Genetic testing for Familial Hypercholesterolaemia in the genomic era. The utility of an NGS test for monogenic and polygenic hypercholesterolaemia

Watson, E.; Honeychurch, J.; Hills, Alison; Dean, P.D.G.; Yarram-Smith, Laura; Woodward, Geoff; Wadsley, Marc; Moore, Richard C.; Humphries, Steve E.; Bayly, Graham; Williams, Maggie

doi:10.1016/j.atherosclerosissup.2017.08.007

Cited by 1 publication

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“…In the remainder, a mutation in a novel gene may be present [ 6 ]. In an audit of the genetic testing that incorporated 12 LDL-C-raising SNPs associated with LDL-C concentrations above the diagnostic threshold for FH, it was found that approximately 36% of the cases had an FH-causing mutation and among the patients where no mutation was found, 54% had a SNP score consistent with an increased likelihood of a polygenic hypercholesterolemia [ 11 ].…”

Section: Polygenic Hypercholesterolemiamentioning

confidence: 99%

Polygenic Hypercholesterolemia and Cardiovascular Disease Risk

et al. 2019

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Purpose of the Review I dentification of loci and common single-nucleotide polymorphisms (SNPs) that have modest effects on plasma lipids have been used to confirm or refute the causal role of lipid traits in the development of coronary heart disease (CHD), and as tools to identify individuals with polygenic hypercholesterolemia. Recent Findings Several groups have reported on the use of SNP scores in distinguishing individuals with a clinical diagnosis of familial hypercholesterolemia (FH) with a monogenic or polygenic etiology. We review evidence that those with monogenic FH have worse prognosis and discuss the possible mechanisms for this and their management. Summary Individuals with a clinical phenotype of FH and a monogenic cause are at greater risk of CHD than those where no causative mutation can be found. The patients with polygenic hypercholesterolemia would not require elaborate cascade screening or secondary care input for their management.

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Section: Polygenic Hypercholesterolemiamentioning

confidence: 99%