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Insight on the Genetics of Atrial Fibrillation in Puerto Rican Hispanics.

Ariel F Gonzalez-Cordero1, Jorge Duconge-Soler2, Hilton Franqui-Rivera1

  • 1Department of Medicine, Cardiovascular Disease Division, University of Puerto Rico, San Juan 00936, Puerto Rico, USA.

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Summary

This study investigated the atrial fibrillation paradox in Puerto Rican Hispanics, identifying specific genetic markers and Native American admixture as key factors influencing AF susceptibility. These findings offer new insights into the mechanisms of atrial fibrillation in this population.

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Area of Science:

  • Cardiovascular Genetics
  • Population Health
  • Genomics

Background:

  • Non-Hispanic whites exhibit higher atrial fibrillation (AF) prevalence than racial minorities in the USA.
  • Puerto Rican Hispanics show a lower AF prevalence despite having more traditional risk factors, a phenomenon termed the atrial fibrillation paradox.
  • The pathogenesis of AF remains incompletely understood, particularly in diverse populations.

Purpose of the Study:

  • To investigate the genetic underpinnings of the atrial fibrillation paradox in Puerto Rican Hispanics.
  • To compare genetic data from Puerto Rican Hispanics with known AF-associated single nucleotide polymorphisms (SNPs) from European cohorts.
  • To identify genetic variants and population-specific factors associated with AF susceptibility in Puerto Rican Hispanics.

Main Methods:

  • Secondary analysis of two existing studies: 'The Pharmacogenetics of Warfarin in Puerto Ricans' and 'A Genomic Approach for Clopidogrel in Caribbean Hispanics'.
  • Comparison of a Puerto Rican Hispanic genetic dataset against 111 AF-associated SNPs identified in a large European cohort.
  • Utilized data from 555 cardiovascular patients (69 AF cases, 486 controls) and employed machine learning analysis.

Main Results:

  • Five specific SNPs (rs2834618, rs6462079, rs7508, rs2040862, rs10458660) showed significant association with AF in the Puerto Rican Hispanic cohort.
  • Some associated SNPs relate to lysosomal activity and collagen deposition in atrial cardiomyocytes.
  • Machine learning identified Native American admixture and heart failure as strong predictors of AF in this population.

Conclusions:

  • This study provides novel genetic insights into atrial fibrillation mechanisms within a Puerto Rican Hispanic cohort.
  • Identified genetic variants and population admixture contribute to understanding the atrial fibrillation paradox.
  • Findings highlight the importance of considering genetic diversity and population-specific factors in AF research.