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Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

by Rano B. Alieva, Aleksandr B. Shek, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, U

GIST

by Rano B. Alieva, Aleksandr B. Shek, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva Background Familial hypercholesterolaemia (FH) is an inherited disorder with markedly elevated LDL-C and increased risk of premature atherosclerotic cardiovascular disease, most often caused by pathogenic variants in LDLR and less frequently APOB / PCSK9 (or recessive LDLRAP1 ). FH is commonly assessed using the Dutch Lipid Clinic Network (DLCN) score (definite >8, probable 6–8, possible 3–5). In Uzbekistan, genetic evidence for FH remains limited and largely based on candidate-variant studies, and the diagnostic yield of NGS for monogenic FH in CAD patients is not well defined. Aim For the first time in Uzbekistan and Central Asia, to investigate FH-associated monogenic variants using next-generation sequencing (NGS) and to assess the validity of the DLCN criteria against genetic testing as the diagnostic reference standard in Uzbek patients with CAD and suspected FH.

Clinical Editorial

PLOS ONE (Medicine) published a clinical update in Research Highlights on 09 Jul 2026. The item focuses on Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease. Review the original article for the full source wording and details.

Original source: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0353401