RESUMO
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. We found that most publications came from Brazil, Mexico, and Colombia. Also, local funds are generally not large enough for genome-wide studies in Latin America, with the exception of Brazil and Mexico; larger studies are often done in collaboration with international partners, mostly funded by US agencies. In most of the larger studies, the participants are individuals of Latin American ancestry living in the United States, which limits the potential for exploring the complex gene-environment interaction. Family studies, traditionally strong in Latin America, represent about 30% of the total research publications. Scarce local resources for research in Latin America have probably been an important limitation for conducting bigger and more complex studies, contributing to the reduced representation of these populations in global psychiatric genetics studies. Increasing diversity must be a goal to improve generalizability and applicability in clinical settings.
Assuntos
Hispânico ou Latino , Transtornos Mentais , Humanos , América Latina , Transtornos Mentais/genética , México , Projetos de PesquisaRESUMO
PREMISE 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. We also monitored fruit production for each tree in 2005, 2006, 2007, and 2008. Finally, we evaluated the relationship between phenological variation and progeny performance. KEY RESULTS: Ten measures of flowering phenology and synchrony among flowering trees, based on the number of weeks when anthesis of the crown exceeded 50%, were used to develop four phenological profiles. These profiles were correlated with significant differences in fruit production and progeny vigor. Trees with flowers in >50% of their crown for at least 2 weeks produced more fruits and more vigorous progeny than trees with other profiles. Trees also tended to produce the same phenological profile among years than predicted by chance. CONCLUSIONS: Guanacaste trees vary significantly in the initiation of anthesis, duration and magnitude of flowering, and degree of synchrony among trees. Trees also tend to maintain the same flowering profile among years. Finally, the flowering behavior of E. cyclocarpum leads to significant differences in fruit and seed production, germination, and early progeny growth.
Assuntos
Fabaceae/fisiologia , Flores/fisiologia , Árvores/fisiologia , Frutas/crescimento & desenvolvimento , Germinação , Plântula/crescimento & desenvolvimento , Fatores de TempoRESUMO
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. In the eQTL analysis, we utilize a recently proposed hierarchical multiple testing strategy which controls error rates regarding the discovery of functional variants. Our results elucidate the heritability and regulation of gene expression in this unique Latin American study population and identify a set of regulatory SNPs which may be relevant in future investigations of complex disease in this population. Since our subjects belong to extended families, we are able to compare traditional kinship-based estimates with those from more recent methods that depend only on genotype information.
Assuntos
Transtorno Bipolar/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Locos de Características Quantitativas/genética , Alelos , Transtorno Bipolar/patologia , Mapeamento Cromossômico , Colômbia , Costa Rica , Feminino , Expressão Gênica , Redes Reguladoras de Genes , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
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. We compared genetic diversity from the samples taken from the populations before and after extinction at 13 locations using microsatellite markers. Locations were classified according to the occurrence of extinction episodes during the previous five years into three groups: 1) populations that experienced extinction for more than one year, and were later recolonized (recolonized), 2) populations that did not experience local extinction (control), and 3) populations that did not experience local extinction during the study, but were cut to experimentally simulate extinction (experimental). Our data did not show a clear tendency in variation in allele frequencies, expected heterozygosity, and effective number of alleles within and between groups of populations. However, we found that the level of genetic differentiation between samples collected at different times at the same location was different in the three groups of populations. Recolonized locations showed the highest level of genetic differentiation (mean Fst= 0.2769), followed by control locations (mean Fst= 0.0576) and experimental locations (mean Fst= 0.0189). Similar findings were observed for Neis genetic distance between samples (di,j= 0.1786, 0.0400, and 0.0037, respectively). Our results indicate that genetic change in lima beans depends on the duration and frequency of local extinction episodes. These findings also showed that control populations are not in equilibrium. Implications of these results for the establishment of conservation strategies of genetic resources of lima beans are discussed. Rev. Biol. Trop. 56 (3): 1023-1041. Epub 2008 September 30.
Las poblaciones de plantas pueden experimentar extinción local, y al mismo tiempo, pueden surgir a sus alrededores nuevas poblaciones. Algunas especies pueden colonizar el mismo sitio en múltiples ocasiones. Aquí examinamos el impacto de la extinción local y recolonización en la estructura genética de poblaciones silvestres del frijol lima (Phaseolus lunatus) en el valle Central de Costa Rica. Comparamos la diversidad genética de muestras tomadas en poblaciones, antes y después de la extinción, en 13 sitios, usando marcadores de microsatélite. Según los episodios de extinción durante los cinco años previos, clasificamos los sitios así: 1) poblaciones que han experimentado extinción por más de un año, y después han recolonizado (recolonizado), 2) poblaciones que no han experimentado extinción local (control), y 3) poblaciones que no han experimentado extinción local durante el estudio, pero fueron cortadas experimentalmente, simulando una extinción (experimental). Nuestros datos no mostraron una clara tendencia en la variación de las frecuencias alélicas, heterozigosidad, o número efectivo de alelos en y entre grupos de poblaciones. Los niveles de diferenciación genética entre muestras recolectadas en diferentes momentos en el mismo sitio fueron diferentes en los tres grupos de poblaciones. Los sitios recolonizados mostraron el mayor nivel de diferenciación genética (Fst = 0.2769), seguidos de los sitios control (Fst= 0.0576) y sitios experimentales (Fst= 0.0189). Obtuvimos resultados similares en la distancia genética Neis entre muestras (d i,j = 0.1786, 0.0400, y 0.0037, respectivamente). Los cambios genéticos en los frijoles lima dependen de la duración y frecuencia de los episodios de extinción local. Las poblaciones "control" no están en equilibrio. Las implicaciones de estos resultados para el establecimiento de estrategias de conservación de los recursos genéticos de habas se encuentran en discusión.
