Publications by authors named "J Y Renta"
High on-treatment platelet reactivity (HTPR) with clopidogrel predicts ischemic events in adults with coronary artery disease, and while HTPR varies by ethnicity, no genome-wide association study (GWAS) of clopidogrel response has been conducted in Caribbean Hispanics. This study aimed to identify genetic predictors of HTPR in a cohort of 511 Puerto Rican cardiovascular patients treated with clopidogrel, stratified by P2Y12 reaction units (PRU) into responders and non-responders (HTPR). Local ancestry inference (LAI) and traditional GWAS identified variants in the CYP2C19 region associated with HTPR, primarily in individuals with European ancestry.
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- Clopidogrel is a medication aimed at reducing heart-related issues but its effectiveness among Caribbean Hispanics has not been widely studied.
- This research focused on the enzyme paraoxonase-1 (PON1) as a potential indicator of how well patients respond to clopidogrel and the severity of cardiovascular disease in this demographic.
- The study found that patients resistant to clopidogrel had significantly lower PON1 activity compared to controls, indicating that PON1 could serve as a useful biomarker for assessing cardiovascular health in Caribbean Hispanic patients.
Article Synopsis
- The study aimed to determine if selecting oral antiplatelet drugs based on a patient's genotype using a clinical decision support algorithm can lower the rate of major adverse cardiovascular and cerebrovascular events among Caribbean Hispanic patients following treatment.
- Conducted as an open-label, multicenter, non-randomized trial across eight hospitals in Puerto Rico, it involved 300 patients who received percutaneous coronary intervention and were divided into standard-of-care and genotype-guided groups.
- Results indicated that although the genotype-guided group had a lower risk of major adverse events compared to the standard group (8.7% vs 10.7%), the difference was not statistically significant.
Article Synopsis
- Albinism is a condition with varying degrees of pigmentation loss in skin, hair, and eyes, and one form, Hermansky-Pudlak syndrome (HPS), also includes bleeding issues due to defective platelets.
- A case study on Puerto Rican siblings with albinism revealed they did not possess the typical HPS gene mutations, prompting further genetic analysis.
- The siblings were found to have multiple variants in the Tyrosinase gene, leading to a diagnosis of Oculocutaneous Albinism type 1B (OCA1B), highlighting the need for molecular testing in rare genetic disorders.
Background: After percutaneous coronary intervention (PCI), clopidogrel resistant patients are at an increased risk of major adverse cardiovascular and cerebrovascular events (MACCEs). We aimed to assess whether genotype-guided selection of oral antiplatelet drugs using a clinical decision support (CDS) algorithm reduces the occurrence of these ischemic events and improves outcomes among Caribbean Hispanic patients from Puerto Rico, who are underrepresented in clinical pharmacogenomic (PGx)-guided implementation studies.
Methods: Individual platelet function testing (PRU) measures, *2 and rs662 genotypes, clinical and demographic data from 8 medical facilities were included.