ArticleFrontiers in genetics2022
The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Putative protective role ofAtherosclerosis plus · 2026Article
- Improving the clinical diagnosis of familial hypercholesterolemia among patients attending diabetes and cardiology clinics.American journal of preventive cardiology · 2026Article
- Cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in a township‑based elderly population.Lipids in health and disease · 2026Article
- Developing count regression techniques for predicting the number of new type 2 diabetes cases in Saudi Arabia.PloS one · 2026Article
- Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.Journal of cardiovascular development and disease · 2025Article
- Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.Frontiers in cell and developmental biology · 2024Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
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Abstract
Familial hypercholesterolemia (FH) is an inherited disease characterized by reduced efficiency of low-density lipoprotein-cholesterol (LDL-C) removal from the blood and, consequently, an increased risk of life-threatening early cardiovascular complications. In Qatar, the prevalence of FH has not been determined and the disease, as in many countries, is largely underdiagnosed. In this study, we combined whole-genome sequencing data from the Qatar Genome Program with deep phenotype data from Qatar Biobank for 14,056 subjects to determine the genetic spectrum and estimate the prevalence of FH in Qatar. We used the Dutch Lipid Clinic Network (DLCN) as a diagnostic tool and scrutinized 11 FH-related genes for known
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