The following is a summary of “PREVALENCE OF DISEASE-ASSOCIATED CARDIOMYOPATHY GENE VARIANTS IN ETHNIC MINORITIES WITH ATRIAL FIBRILLATION,” published in the 2023 Mar issue of Cardiology by Hill, et al.
For a study, researchers sought to determine the prevalence of pathogenic/likely pathogenic (P/LP) cardiomyopathy (CM) gene variants in African-American (AA) and Hispanic-LatinX (HL) individuals with atrial fibrillation (AF) and compare the results to Caucasians. It was known that while AA and HL individuals experience a lower prevalence of AF than Caucasians, they also experience poorer clinical outcomes. However, the prevalence of P/LP CM gene variants in ethnic minorities with AF has not been investigated thoroughly.
To achieve it, they conducted whole exome sequencing on 305 predominantly AA/HL individuals with AF at the University of Illinois Health and Jesse Brown VA Medical Center. They focused on 22 candidate genes strongly associated with CM and selected variants with appropriate read depths (≥ x20) while excluding multiallelic calls and genotype quality scores ≥20. Pathogenicity was determined by applying guideline-based criteria from the American College of Medical Genetics.
The results showed that out of 305 patients (mean age 60 ± 14 years, 50% male, 65% AA, 34% HL), 12 (3.9%) carried P/LP variants in CM genes. It was also observed that compared to patients without P/LP variants, those with P/LP variants had lower rates of hypertension (58% vs 85%, P=0.012) and higher rates of congestive heart failure (75% vs 37%, P=0.008).
The study revealed that disease-associated CM gene variants were found in 3.9% of AA/HL individuals with AF. The findings provided valuable insight into the role of genetics in explaining differential AF prevalence and outcomes across race ethnicity.