Identification of Genetic Variants Associated With Myocardial Infarction in Saudi Arabia

Area of Science:

• Genetics
• Cardiovascular Disease Research
• Population Health

Background:

• Genetic variants contributing to various disorders remain underexplored in Saudi Arabia.
• Six specific single nucleotide polymorphisms (SNPs) associated with coronary artery disease or myocardial infarction (MI) were selected for investigation.
• These SNPs include rs5174 (LRP8), rs11591147 (PCSK9), rs2259816 (HNF1A), rs111245230 (SVEP1), rs3782886 (BRAP), and rs2259820 (HNF1A).

Purpose of the Study:

• To identify and analyze the frequency of specific genetic variants associated with myocardial infarction (MI) in the Saudi population.
• To evaluate the potential of these variants as predictive risk factors for MI in Saudi individuals.
• To assess the association between selected SNPs and the risk of developing MI.

Main Methods:

• Utilized a polymerase chain reaction (PCR) panel combined with mini-sequencing (SNapShot multiplex system) for variant identification.
• Analyzed allele frequencies of six reference SNPs in 100 MI patients and 103 healthy Saudi controls.
• Investigated the genetic variants rs5174, rs11591147, rs2259816, rs111245230, rs3782886, and rs2259820.

Main Results:

• The A allele of the rs11591147 variant demonstrated a protective effect, correlating with a reduced risk of MI in the Saudi cohort.
• The rare allele (C) of the rs111245230 variant was found to be extremely infrequent in the study population.
• The rare allele (G) of the rs3782886 variant was absent in the Saudi population's ethnic profile.

Conclusions:

• The study identified a specific genetic variant (rs11591147) potentially offering protection against myocardial infarction in Saudi individuals.
• The genetic landscape of MI risk in the Saudi population shows unique characteristics, with certain rare alleles being absent or infrequent.
• The SNapShot multiplex system is effective for predicting risk factors associated with severe diseases in specific ethnic groups like the Saudi population.