Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries

Alieva, Asiiat; Di Costanzo, Alessia; Gazzotti, Marta; Reutova, Olga; Usova, Elena; Bakaleiko, Viktoria; Arca, Marcello; D'Erasmo, Laura; Pellegatta, Fabio; Galimberti, Federica; Olmastroni, Elena; Catapano, Alberico L; Casula, Manuela

doi:10.1016/j.ejim.2024.01.010

European Journal of Internal Medicine

2024

DOI: 10.1016/j.ejim.2024.01.010

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Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries

Asiiat Alieva,

Alessia Di Costanzo,

Marta Gazzotti

et al.

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2024

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Cited by 3 publications

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Exploring the Landscape of Familial Hypercholesterolemia: Unraveling Genetic Complexity and Clinical Implications

Barkas,

Liberopoulos,

Rizzo

2024

European Journal of Internal Medicine

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Exploring the Landscape of Familial Hypercholesterolemia: Unraveling Genetic Complexity and Clinical Implications

Barkas,

Liberopoulos,

Rizzo

2024

European Journal of Internal Medicine

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Evaluations of metabolic and innate immunity profiles in subjects with familial hypercholesterolemia with or without subclinical atherosclerosis

Bosco,

Di Giacomo Barbagallo,

Di Marco

et al. 2024

European Journal of Internal Medicine

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Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing

Atava,

Briviba,

Nesterovics

et al. 2024

IJMS

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Despite the implementation of next-generation sequencing-based genetic testing on patients with clinical familial hypercholesterolemia (FH), most cases lack complete genetic characterization. We aim to investigate the utility of the polygenic risk score (PRS) in specifying the genetic background of patients from the Latvian Registry of FH (LRFH). We analyzed the whole-genome sequencing (WGS) data of the clinically diagnosed FH patients (n = 339) and controls selected from the Latvian reference population (n = 515). Variant pathogenicity in FH patients was classified according to the ACMG/AMP guidelines. The low-density lipoprotein cholesterol (LDL-C) and lipoprotein (a) (LPA) PRS were calculated based on the WGS data. We identified unique causative variants in 80 (23.6%) of the tested individuals (39 variants in FH genes and 4 variants in phenocopy genes, with 6 variants being novel). The LDL-C PRS was highly discriminative compared to the LPA PRS. Nevertheless, both PRS were able to explain the genetic cause of hypercholesterolemia in 26.3% of the remaining non-monogenic patients. The combined genetic analysis of monogenic and polygenic hypercholesterolemia resulted in 43.7% genetically explained hypercholesterolemia cases. Even though the application of PRS alone does not exclude monogenic testing in clinical FH patients, it is a valuable tool for diagnosis specification.

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Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries

Cited by 3 publications

References 40 publications

Exploring the Landscape of Familial Hypercholesterolemia: Unraveling Genetic Complexity and Clinical Implications

Exploring the Landscape of Familial Hypercholesterolemia: Unraveling Genetic Complexity and Clinical Implications

Evaluations of metabolic and innate immunity profiles in subjects with familial hypercholesterolemia with or without subclinical atherosclerosis

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing

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