Bases genéticas de las hipertrigliceridemias

IF 1.9 Q3 PERIPHERAL VASCULAR DISEASE
María José Ariza Corbo , Ovidio Muñiz-Grijalvo , Agustín Blanco Echevarría , J.L. Díaz-Díaz
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引用次数: 0

Abstract

The development of massive sequencing techniques and guidelines for assessing the pathogenicity of variants are allowing us the identification of new cases of familial chylomicronemia syndrome (FCS) mostly in the LPL gene, less frequently in GPIHBP1 and APOA5, and with even fewer cases in LMF1 and APOC2. From the included studies, it can be deduced that, in cases with multifactorial chylomicronemia syndrome (MCS), both loss-of-function variants and common variants in canonical genes for FCH contribute to the manifestation of this other form of chylomicronemia. Other common and rare variants in other triglyceride metabolism genes have been identified in MCS patients, although their real impact on the development of severe hypertriglyceridemia is unknown. There may be up to 60 genes involved in triglyceride metabolism, so there is still a long way to go to know whether other genes not discussed in this monograph (MLXIPL, PLTP, TRIB1, PPAR alpha or USF1, for example) are genetic determinants of severe hypertriglyceridemia that need to be taken into account.
高甘油三酯血症的遗传基础。
随着大规模测序技术和变异基因致病性评估指南的发展,我们得以发现新的家族性乳糜微粒血症综合征(FCS)病例,这些病例大多发生在 LPL 基因中,较少发生在 GPIHBP1 和 APOA5 基因中,而发生在 LMF1 和 APOC2 基因中的病例则更少。从所纳入的研究中可以推断出,在多因素乳糜微粒血症综合征(MCS)病例中,FCH 同源基因中的功能缺失变异和常见变异都会导致这种其他形式的乳糜微粒血症。在 MCS 患者中还发现了其他甘油三酯代谢基因中的常见和罕见变异,但它们对严重高甘油三酯血症的真正影响尚不清楚。参与甘油三酯代谢的基因可能多达 60 个,因此,要知道本专著中未讨论的其他基因(如 MLXIPL、PLTP、TRIB1、PPAR alpha 或 USF1)是否是需要考虑的严重高甘油三酯血症的遗传决定因素,还有很长的路要走。
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来源期刊
Clinica e Investigacion en Arteriosclerosis
Clinica e Investigacion en Arteriosclerosis PERIPHERAL VASCULAR DISEASE-
CiteScore
3.20
自引率
6.20%
发文量
44
审稿时长
40 days
期刊介绍: La publicación idónea para acceder tanto a los últimos originales de investigación como a formación médica continuada sobre la arteriosclerosis y su etiología, epidemiología, fisiopatología, diagnóstico y tratamiento. Además, es la publicación oficial de la Sociedad Española de Arteriosclerosis.
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