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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...

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Sparad:
Huvudupphov: 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
Materialtyp: Artigo
Språk:Inglês
Utgiven: Nature Portfolio 2026-02-01
Serie:Scientific Reports
Ämnen:
Familial hypercholesterolemia
Monogenic
Variant
Polygenic
LDL- PRS
India
Länkar:https://doi.org/10.1038/s41598-026-40367-z
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