Gabriela Chavarria

• PhD
• Professor (Associate) at University of Costa Rica

Psychiatric disorders are highly heritable and polygenic, influenced by environmental factors and often comorbid. Large-scale genome-wide association studies (GWASs) through consortium efforts have identified genetic risk loci and revealed the underlying biology of psychiatric disorders and traits. However, over 85% of psychiatric GWAS participants...

Psychiatric disorders have a great impact in terms of mortality, morbidity, and disability across the lifespan. Considerable effort has been devoted to understanding their complex and heterogeneous genetic architecture, including diverse ancestry populations. Our aim was to review the psychiatric genetics research published with Latin American popu...

Genome-wide association studies (GWAS) to date have included mainly individuals of European ancestry; this has consequences for the detection of population-specific association signals and applicability of polygenic risk scores. We worked with the 342 linkage-disequilibrium independent significant SNPs identified in the most recent GWAS for schizop...

Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular disease. Unhealthy lifestyles, the pre-existence of diseases, and the accumulation of genetic variants in some loci contribute to the development of dyslipidemia. The genet...

PM20D1 is a little studied enzyme until recently, belonging to the mammalian M20 peptidase family, which catalyzes both the synthesis and hydrolysis of N-acyl amino acids (NAAs). NAAs are bioactive lipids biosynthesized from free fatty acids and free amino acids. These molecules have been associated with many biological functions; however, most of...

Background. The aim of this study is to identify differentially methylated regions (DMRs) in the genomes of a sample of cognitively healthy individuals and a sample of individuals with LOAD, all of them nonagenarians from Costa Rica. Methods. In this study, we compared whole blood DNA methylation profiles of 32 individuals: 21 cognitively healthy a...

Aim We explore attitudes from the public in Costa Rica regarding willingness to donate DNA data for research. Materials & methods A total of 224 Costa Rican individuals answered the anonymous online survey ‘Your DNA, Your Say’. It covers attitudes toward DNA and medical data donation, trust in research professionals and concerns about consequences...

Isolated populations, also called population isolates and genetic isolates, present several characteristic features that make them useful in the study of the genetic basis of both Mendelian and complex disorders. The consensus regarding population isolates is that they have been founded by a small number of individuals, followed by a period of gene...

Background: Imprecision of the psychiatric phenotype might partially explain the failure of genetic research to identify genes that contribute to susceptibility of anxiety disorders. Previous research concluded two underlying constructs, worry and rumination, might explain anxiety sub-syndromic symptoms in Costa Rican patients with history of mania...

Resumen. Durante el primer semestre del 2018 se implementó una nueva estrategia didáctica en un curso de Genética General. Este curso forma parte del plan de estudios de la carrera de Biología en la Universidad de Costa Rica. El objetivo de la intervención fue fomentar la construcción co-laborativa de conocimiento, mediante la creación conjunta de...

Background: Alzheimer's disease (AD) is a complex disorder that results from a combination of genetic and non-genetic risk factors. There are genetic variants that may be protective against the development of dementia at advanced ages. Most epigenetic and non-epigenetics studies of successful cognitive aging have focused on individuals between 65 a...

Un cuarto de siglo de investigación genética en los trastornos neuropsiquiátricos en Costa Rica Abstract: A quarter century of genetic research on neuropsychiatric disorders in Costa Rica. In Costa Rica, the study of the genetic basis of neuropsychiatric disorders started more than 25 years ago. During this time, different research efforts have foc...

Background MicroRNAs (miRNAs) play a vital role in neurodevelopment and neuronal processes by regulating the activity of multiple genes. Noncoding variants in the miR-137 gene locus have been reported to increase the risk of schizophrenia. This microRNA has been shown to be involved in different brain processes necessary for neurogenesis, which is...

Background Genetic studies have been consistent that bipolar disorder type I (BPI) runs in families and that this familial aggregation is strongly influenced by genes. In a preliminary study, we proved that anxiety trait meets endophenotype criteria for BPI. Methods We assessed 619 individuals from the Central Valley of Costa Rica (CVCR) who have...

