STAP1 Variant Association with Lipid Profiles

To analyze the association of lipid parameters with carrier status of rare STAP1 variants, we defined 20 participants of the Cooperative Health Research in South Tyrol (CHRIS) study carrying rare STAP1 variants (ExAC minor allele frequency, MAF < 0.002) that were predicted to be disease-causing by MutationTaster as carriers. Further 100 participants of the CHRIS study were randomly selected as controls, i.e. non-carriers. Genetic analyses in this cohort were previously performed using Illumina HumanOmniExpressExome Bead Chip, which includes ~250,000 exonic variants^{25 (link)}.

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Danyel M., Ott C.E., Grenkowitz T., Salewsky B., Hicks A.A., Fuchsberger C., Steinhagen-Thiessen E., Bobbert T., Kassner U, & Demuth I. (2019). Evaluation of the role of STAP1 in Familial Hypercholesterolemia. Scientific Reports, 9, 11995.

Publication 2019

HumanOmniExpressExome Bead Chip

Chip Exonic Health participants Lipid

Corresponding Organization : Berlin Institute of Health at Charité - Universitätsmedizin Berlin

Other organizations : Humboldt-Universität zu Berlin, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Institute for Biomedicine, Eurac Research

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Variable analysis

independent variables

Carrier status of rare STAP1 variants

dependent variables

Lipid parameters

control variables

Participants randomly selected as non-carriers (controls)

controls

Positive control: 20 participants carrying rare STAP1 variants
Negative control: 100 participants randomly selected as non-carriers

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