Am J Med Genet B Neuropsychiatr Genet
April 2024
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 populations from 2010 to 2019, and classify it according to country of origin, type of analysis, source of funding, and other variables.
View Article and Find Full Text PDFBipolar disorder is a highly heritable illness, associated with alterations of brain structure. As such, identification of genes influencing inter-individual differences in brain morphology may help elucidate the underlying pathophysiology of bipolar disorder (BP). To identify quantitative trait loci (QTL) that contribute to phenotypic variance of brain structure, structural neuroimages were acquired from family members (n = 527) of extended pedigrees heavily loaded for bipolar disorder ascertained from genetically isolated populations in Latin America.
View Article and Find Full Text PDFCurrent evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP.
View Article and Find Full Text PDFBackground: Disturbed sleep and activity are prominent features of bipolar disorder type I (BP-I). However, the relationship of sleep and activity characteristics to brain structure and behavior in euthymic BP-I patients and their non-BP-I relatives is unknown. Additionally, underlying genetic relationships between these traits have not been investigated.
View Article and Find Full Text PDFPremise Of The Study: Flowering initiation, duration and magnitude, and degree of flowering synchrony within a population can affect the reproductive fitness of individuals. We examined the flowering phenology within a population of the tropical dry forest Guanacaste tree (Enterolobium cyclocarpum) to gauge the impact of phenological variation among trees on fruit production and progeny vigor.
Methods: We monitored the flowering phenology of 93 trees weekly during 2005, 2006, and 2007, using a scale based on the percentage of the crown with open flowers.
The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and other quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus.
View Article and Find Full Text PDFAbnormalities in sleep and circadian rhythms are central features of bipolar disorder (BP), often persisting between episodes. We report here, to our knowledge, the first systematic analysis of circadian rhythm activity in pedigrees segregating severe BP (BP-I). By analyzing actigraphy data obtained from members of 26 Costa Rican and Colombian pedigrees [136 euthymic (i.
View Article and Find Full Text PDFRecent theories regarding the pathophysiology of bipolar disorder suggest contributions of both neurodevelopmental and neurodegenerative processes. While structural neuroimaging studies indicate disease-associated neuroanatomical alterations, the behavioural correlates of these alterations have not been well characterized. Here, we investigated multi-generational families genetically enriched for bipolar disorder to: (i) characterize neurobehavioural correlates of neuroanatomical measures implicated in the pathophysiology of bipolar disorder; (ii) identify brain-behaviour associations that differ between diagnostic groups; (iii) identify neurocognitive traits that show evidence of accelerated ageing specifically in subjects with bipolar disorder; and (iv) identify brain-behaviour correlations that differ across the age span.
View Article and Find Full Text PDFImportance: Genetic factors contribute to risk for bipolar disorder (BP), but its pathogenesis remains poorly understood. A focus on measuring multisystem quantitative traits that may be components of BP psychopathology may enable genetic dissection of this complex disorder, and investigation of extended pedigrees from genetically isolated populations may facilitate the detection of specific genetic variants that affect BP as well as its component phenotypes.
Objective: To identify quantitative neurocognitive, temperament-related, and neuroanatomical phenotypes that appear heritable and associated with severe BP (bipolar I disorder [BP-I]) and therefore suitable for genetic linkage and association studies aimed at identifying variants contributing to BP-I risk.
Plant populations may experience local extinction and at the same time new populations may appear in nearby suitable locations. Species may also colonize the same site on multiple occasions. Here, we examined the impact of local extinction and recolonization on the genetic structure of wild populations of lima beans (Phaseolus lunatus) in the Central Valley of Costa Rica.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
October 2009
We previously reported linkage of bipolar disorder to 5q33-q34 in families from two closely related population isolates, the Central Valley of Costa Rica (CVCR) and Antioquia, Colombia (CO). Here we present follow up results from fine-scale mapping in large CVCR and CO families segregating severe bipolar disorder, BP-I, and in 343 population trios/duos from CVCR and CO. Employing densely spaced SNPs to fine map the prior linkage peak region increases linkage evidence and clarifies the position of the putative BP-I locus.
View Article and Find Full Text PDFWe performed a whole genome microsatellite marker scan in six multiplex families with bipolar (BP) mood disorder ascertained in Antioquia, a historically isolated population from North West Colombia. These families were characterized clinically using the approach employed in independent ongoing studies of BP in the closely related population of the Central Valley of Costa Rica. The most consistent linkage results from parametric and non-parametric analyses of the Colombian scan involved markers on 5q31-33, a region implicated by the previous studies of BP in Costa Rica.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
June 2006
We have ascertained in the Central Valley of Costa Rica a new kindred (CR201) segregating for severe bipolar disorder (BP-I). The family was identified by tracing genealogical connections among eight persons initially independently ascertained for a genome wide association study of BP-I. For the genome screen in CR201, we trimmed the family down to 168 persons (82 of whom are genotyped), containing 25 individuals with a best-estimate diagnosis of BP-I.
