Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol.
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ABSTRACT: Sitosterolemia is a rare inherited disorder caused by mutations in the ABCG5/ABCG8 genes. These genes encode proteins involved in the transport of plant sterols. Mutations in these genes lead to decreased excretion of phytosterols, which can accumulate in the body and lead to a variety of health problems, including premature coronary artery disease. We conducted the first genome-wide association study (GWAS) in the Middle East/North Africa population to identify genetic determinants of plant sterol levels in Qatari people. GWAS was performed on serum levels of β-sitosterol and campesterol using the Metabolon platform from Qatar Biobank (QBB) and genome sequence data provided by Qatar Genome Program. A trans-ancestry meta-analysis of data from our Qatari cohort with summary statistics from
SUBMITTER: Alenbawi J
PROVIDER: S-EPMC11295598 | biostudies-literature | 2024 Aug
REPOSITORIES: biostudies-literature
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