Evidence map›Paper›PMID 41564389›Full record

ArticleBiomolecules & biomedicine2026

Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.

Mohammad Fahad Ullah, Rashid Mir, Jamsheed Javid, Imadeldin Elfaki, Faisal H Altemani, Jameel Barnawi, Naseh A Algehainy, Mohammed M Jalal, Malik A Altayar, Salem Owaid Albalawi and 5 more

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Article in Biomolecules & biomedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Mohammad Fahad UllahDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Rashid MirDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia; Prince Fahad Bin Sultan Chair for Biomedical Research, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Jamsheed JavidDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Imadeldin ElfakiDepartment of Biochemistry, Faculty of Science, University of Tabuk, Tabuk, Saudi Arabia.
Faisal H AltemaniDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Jameel BarnawiDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Naseh A AlgehainyDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Mohammed M JalalDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Malik A AltayarDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Salem Owaid AlbalawiDepartment of Cardiology, King Fahd Specialist Hospital, Tabuk, Saudi Arabia.
Syed Khalid MustafaDepartment of Chemistry, Faculty of Science, University of Tabuk, Tabuk, Saudi Arabia.
Aadil YousifDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Eram HusainDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Faris J TayebDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Faisel M AbuDuhierDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Coronary artery disease (CAD) represents a complex interplay of genetic, environmental, and lifestyle factors. In this study, we utilized whole-exome sequencing (WES) on 28 patients with obstructive CAD to identify rare variants that may influence clinical outcomes beyond conventional atherosclerotic risk. We examined 74 genes curated from the Genomics England PanelApp, focusing on familial hypercholesterolemia (FH), cardiac arrhythmias (CA), and pulmonary arterial hypertension (PAH), ultimately detecting 8,251 variants. After applying a stringent filtering process with a population maximum allele frequency (PopMax AF) threshold of <0.1%, we identified 68 candidate variants across 23 genes. The majority were associated with CA (47/68, 69%), followed by PAH (12/68, 18%) and FH (9/68, 13%). Notably, 30 variants (44%) were novel, and 18 were categorized as high-impact frameshift mutations. The highest burden of candidate variants was found in the sodium voltage-gated channel alpha subunit 10 (SCN10A), followed by the ryanodine receptor 2 (RYR2), mitochondrial seryl-tRNA synthetase 2 (SARS2), A-kinase anchoring protein 9 (AKAP9), and hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4). Clinical evaluation revealed a pathogenic variant in the low-density lipoprotein receptor (LDLR) and likely pathogenic variants in sodium voltage-gated channel alpha subunit 5 (SCN5A) and potassium voltage-gated channel subfamily Q member 1 (KCNQ1); additionally, nine other variants were predicted to be deleterious, including five novel SCN10A variants. Functional annotation using Gene Ontology (GO) and Human Phenotype Ontology (HPO) highlighted mechanisms impacting cardiac structure, electrical conduction, and lipid homeostasis.

Indexed as

Arrhythmias, CardiacCoronary Artery DiseaseExome SequencingHypertension, PulmonaryAgedFemaleGenetic Predisposition to DiseaseGenetic VariationHumansMaleMiddle Aged

Identifiers

PMID41564389
PMCPMC13021037

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.