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高脂血症的多基因性质:对定义、诊断和管理的影响。

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

机构信息

Department of Medicine, Western University, London, ON, Canada.

Irving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA.

出版信息

Lancet Diabetes Endocrinol. 2014 Aug;2(8):655-66. doi: 10.1016/S2213-8587(13)70191-8. Epub 2013 Dec 23.


DOI:10.1016/S2213-8587(13)70191-8
PMID:24731657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4201123/
Abstract

Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2-10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk.

摘要

血浆甘油三酯浓度是循环甘油三酯丰富的脂蛋白及其代谢残基的生物标志物。常见的轻度至中度高甘油三酯血症通常是多基因的,是由 30 多个基因中常见和罕见变异的累积负担引起的,这可以通过遗传风险评分来衡量。罕见的常染色体隐性单基因高甘油三酯血症可能是由六种不同基因中的大效应突变引起的。非遗传因素会使高甘油三酯血症恶化。基于最近的遗传数据,我们将该疾病重新定义为两种状态:严重(甘油三酯浓度>10mmol/L),更有可能是由单基因引起的;和轻度至中度(甘油三酯浓度 2-10mmol/L)。由于易感等位基因和家族中的次要因素的聚类,对家庭成员进行生化筛查和咨询是必不可少的,但常规基因检测是没有必要的。治疗包括生活方式和次要因素的管理,以及药物治疗。在严重的高甘油三酯血症中,由于胰腺炎的风险,需要进行干预;在轻度至中度高甘油三酯血症中,可根据甘油三酯浓度、伴发的脂蛋白异常和总体心血管风险,决定是否进行干预以预防心血管疾病。

相似文献

[1]
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

Lancet Diabetes Endocrinol. 2013-12-23

[2]
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[3]
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[4]
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[5]
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[6]
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[7]
Postprandial Hypertriglyceridaemia Revisited in the Era of Non-Fasting Lipid Profile Testing: A 2019 Expert Panel Statement, Narrative Review.

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[8]
[How I study hypertriglyceridemia].

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[9]
The polygenic nature of mild-to-moderate hypertriglyceridemia.

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[10]
Hypertriglyceridemia in the genomic era: a new paradigm.

Endocr Rev. 2015-1-2

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[2]
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[3]
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Am J Cardiovasc Drugs. 2025-7-12

[4]
Steatotic liver disease interacts with a polygenic risk score for triglyceride clearance to impact the risk of hypertriglyceridaemia: The Maastricht Study.

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[5]
Low awareness of lipid disorders amongst individuals despite their high prevalence.

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[6]
Recognition and management of persistent chylomicronemia: A joint expert clinical consensus by the National Lipid Association and the American Society for Preventive Cardiology.

Am J Prev Cardiol. 2025-3-28

[7]
A case of familial hypertriglyceridemia associated with a novel heterozygous AGPAT2 mutation.

Ann Med Surg (Lond). 2025-3-19

[8]
Association of the thyroid hormone sensitivity index with triglycerides in adolescents: a cross-sectional study.

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[9]
The interaction between circadian syndrome and genetic susceptibility in the risk of incident dementia: A longitudinal cohort study.

J Prev Alzheimers Dis. 2025-5

[10]
Identification of tacrolimus-related genes in familial combined hyperlipidemia and development of a diagnostic model using bioinformatics analysis.

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本文引用的文献

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