View Article and Find Full Text PDFWe studied the morfological diversity in fruits and seeds in 38 wild populations of Phaseolus lunatus var. lunatus (lima beans) in the central valley of Costa Rica. In order to do so, measured the length and width of the fruits and the length, width and thickness of seeds.
View Article and Find Full Text PDFGC level distributions of a species' nuclear genome, or of its compositional fractions, encode key information on structural and functional properties of the genome and on its evolution. They can be calculated either from absorbance profiles of the DNA in CsCl density gradients at sedimentation equilibrium, or by scanning long contigs of largely sequenced genomes. In the present study, we address the quantitative characterization of the compositional heterogeneity of genomes, as measured by the GC distributions of fixed-length fragments.
View Article and Find Full Text PDFLeaf samples were collected from cucurbit and solanaceous crop plants and Musa spp. in 28 locations in five provinces of Costa Rica during the period from January to October 1996. Sampling sites were selected in dry, humid, and moist tropical regions ranging in altitude from 50 to 2,100 m above sea level.
View Article and Find Full Text PDFThe compositional distributions of high molecular weight DNA fragments from 20 species belonging to 9 out of the 17 eutherian orders were investigated by analytical CsCl density gradient centrifugation and by preparative fractionation in Cs2SO4/BAMD density gradients followed by analysis of the fractions in CsCl. These compositional distributions reflect those of the isochores making up the corresponding genomes. A "general distribution" was found in species belonging to eight mammalian orders.
View Article and Find Full Text PDFMethylation was investigated in compositional fractions of nuclear DNA preparations (50-100 kb in size) from five plants (onion, maize, rye, pea and tobacco), and was found to increase from GC-poor to GC-rich fractions. This methylation gradient showed different patterns in different plants and appears, therefore, to represent a novel, characteristic genome feature which concerns the noncoding, intergenic sequences that make up the bulk of the plant genomes investigated and mainly consist of repetitive sequences. The structural and functional implications of these results are discussed.
View Article and Find Full Text PDFNo information exists on the organization and mechanisms of expression of the genome of rice hoja blanca virus (RHBV), a member of the tenuivirus group, but here we describe the first steps in its characterization. RHBV contains four ssRNA and three dsRNA species, the sizes of which were estimated by native and denaturing gel electrophoresis. Hybridization analyses using 32P-labelled riboprobes of viral and viral complementary polarities showed that unequal amounts of the two polarities of at least the smallest RNA are present in the virion, and indicated that the dsRNA species contain the same information as the ssRNA species of corresponding size.
View Article and Find Full Text PDFWe have studied the compositional distribution of six genes (or small multigene families) and of one family of transposable elements, Tnt1, in DNA fractions from tobacco (Nicotiana tabacum) separated according to base composition. We have shown that gene distribution is bimodal and that such bimodality is due to the different base composition of the two parental genomes of tobacco (N.sylvestris and N.
View Article and Find Full Text PDFPrevious investigations on the human genome determined: (i) the base compositions (GC levels) and the relative amounts of its isochore families; (ii) the compositional correlations (i.e., the correlations between GC levels) between third codon positions of a set of genes and the DNA fractions in which the genes were localized; and (iii) the compositional correlations between (a) third and first + second codon positions, as well as that between (b) introns and exons from the set of 'localized genes' and from all the coding sequences and genes (genomic sequences of exons + introns) available in gene banks.
View Article and Find Full Text PDFNine different groups of individuals studied from 1969 to 1985 were tested for Hepatitis B Virus (HBV) markers. In 8 groups only HBsAg in serum was tested, in another group: tissular HBsAg, and in two of those groups: serum HBsAg, anti-HBs and anti-HBc. Mean HBsAg prevalence in groups similar to general population was 0.
View Article and Find Full Text PDFWe have studied the spreading conditions that lead to the formation of rosettes in DNA and chromatin preparations from the amphibians Bufo marinus and Bolitoglossa subpalmata and the bacterium Shigella. Both nuclear preparations and extensively deproteinized DNA produced rosettes. The longest fibers and the most symmetric rosettes were observed in amphibian nuclear spreadings.
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