Fernando Vera-Urbina¹, Jessica Renta-Torres², Jorge Duconge-Soler ³ and Bianca A. Torres-Hernández³

1 University of Puerto Rico at Rio Piedras; Faculty of Natural Sciences

2 University of Puerto Rico; Department of Biochemistry, School of Medicine, Medical Sciences Campus

3 University of Puerto Rico; Department of Pharmaceutical Sciences, School of Pharmacy, Medical Sciences Campus


Introduction: Anxiety and depression are among the most frequent psychiatric conditions affecting Puerto Ricans and contributing to a lower quality of life. More than 500 genes, such as HTR1B, SLC6A4, and BDNF, have been previously associated with the risk of major depressive disorder among individuals suffering from other psychiatric and neurological disorders. The prevalence of anxiety and depressive symptoms differs across various ethnicities, and studies have shown that Puerto Ricans have a higher prevalence than other Hispanics. Although few studies have evaluated actionable polymorphisms in Puerto Rican patients with mental health conditions, one of those studies found a novel allele, CYP2D6*31, in these Puerto Rican patients but not in North American Caucasians or African Americans.

Objective: This study aims to determine the most frequent genetic variants occurring in patients with anxiety and depressive symptoms and their influence on the effectiveness of pharmacological treatments and psychotherapies in these patients. We hypothesized that patients who carrier multiple polymorphisms in neuroplasticity-related genes and other genes such as CYP will have severe symptoms at the time of the diagnostic of anxiety and depression. Also, patients with multiple variants in genes of interest will require longer treatments than those with only a single mutation in these pharmacogenes.

Methods: We are recruiting Puerto Rican patients diagnosed with anxiety and/or depression from the University of Puerto Rico Center for the Study and Treatment of Fear and Anxiety and Psychiatric Department, whose parents and grandparents are Puerto Ricans. Due to COVID-19 protocols, the informed consent form is discussed with the patients through a videoconference. After signing the written informed consent, samples were was collected using buccal swabs and then DNA was extracted using the QIAcube®. Genotyping was performed using the Infinium® Multi-Ethnic AMR/AFR Bead Chip.

Results: Up to now, we have eighteen patients consented with the sample collected. Preliminary analysis (n=8) identified a total of 13,353 variants across the genome associated with anxiety and depression.

From the 13,353 variants, 11,832 variants were unmapped to genes. A CORE analysis was conducted to identify variants associated with anxiety and depression and the pathways related to the variants mapped to genes. In this analysis, 6,186 unique genes were identified for the 13,353 variants mapped across the whole genome, and 643 pathways were identified for these 6,186 unique genes. These genetic data will be evaluated, along with clinical data extracted from health records, to determine if there is an association between symptom severity, treatment response, and the presence of specific genetic variants.

Conclusion: This research project will help us determine what genes and genetic variants are significantly associated with anxiety and depressive symptoms in Puerto Ricans. Also, we will develop a polygenic risk score to predict the likelihood of severe symptoms of anxiety and depression or treatment failure. This score will consider the prevalence and effect size of unique genetic variants present in Puerto Ricans. The results will give us insight into what genes are more relevant to anxiety and depression in our population and thus help guide future research studies.

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