Abstract P3059: Exploring Genetic Ancestry, Socioeconomic and Acculturation Factors in Hispanic/Latino Hypertrophic Cardiomyopathy Genotype Carriers: Insights from the Hispanic Community Health Study / Study of Latinos (HCHS-SOL)

Abstract

Introduction: Hypertrophic Cardiomyopathy (HCM) is associated with rare sarcomeric variants. Little is known about the profiles of HCM sarcomeric variant carriers in diverse populations, particularly in Hispanic/Latino (H/L) individuals. Methods: We examined whole-genome sequencing data from the Hispanic Community Health Study to evaluate sarcomeric gene variants within a large diverse H/L cohort. HCM variant carriers were identified by the presence of nonsynonymous deleterious variants (category D) in eight sarcomeric genes (MYBPC3, MYH7, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), predicted using the PolyPhen-2 HumDiv model. Acculturation, socioeconomic variables and genetic ancestry proportions were analyzed across HCM variant carrier status, with sampling weights applied to generate weighted means, frequencies, and population estimates. Genetic ancestry was only assessed among genetically unrelated participants. Results: Among 7,724 H/L individuals, HCM variant carriers were more likely to have a less than a high school education (p=0.02) and to report Spanish as their primary language compared to non-carriers (p=0.05). No significant differences were observed for household income, insurance status, employment status, years spent in the US, or nativity. Among 5,760 H/L individuals, HCM carriers had a significantly higher proportion of African ancestry compared to non-carriers (p<.0001). Conclusions: H/L with higher proportions of African ancestry appear to have a higher likelihood of being HCM genotype variant carriers. H/L individuals who were HCM carriers had lower education and were less acculturated, with regards to Spanish as their primary language compared to HCM non-carriers highlighting the importance of increasing access to care and awareness of HCM within at risk populations. Authors: Jorge Silva Enciso and Reniell Iñiguez are co-first authors.