Genetics of Dyslipidemia

García-Giustiniani, Diego; Stein, Ricardo

doi:10.5935/abc.20160074

Cited by 27 publications

(25 citation statements)

References 28 publications

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“…Collectively, data from 70 independent GWAS with sample sizes ranging from ten thousand to several hundred thousand participants have identified associations of traditional lipid levels with 500 single nucleotide polymorphism (SNPs) in 167 loci that explain up to 40% of individual variance in these traditional lipid measures ( Matey-Hernandez et al, 2018 ). This number suggests that LDL, HDL, total cholesterol and triglyceride levels undergo a substantial degree of genetic regulation, but also highlights that much of the lipid variance is still unaccounted for, possibly related to rare variants or environmental factors ( Matey-Hernandez et al, 2018 ; García-Giustiniani and Stein, 2016 ).…”

Section: Introductionmentioning

confidence: 99%

Genetic and environmental determinants of variation in the plasma lipidome of older Australian twins

Wong

Thalamuthu

Braidy

et al. 2020

eLife

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The critical role of blood lipids in a broad range of health and disease states is well recognised but less explored is the interplay of genetics and environment within the broader blood lipidome. We examined heritability of the plasma lipidome among healthy older-aged twins (75 monozygotic/55 dizygotic pairs) enrolled in the Older Australian Twins Study (OATS) and explored corresponding gene expression and DNA methylation associations. 27/209 lipids (13.3%) detected by liquid chromatography-coupled mass spectrometry (LC-MS) were significantly heritable under the classical ACE twin model (h2 = 0.28–0.59), which included ceramides (Cer) and triglycerides (TG). Relative to non-significantly heritable TGs, heritable TGs had a greater number of associations with gene transcripts, not directly associated with lipid metabolism, but with immune function, signalling and transcriptional regulation. Genome-wide average DNA methylation (GWAM) levels accounted for variability in some non-heritable lipids. We reveal a complex interplay of genetic and environmental influences on the ageing plasma lipidome.

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Section: Introductionmentioning

confidence: 99%

Genetic and environmental determinants of variation in the plasma lipidome of older Australian twins

Wong

Thalamuthu

Braidy

et al. 2020

eLife

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“…Investigating genetic associations with LDL-cholesterol levels among sub-Saharan Africans is the focus of this study. LDL-cholesterol levels have a multifactorial aetiology, where environmental factors and variants in many different genes contribute to determining levels of LDLcholesterol [6,7]. We aimed at selecting variants potentially associated with LDL-cholesterol levels.…”

Section: Introductionmentioning

confidence: 99%

Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations

et al. 2020

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Non-communicable diseases, including cardiovascular diseases (CVDs), are increasing in African populations. High serum low density lipoprotein cholesterol (LDL-cholesterol) levels are a known risk factor for CVDs in European populations, but the link remains poorly understood among Africans. This study investigated the associations between serum LDL-cholesterol levels and selected variants in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9) and low density lipoprotein receptor adaptor protein 1 (LDLRAP1) genes in some selected African populations. Nineteen SNPs were selected from publicly available African whole genome sequence data based on functional prediction and allele frequency. SNPs were genotyped in 1000 participants from the AWI-Gen, study selected from the extremes of LDL-cholesterol level distribution (500 with LDL-cholesterol>3.5 mmol/L and 500 with LDL-cholesterol<1.1 mmol/L). The minor alleles at five of the six associated SNPs were significantly associated (P<0.

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“…Nem sempre o fenótipo das dislipidemias mostra-se claro, mesmo com exames complementares, dificultando o diagnóstico precoce e a conduta apropriada. 15 A associação de estatina (alta potência) e ciprofibrato alcançou o objetivo esperado, haja vista os resultados laboratoriais e a cicatrização dos xantomas. Caso não fossem alcançadas as metas de lipoproteína de baixa densidade (LDL-c), a associação de estatina com inibidores de pró-proteína convertase subtilisina/kexina tipo 9 (PCSK9) ou ezetimiba seria uma opção, assim como ômega-3, em conjunto com fibrato, para redução da hipertrigliceridemia.…”

Section: Discussionunclassified

Achado Incomum de Rara e Exuberante Xantomatose em Caso de Hiperlipidemia

Manfredini¹,

Alves²

2021

Arquivos Brasileiros De Cardiologia

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Genetics of Dyslipidemia

Cited by 27 publications

References 28 publications

Genetic and environmental determinants of variation in the plasma lipidome of older Australian twins

Genetic and environmental determinants of variation in the plasma lipidome of older Australian twins

Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations

Achado Incomum de Rara e Exuberante Xantomatose em Caso de Hiperlipidemia

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