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Browsing by Author "Falchi, Mario"

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  • Lipid traits and whole genome sequencing association studies
    Publication . Rossi, Niccolò; Bourbon, Mafalda; Falchi, Mario
    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.
    2017-10Conference object Restricted access Show more
  • Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
    Publication . Rossi, Niccolò; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario
    Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic architecture of a complex trait implicated in cardiovascular disease.
    2024-06-28Journal article Open access Show more