rs111251122 - CSGALNACT1 - INTS10

Magnitude 2.2 · 1 study on file

Reported associations

• Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia. - Atherosclerosis (2022) · Trinder M, Vikulova D, Pimstone S, Mancini GBJ, Brunham LR · PubMed 34906840

  Familial combined hyperlipidemia (FCHL) is one of the most common inherited lipid phenotypes, characterized by elevated plasma concentrations of apolipoprotein B-100 and triglycerides. The genetic inheritance of FCHL remains poorly understood. The goals of this study were to investigate the polygenetic architecture and cardiovascular risk associated with FCHL. We identified individuals with an FCHL phenotype among 349,222 unrelated participants of European ancestry in the UK Biobank using modified versions of 5 different diagnostic criteria. The prevalence of the FCHL phenotype was 11.44% (n = 39,961), 5.01% (n = 17,485), 1.48% (n = 5,153), 1.10% (n = 3,838), and 0.48% (n = 1,688) according to modified versions of the Consensus Conference, Dutch, Mexico, Brunzell, and Goldstein c

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