The aim of the study was to explore the effects of variants at 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) and kinesin family member 6 (KIF6) loci 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

Rosticci, Martina;Cicero, Arrigo F;D'Addato, Sergio;RIZZOLI, ELISABETTA;MASSIMO, GIANMICHELE;Giovannini, Marina;Angelini, Sabrina;Hrelia, Patrizia;Borghi, Claudio;
2019

Abstract

The aim of the study was to explore the effects of variants at 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) and kinesin family member 6 (KIF6) loci 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.
BIOMARKERS IN MEDICINE
Rosticci, Martina; Pervjakova, Natalia; Kaakinen, Marika; Cicero, Arrigo F; Feufer, Arne P; Marullo, Letizia; Mägi, 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: http://hdl.handle.net/11585/668189
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