Aim: The aim of the study was to explore the effects of variants at HMGCR-KIF6loci on a range of cardio-metabolic phenotypes. Methods: We analyzed the range of variants within Genetics in Brisighella Health Study and KIF6 genes using an additive genetic model on 18 cardiometabolic phenotypes in a sample of 1645 individuals from the Genetics in Brisighella Health Study and replicated in 10,662 individuals from the Estonian Genome Center University of Tartu. Results: We defined directly the effects of rs3846662:C>A at HMGCR on apoB levels. The analysis also confirmed effects of on low-density lipoprotein-cholesterol and total cholesterol levels. Variants in KIF6 gene did not reveal any associations with cardiometabolic phenotypes. Conclusion: This study highlights effect of HMGCR locus on assay-determined apoB levels, an infrequent measure of blood lipids in large studies.

A meta-analysis of Italian and Estonian individuals shows an effect of common variants in HMGCR on blood apoB levels

Letizia Marullo;Chiara Scapoli;
2019

Abstract

Aim: The aim of the study was to explore the effects of variants at HMGCR-KIF6loci on a range of cardio-metabolic phenotypes. Methods: We analyzed the range of variants within Genetics in Brisighella Health Study and KIF6 genes using an additive genetic model on 18 cardiometabolic phenotypes in a sample of 1645 individuals from the Genetics in Brisighella Health Study and replicated in 10,662 individuals from the Estonian Genome Center University of Tartu. Results: We defined directly the effects of rs3846662:C>A at HMGCR on apoB levels. The analysis also confirmed effects of on low-density lipoprotein-cholesterol and total cholesterol levels. Variants in KIF6 gene did not reveal any associations with cardiometabolic phenotypes. Conclusion: This study highlights effect of HMGCR locus on assay-determined apoB levels, an infrequent measure of blood lipids in large studies.
2019
Rosticci, Martina; Pervjakova, Natalia; Kaakinen, Marika; F Cicero, Arrigo; P Feufer, Arne; Marullo, Letizia; Magi, Reedik; Fischer, Krista; Jiang, Longda; D’Addato, Sergio; Rizzoli, Elisabetta; Massimo, Gianmichele; Giovannini, Marina; Angelini, Sabrina; Hrelia, Patrizia; Scapoli, Chiara; Borghi, Claudio; Prokopenko, Inga
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2392779
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