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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & integrative genomics - 27 Mar 2023

Alkhamis Fahad A, Alabdali Majed M, Alsulaiman Abdulla A, Alamri Abdullah S, Alali Rudaynah, Akhtar Mohammed S, Alsalman Sadiq A, Cyrus Cyril, Albakr Aishah I, Alduhalan Anas S, Gandla Divya, Al-Romaih Khaldoun, Abouelhoda Mohamed, Loza Bao-Li, Keating Brendan, Al-Ali Amein K

Abstract excerpt

Ischemic stroke represents a significant societal burden across the globe. Rare high penetrant monogenic variants and less pathogenic common single nucleotide polymorphisms (SNPs) have been described as being associated with risk of diseases. Genetic studies in Saudi Arabian patients offer a greater opportunity to detect rare high penetrant mutations enriched in these consanguineous populations. We performed...

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PMID: 36973604
DOI: 10.1007/s10142-023-01039-7
PMCID: PMC10042957

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