Lipid traits and whole genome sequencing association studies

Rossi, Niccolò; Bourbon, Mafalda; Falchi, Mario

http://hdl.handle.net/10400.18/4823

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Authors

Rossi, Niccolò

Bourbon, Mafalda

Falchi, Mario

Abstract(s)

Background: Genome-wide association studies (GWAS) have significantly advanced the genetic study of complex human traits. With the advent of next generation sequencing technologies, whole genome sequencing based GWAS are expected to provide further opportunities for the discovery of low frequency and rare variants with a large effect size. Moreover heritability of lipid traits has been estimated from 30% to 70 in family-based studies. Given the strong genetic component, twins represent a powerful resource to explore the genetic architecture of dyslipidemias. Objectives: Still a big gap exists between clinical and genetic diagnosis of dyslipidemic disorders. Almost the 60% of the patients with a clinical diagnosis of Familial hypercholesterolemia (FH) still lacks of a genetic diagnosis. It has been suggested that this gap might include a high percentage of individuals with a polygenic or environmental forms of dyslipidemia, while a small percentage of individuals may carry a mutation in some genes not yet known to be associated with FH. Here I present the results of an association analysis of lipids traits and whole genome sequencing data coming from 1762 twins from the TiwnsUK cohort.