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American Heart Association

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Final ID: 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 Body: 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.
  • Iniguez, Reniell  ( Northwestern , Chicago , Illinois , United States )
  • Hurwitz, Barry  ( UNIVERSITY OF MIAMI , Miami , Florida , United States )
  • Shah, Sanjiv  ( NORTHWESTERN UNIVERSITY , Chicago , Illinois , United States )
  • Shook-sa, Bonnie  ( University of North Carolina, Chapel Hill , Chapel Hill , North Carolina , United States )
  • Kansal, Mayank  ( University of Illinois at Chicago , Chicago , Illinois , United States )
  • Garcia, Mario  ( MONTEFIORE MED CTR , Bronx , New York , United States )
  • Solomon, Scott  ( BRIGHAM AND WOMENS HOSPITAL , Boston , Massachusetts , United States )
  • Cheng, Susan  ( Cedars-Sinai Medical Center , Los Angeles , California , United States )
  • Rodriguez, Carlos  ( Albert Einstein School of Medicine , Bronx , New York , United States )
  • Silva Enciso, Jorge  ( UCSD , La Jolla , California , United States )
  • Moon, Jee-young  ( Albert Einstein College of Medicine , Bronx , New York , United States )
  • Yuan, Yawen  ( Albert Einstein School of Medicine , Bronx , New York , United States )
  • Sofer, Tamar  ( Beth Israel Deaconess Medical Cente , Boston , Massachusetts , United States )
  • Duran Luciano, Priscilla  ( Albert Einstein College of Medicine , Bronx , New York , United States )
  • Kaplan, Robert  ( Albert Einstein College of Medicine , Bronx , New York , United States )
  • Talavera, Gregory  ( SAN DIEGO STATE UNIVERSITY , Chula Vista , California , United States )
  • Daviglus, Martha  ( UNIVERSITY ILLINOIS CHICAGO , Chicago , Illinois , United States )
  • Author Disclosures:
    Reniell Iniguez: DO NOT have relevant financial relationships | Barry Hurwitz: DO NOT have relevant financial relationships | Sanjiv Shah: DO NOT have relevant financial relationships | Bonnie Shook-Sa: No Answer | Mayank Kansal: DO NOT have relevant financial relationships | Mario Garcia: DO NOT have relevant financial relationships | Scott Solomon: No Answer | Susan Cheng: DO have relevant financial relationships ; Consultant:UCB:Active (exists now) | Carlos Rodriguez: No Answer | Jorge Silva Enciso: No Answer | Jee-young Moon: DO NOT have relevant financial relationships | Yawen Yuan: No Answer | Tamar Sofer: DO NOT have relevant financial relationships | Priscilla Duran Luciano: DO NOT have relevant financial relationships | Robert Kaplan: No Answer | Gregory Talavera: No Answer | Martha Daviglus: DO NOT have relevant financial relationships
Meeting Info:
Session Info:

PS03.05 Health Equity and Social Justice 2

Saturday, 03/08/2025 , 05:00PM - 07:00PM

Poster Session

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