Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
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- 作者：Barbara Sjouke ; MDa ; b.sjouke@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author ; Michael W.T. Tanck ; PhDb ; Sigrid W. Fouchier ; PhDa ; c ; d ; Joep C. Defesche ; PhDc ; Barbara A. Hutten ; PhDb ; Albert Wiegman ; MD ; PhDe ; John J.P. Kastelein ; MD ; PhDa ; G. Kees Hovingh ; MD ; PhDa
- 关键词：Familial hypercholesterolemia ; Polygenic hypercholesterolemia ; Genetic risk scores
- 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：851-859
- 全文大小：453 K
文摘
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We studied whether FH children without mutation have polygenic hypercholesterolemia.
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Weighted effects of LDL-C raising SNPs were expressed as genetic risk scores (GRS).
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Children with FH and without mutation in LDLR, APOB, or PCSK9 were included.
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GRS of children and first-degree relatives with or without hypercholesterolemia were compared.
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GRS could not be used as tool to diagnose patients with polygenic hypercholesterolemia.