Assuntos
Extinção Biológica , Frequência do Gene/genética , Estruturas Genéticas/genética , Variação Genética/genética , Phaseolus/genética , Costa Rica , DNA de Plantas/genética , Repetições de Microssatélites/genéticaRESUMO
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. We compared genetic diversity from the samples taken from the populations before and after extinction at 13 locations using microsatellite markers. Locations were classified according to the occurrence of extinction episodes during the previous five years into three groups: 1) populations that experienced extinction for more than one year, and were later recolonized (recolonized), 2) populations that did not experience local extinction (control), and 3) populations that did not experience local extinction during the study, but were cut to experimentally simulate extinction (experimental). Our data did not show a clear tendency in variation in allele frequencies, expected heterozygosity, and effective number of alleles within and between groups of populations. However, we found that the level of genetic differentiation between samples collected at different times at the same location was different in the three groups of populations. Recolonized locations showed the highest level of genetic differentiation (mean F(st) = 0.2769), followed by control locations (mean F(st) = 0.0576) and experimental locations (mean F(st) = 0.0189). Similar findings were observed for Neis genetic distance between samples (d(ij) = 0.1786, 0.0400, and 0.0037, respectively). Our results indicate that genetic change in lima beans depends on the duration and frequency of local extinction episodes. These findings also showed that control populations are not in equilibrium. Implications of these results for the establishment of conservation strategies of genetic resources of lima beans are discussed.
Assuntos
Extinção Biológica , Frequência do Gene/genética , Estruturas Genéticas/genética , Variação Genética/genética , Phaseolus/genética , Costa Rica , DNA de Plantas/genética , Repetições de Microssatélites/genéticaRESUMO
We 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. Because of these concordant results, a follow-up study with additional markers was undertaken in an expanded set of Colombian and Costa Rican families; this provided a genome-wide significant evidence of linkage of BPI to a candidate region of approximately 10 cM in 5q31-33 (maximum non-parametric linkage score=4.395, P<0.00004). Interestingly, this region has been implicated in several previous genetic studies of schizophrenia and psychosis, including disease association with variants of the enthoprotin and gamma-aminobutyric acid receptor genes.
Assuntos
Transtorno Bipolar/genética , Cromossomos Humanos Par 5/genética , Predisposição Genética para Doença , Colômbia , Costa Rica , Feminino , Efeito Fundador , Genoma Humano , Humanos , Escore Lod , Masculino , Repetições de Microssatélites , Linhagem , Estatísticas não ParamétricasRESUMO
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. A total of 4,690 SNP markers were genotyped. Analysis of the data was hampered by the size and complexity of the pedigree, which prohibited using exact multipoint methods on the entire kindred. Two-point parametric linkage analysis, using a conservative model of transmission, produced a maximum LOD score of 2.78 on chromosome 6, and a total of 39 loci with LOD scores >1.0. Multipoint parametric and non-parametric linkage analysis was performed separately on four sections of CR201, and interesting (nominal P-value from either analysis <0.01), although not statistically significant, regions were highlighted on chromosomes 1, 2, 3, 12, 16, 19, and 22, in at least one section of the pedigree, or when considering all sections together. The difficulties of analyzing genome wide SNP data for complex disorders in large, potentially informative, kindreds are discussed.
Assuntos
Transtorno Bipolar/genética , Genoma Humano/genética , Polimorfismo de Nucleotídeo Único , Transtorno Bipolar/diagnóstico , Costa Rica , Feminino , Ligação Genética , Marcadores Genéticos/genética , Predisposição Genética para Doença/genética , Testes Genéticos , Genótipo , Humanos , Escore Lod , Masculino , LinhagemRESUMO
We 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. We also calculated the ratio between these traits and determined the weight of 100 seeds. In general, we found significant variation between populations for all variables. When we grouped the 38 populations into eight geographical regions within the study area, we found significant differences between regions. However, the levels of variation between populations within geographical regions was larger than that found between geographical regions. These findings suggested that there is no clear relationship between these variables and the geographical grouping established in this study. The implications of these findings for the establishment of strategies for in situ conservation of wild populations of lima beans are discussed.
Assuntos
Frutas , Variação Genética , Phaseolus , Sementes , Costa Rica , PhaseolusRESUMO
We 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. We also calculated the ratio between these traits and determined the weight of 100 seeds. In general, we found significant variation between populations for all variables. When we grouped the 38 populations into eight geographical regions within the study area, we found significant differences between regions. However, the levels of variation between populations within geographical regions was larger than that found between geographical regions. These findings suggested that there is no clear relationship between these variables and the geographical grouping established in this study. The implications of these findings for the establishment of strategies for in situ conservation of wild populations of lima beans are discussed.