Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos

The Val122Ile variant prevalence varied depending on AA proportions among H/Ls and was seen more commonly among Dominicans, highlighting opportunities for preventative hereditary transthyretin amyloid cardiomyopathy screening.

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Publication Details

Journal
JACC Advances
Published
2025-07-26
DOI
https://doi.org/10.1016/j.jacadv.2025.102034
Primary Topic
Amyloidosis: Diagnosis, Treatment, Outcomes
Type
article
Field-Weighted Citation Impact
0.00

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article

Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos

Sanjiv J. Shah, Humberto Parada, Gregory A. Talavera, Ambarish Pandey et al.
JACC Advances
Amyloidosis: Diagnosis, Treatment, Outcomes
article

Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos

Sanjiv J. Shah, Humberto Parada, Gregory A. Talavera, Ambarish Pandey, Tamar Sofer, Carlos J. Rodríguez, James M. Tauras, Mayank Mohan Kansal, Scott David Solomon, Mathew S. Maurer, Katrina Swett, Bharat Thyagarajan, Priscilla Duran Luciano, Larissa Avilés‐Santa, Martha L. Daviglus, Barry E. Hurwitz, Franklyn Gonzalez
article en

Abstract

The Val122Ile variant prevalence varied depending on AA proportions among H/Ls and was seen more commonly among Dominicans, highlighting opportunities for preventative hereditary transthyretin amyloid cardiomyopathy screening.

JACC AdvancesVol. 4(8)
Northwestern University (US), University of North Carolina at Chapel Hill (US), Cedars-Sinai Medical Center (US), Brigham and Women's Hospital (US), Albert Einstein College of Medicine (US), University of Minnesota (US), Beth Israel Deaconess Medical Center (US), Montefiore Medical Center (US), University of Miami (US), San Diego State University (US), University of Illinois Chicago (US), Southwestern Medical Center (US), National Institute on Minority Health and Health Disparities (US), Southwestern Medical Center (US), Columbia University (US), The University of Texas Southwestern Medical Center (US)
University of Miami, University of North Carolina, Northwestern University, San Diego State University, Albert Einstein College of Medicine, Yeshiva University, University of North Carolina at Chapel Hill, University of California, San Diego, National Heart, Lung, and Blood Institute, National Cancer Institute, National Institute on Minority Health and Health Disparities
Openalex Percentile: Top 84%
Amyloidosis: Diagnosis, Treatment, Outcomes
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