coronary artery disease , familial hypercholesterolemia , medicine , single nucleotide polymorphism , myocardial infarction , linkage disequilibrium , population , genetics , biology , allele , cardiology , genotype , cholesterol , gene , environmental health

Many single-nucleotide polymorphisms have been associated with coronary artery disease (CAD)/myocardial infarction (MI) by genome-wide association studies, but the diagnostic value of these variants is limited. Functional single-nucleotide polymorphism R952Q in LRP8 is associated with familial and early-onset CAD/MI. The objective of this study is to test whether fine mapping and haplotype analysis for single-nucleotide polymorphisms flanking R952Q may identify a haplotype that may serve as a molecular diagnostic marker for familial and early-onset CAD/MI.

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