Durante el primer semestre del 2016 se utilizó el debate en clase como una estrategia de aprendizaje en el curso Genética General. Este curso forma parte del plan de estudios de la carrera de Biología en la Universidad de Costa Rica. El objetivo de la intervención fue fomentar el pensamiento complejo y el desarrollo de competencias profesionales y...

We discovered a potential association of a VNTR upstream of miR-137 with age of onset of schizophrenia

Background: Bipolar disorder type I (BPI) affects approximately 1% of the world population. Although genetic influences on bipolar disorder are well established, identification of genes that predispose to the illness has been difficult. Most genetic studies are based on categorical diagnosis. One strategy to overcome this obstacle is the use of qu...

Absolute pitch is the unusual ability to recognize a pitch without an external reference. The current view is that both environmental and genetic factors are involved in the acquisition of the trait. In the present study, 127 adult musicians were subjected to a musical tone identification test. Subjects were university music students and volunteers...

Although primary congenital glaucoma (PCG)-associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their contribution to the occurrence of POAG is still controversial. The present study was conducted to determine whether heterozygous functionally cha...

To screen cytochrome P4501B1 (CYP1B1) for causative mutations in Omani patients with a clinical diagnosis of primary congenital glaucoma (PCG) METHODS: Nine PCG families were recruited for the study. All patients underwent detailed clinical examinations to confirm the diagnosis of PCG. The families of index patients were also examined. Genealogical...

Primary congenital glaucoma (PCG) is an autosomal recessive disorder caused predominantly by mutations in the CYP1B1 gene. A total of five frequent single nucleotide polymorphisms (SNPs) have been identified in the coding sequence of CYP1B1: rs10012C>G (p.R48G), rs1056827G>T (p.A119S), rs1056836C>G (p.V432L), rs1056837C>T (p.D449D), and rs1800440A>...

Linkage analysis for the primary open angle glaucoma (POAG) family CR-2 from Costa Rica After performing a genome wide scan in the CR-2 family with POAG, two regions with possible linkage were identified in chromosomes 1p22.3 and 14q11.2-q12. However, after clinical reexamination the affected status of 4 persons had to be changed to “unknown”, whic...

Mutations in WDR36 were recently reported in patients with adult-onset primary open-angle glaucoma (POAG). In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of German descent with diverse age of onset and intraocular pressure levels. Recruited were 399 unrelated patients with glaucoma and 376 health...

The study intended to define the underlying genetic defects for 21 index patients affected with different forms of anterior segment dysgenesis. Sequence analysis for the PAX6, PITX2, FOXC1, and CYP1B1 genes has been implemented for this purpose. Ten patients affected with Peters anomaly, 8 with Rieger anomaly, and 3 with aniridia were included in t...

Mutations in the cytochrome P450 1B1 (CYP1B1) gene are a frequent cause of primary congenital glaucoma (PCG) in different ethnic groups. Cytochrome P450 proteins are monooxygenases, which catalyze many reactions involved in the metabolism of drugs as well as steroids and other lipids. The repeated occurence of several mutations in various ethnic gr...

Glaucoma is the second most frequent cause of irreversible blindness worldwide. Genetic factors have been implicated in the development of the disease. So far six loci (GLC1A-GLC1F) and two genes (TIGR/MYOC and OPTN) are involved in the development of juvenile (JOAG) and adult onset or chronic primary open angle glaucoma (COAG), while two loci (GLC...

To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene. All diagnoses were made by slit-lamp biomicroscopy, gonioscopy, cornea and optic disk measurements, ultrasound-biometry, and automated static threshold perimetry where...

Mutations at the myocilin (MYOC) gene within the GLC1A locus have been revealed in 2-4% of patients suffering primary open angle glaucoma (POAG) worldwide. In our ongoing glaucoma study six hundred eighty two persons have been screened for MYOC mutations. The first group consisted of 453 patients from a long-term clinical study diagnosed either wit...

Objetivo. Estimar el riesgo de ser portadoras a mujeres emparentadas por línea materna con un paciente afectado con DMD. Sitio de realización. Instituto de Genética Humana, Universidad Friedrich Alexander Erlangen-Nuremberg e INISA, Universidad de Costa Rica. Materiales y métodos. Se obtuvo ADN de 19 personas emparentadas por vía materna con un p...