6 documents found, page 1 of 1
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-po...
Rossi, Niccolò; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.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...
Tackling the molecular basis of lipid metabolism: from candidate genes testing ...
Rossi, NiccolòDyslipidemia, broadly defined as an unhealthy deviation of plasma lipid levels, is a well-known heritable risk factor for c ardiovascular diseases (CVD), the first cause of death worldwide. Uncovering the genetic basis of p lasma lipids is, therefore, fundamental for CVD prevention and treatment. In this work, I tackled dyslipidemia from two different perspectives, namely genetics of severe dyslipidemia in a di...
Tackling the molecular basis of lipid metabolism : from candidate genes testing...
Rossi, NiccolòDyslipidemia, broadly defined as an unhealthy deviation of plasma lipid levels, is a well-known heritable risk factor for cardiovascular diseases (CVD), the first cause of death worldwide. Uncovering the genetic basis of p lasma lipids is, therefore, fundamental for CVD prevention and treatment. In this work, I tackled dyslipidemia from two different perspectives, namely genetics of severe dyslipidemia in a dis...
Lipid traits and whole genome sequencing association studies
Rossi, Niccolò; Bourbon, Mafalda; Falchi, MarioBackground: 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 ...
Network analysis approach to find new candidate genes and pathways involved in ...
Rossi, Niccolò; Bourbon, MafaldaStill 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 lack of a genetic diagnosis. Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease. Interesting hits will ...
Identifcation and characterization of the cause of lipid metabolism disruption ...
Rossi, Niccolò; Bourbon, MafaldaObjectives: The main objective of my work is to fill the gap existing between clinical and genetic diagnosis of dyslipidemia disorders and to get a deeper insight into its variability of expression through NGS, microRNA (miRNA) profiling and omic data integration approaches. Familial hypercholesterolemia (FH) is still largely underdiagnosed and undertreated: this work could greatly contribute to the early and d...