作者
Elina Nikkola, Arthur Ko, Marcus Alvarez, Rita M Cantor, Kristina Garske, Elliot Kim, Stephanie Gee, Alejandra Rodriguez, Reinhard Muxel, Niina Matikainen, Sanni Söderlund, Mahdi M Motazacker, Jan Borén, Claudia Lamina, Florian Kronenberg, Wolfgang J Schneider, Aarno Palotie, Markku Laakso, Marja-Riitta Taskinen, Päivi Pajukanta
发表日期
2017/9/1
期刊
Atherosclerosis
卷号
264
页码范围
58-66
出版商
Elsevier
简介
Background and aims
Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41–0.50). However, a large part of this heritability cannot be explained by the variants identified in recent extensive genome-wide association studies (GWAS) on lipids. Our aim was to find genetic causes leading to high LDL-C levels and ultimately CVD in a large Austrian family presenting with what appears to be autosomal dominant inheritance for familial hypercholesterolemia (FH).
Methods
We utilized linkage analysis followed by whole-exome sequencing and genetic risk score analysis using an Austrian multi-generational family with various dyslipidemias, including elevated TC and LDL-C, and one family branch with elevated lipoprotein (a) (Lp(a)).
Results
We did not find evidence for …
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E Nikkola, A Ko, M Alvarez, RM Cantor, K Garske… - Atherosclerosis, 2017