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Article

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

Scientific reports - 28 Feb 2026

Abraham Nithya, P Praveen V, Menon Usha, Bhavani Nisha, Nair Vasantha, Futema Marta, Bhaskaran Renjitha, Menon Ramesh, Sekhar Sarita, Krishnan Sajitha, Kumar Harish, Nair Devaki R

Abstract excerpt

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 aimed to characterize the spectrum of genetic variants and determine the low-density lipoprotein polygenic risk score (LDL-PRS)...

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Topics

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Share to Cholesterol, LDL
Share to Coronary Artery Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Risk Score

Share to Hyperlipoproteinemia Type II

Share to Multifactorial Inheritance

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 41764281
DOI: 10.1038/s41598-026-40367-z
PMCID: PMC13057239

Genes

FH
CAD
ABCG5
ABCG8
APOE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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