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Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia

Abstract Heterozygous familial hypercholesterolemia (FH), a monogenic cause for premature coronary artery disease (CAD) is often underdiagnosed. In individuals who meet the FH diagnostic criteria and lack pathogenic variants, polygenic factors are recognized as potential contributors. This study aim...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Nithya Abraham, Praveen V P, Usha Menon, Nisha Bhavani, Vasantha Nair, Marta Futema, Renjitha Bhaskaran, Ramesh Menon, Sarita Sekhar, Sajitha Krishnan, Harish Kumar, Devaki R. Nair
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Portfolio 2026-02-01
Schriftenreihe:Scientific Reports
Schlagworte:
Familial hypercholesterolemia
Monogenic
Variant
Polygenic
LDL- PRS
India
Online-Zugang:https://doi.org/10.1038/s41598-026-40367-z
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