Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia
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- 作者：Isabel De Castro-Oró ; s ; PhD<sup>asup><sup> ; sup><sup>bsup><sup> ; sup><sup>isadco@gmail.com" class="auth_mail" title="E-mail the corresponding authorsup> ; Fernando Civeira ; MD ; PhD<sup>asup> ; Marí ; a Jesú ; s Pueyo<sup>bsup> ; Rocí ; o Mateo-Gallego ; PhD<sup>asup> ; Alfonso Bolado-Carrancio ; PhD<sup>csup> ; Itziar Lamí ; quiz-Moneo ; MSc<sup>asup> ; Luis Á ; lvarez-Sala ; MD ; PhD<sup>dsup> ; Fernando Fabiani ; MD ; PhD<sup>esup> ; Montserrat Cofá ; n ; PhD<sup>fsup> ; Ana Cenarro ; PhD<sup>asup> ; José ; Carlos Rodrí ; guez-Rey ; PhD<sup>csup> ; Emilio Ros ; MD ; PhD<sup>fsup> ; Miguel Pocoví ; PhD<sup>bsup>
- 关键词：Hypertriglyceridemia ; Mutation ; LMF1 ; APOA5 ; LPL ; GPIHBP1
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：July-August 2016
- 年：2016
- 卷：10
- 期：4
- 页码：790-797
- 全文大小：457 K
文摘
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Subjects with familial and nonfamilial primary HTG were assessed for rare mutations.
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In 118 subjects, 29 rare variants were identified; 7/10 novel ones were pathogenic.
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We studied LPL, APOA5, LMF1, and GPIHBP1 variants in silico and in vitro.
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Less than 20% carry a rare pathogenic mutation in LPL, APOA5, LMF1, or GPIHBP1.
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No clinical information associates with a higher frequency of pathogenic mutations.