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

Author:

Rosticci Martina1,Pervjakova Natalia234,Kaakinen Marika45,Cicero Arrigo F1,Feufer Arne P6,Marullo Letizia7,Mägi Reedik2,Fischer Krista2,Jiang Longda4,D'Addato Sergio1,Rizzoli Elisabetta1,Massimo Gianmichele8,Giovannini Marina1,Angelini Sabrina8,Hrelia Patrizia8,Scapoli Chiara7,Borghi Claudio1,Prokopenko Inga4

Affiliation:

1. Medicine & Surgery Sciences Department, Alma Mater Studiorum University of Bologna, Bologna, Italy

2. Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia

3. Department of Biotechnology, Institute of Molecular & Cell Biology, University of Tartu, Tartu, Estonia

4. Genomics of Common Disease, Division of Diabetes, Endocrinology & Metabolism, Department of Medicine, Imperial College London, London, UK

5. Pharmacology & Therapeutics, Division of Experimental Medicine, Department of Medicine, Imperial College London, London, UK

6. Institute of Bioinformatics & Systems Biology, Helmholtz Zentrum München, München, Germany

7. Department of Life Sciences & Biotechnology, University of Ferrara, Ferrara, Italy

8. Department of Pharmacy & Biotechnology, Alma Mater Studiorum University of Bologna, Italy

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.

Publisher

Future Medicine Ltd

Subject

Biochemistry (medical),Clinical Biochemistry,Drug Discovery

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