scholarly journals A review of psychiatric genetics research in the Brazilian population

2009 ◽  
Vol 31 (2) ◽  
pp. 154-162 ◽  
Author(s):  
Quirino Cordeiro ◽  
Bruno Rezende Souza ◽  
Humberto Correa ◽  
Camila Guindalini ◽  
Mara Helena Hutz ◽  
...  

OBJECTIVE AND METHOD: A large increase in the number of Brazilian studies on psychiatric genetics has been observed in the 1970's since the first publications conducted by a group of researchers in Brazil. Here we reviewed the literature and evaluated the advantages and difficulties of psychiatric genetic studies in the Brazilian population. CONCLUSION: The Brazilian population is one of the most heterogeneous populations in the world, formed mainly by the admixture between European, African and Native American populations. Although the admixture process is not a particularity of the Brazilian population, much of the history and social development in Brazil underlies the ethnic melting pot we observe nowadays. Such ethnical heterogeneity of the Brazilian population obviously brings some problems when performing genetic studies. However, the Brazilian population offers a number of particular characteristics that are of major interest when genetic studies are carried out, such as the presence of isolated populations. Thus, differences in the genetic profile and in the exposure to environmental risks may result in different interactions and pathways to psychopathology.

2020 ◽  
pp. 1-13
Author(s):  
Jessica L. Bourdon ◽  
Rachel A. Davies ◽  
Elizabeth C. Long

<b><i>Background:</i></b> Psychiatric genetics has had limited success in translational efforts. A thorough understanding of the present state of translation in this field will be useful in the facilitation and assessment of future translational progress. <b><i>Purpose:</i></b> A narrative literature review was conducted. Combinations of 3 groups of terms were searched in EBSCOhost, Google Scholar, and PubMed. The review occurred in multiple steps, including abstract collection, inclusion/exclusion criteria review, coding, and analysis of included papers. <b><i>Results:</i></b> One hundred and fourteen articles were analyzed for the narrative review. Across those, 4 bottlenecks were noted that, if addressed, may provide insights and help improve and increase translation in the field of psychiatric genetics. These 4 bottlenecks are emphasizing linear translational frameworks, relying on molecular genomic findings, prioritizing certain psychiatric disorders, and publishing more reviews than experiments. <b><i>Conclusions:</i></b> These entwined bottlenecks are examined with one another. Awareness of these bottlenecks can inform stakeholders who work to translate and/or utilize psychiatric genetic information. Potential solutions include utilizing nonlinear translational frameworks as well as a wider array of psychiatric genetic information (e.g., family history and gene-environment interplay) in this area of research, expanding which psychiatric disorders are considered for translation, and when possible, conducting original research. Researchers are urged to consider how their research is translational in the context of the frameworks, genetic information, and psychiatric disorders discussed in this review. At a broader level, these efforts should be supported with translational efforts in funding and policy shifts.


2018 ◽  
Vol 21 (4) ◽  
pp. 322-323
Author(s):  
Kaare Christensen ◽  
Aksel Bertelsen

Irving I. Gottesman played an important role for psychiatric genetic research in Denmark through more than 40 years of collaboration with Danish scientists, resulting in important twin and family studies based upon the unique national registers available in Denmark.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Rossana Santiago de Sousa Azulay ◽  
Luís Cristóvão Porto ◽  
Dayse Aparecida Silva ◽  
Maria da Glória Tavares ◽  
Roberta Maria Duailibe Ferreira Reis ◽  
...  

AbstractThis study aimed to investigate the relationship between genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in patients with Type 1 Diabetes from an admixed Brazilian population. Inference of autosomal ancestry; HLA-DRB1, -DQA1 and -DQB1 typifications; and Y chromosome analysis were performed. European autosomal ancestry was about 50%, followed by approximately 25% of African and Native American. The European Y chromosome was predominant. The HLA-DRB1*03 and DRB1*04 alleles presented risk association with T1D. When the Y chromosome was European, DRB1*03 and DRB1*04 homozygote and DRB1*03/DRB1*04 heterozygote genotypes were the most frequent. The results suggest that individuals from Maranhão have a European origin as their major component; and are patrilineal with greater frequency from the R1b haplogroup. The predominance of the HLA-DRB1*03 and DRB1*04 alleles conferring greater risk in our population and being more frequently related to the ancestry of the European Y chromosome suggests that in our population, the risk of T1D can be transmitted by European ancestors of our process miscegenation. However, the Y sample sizes of Africans and Native Americans were small, and further research should be conducted with large mixed sample sizes to clarify this possible association.


2003 ◽  
Vol 171 (1) ◽  
pp. 27-35 ◽  
Author(s):  
Barbara Bowles Biesecker ◽  
Holly Landrum Peay

CNS Spectrums ◽  
2006 ◽  
Vol 11 (12) ◽  
pp. 931-939 ◽  
Author(s):  
Daniela S.S. Lobo ◽  
James L. Kennedy

ABSTRACTBehavioral addictions are considered as the repetitive occurrence of impulsive behaviors without consideration of their potential negative consequences. These addictions represent an increasing cost to society and are an important new field of research in psychiatric genetics. There has been a growing body of evidence on the familial aggregation and genetic influences on the development of behavioral addictions and mainly on pathological gambling. The aim of this article is to critically review findings of family and molecular genetic studies on behavioral addictions, focusing on pathological gambling and commenting on other disorders where appropriate. This review provides a comprehensive approach to genetic studies on behavioral addiction and points out the necessity of expanding the genetic research in this field. Future directions for genetic studies in this field are also discussed.


2020 ◽  
Vol 45 (10) ◽  
pp. 1593-1594
Author(s):  
Jooeun Kang ◽  
Douglas M. Ruderfer

2020 ◽  
pp. 088626052091751
Author(s):  
Evelyn M. Maeder ◽  
Laura A. McManus

Although Canada and the United States both demonstrate significant overrepresentation of racialized groups in prisons, the overrepresented groups vary by country, potentially signifying results of the countries’ different (though similarly problematic) histories of racial inequality. The present study investigated this issue within a jury context by assessing the influence of defendant race on Canadian and American participants’ verdicts in an assault trial. We also examined mock jurors’ attributions of the defendant’s behavior and their perceptions of the cultural criminal stereotype for each racial group. Canadian and American participants ( N = 198) read a trial transcript in which the defendant’s race (i.e., Black, White, or Aboriginal Canadian/Native American) was manipulated, and then completed measures of attributions and stereotypes. Results demonstrated that although verdicts did not significantly differ as a function of defendant race or country, stability and control attributions did vary between Canadian and American participants, as did racial stereotypes. In addition, defendant race affected internal versus external attributions, regardless of country. These findings suggest that race may play a role in jurors’ perceptions of defendants, but that in some ways, this varies by country, potentially accounting for some of the differences found between existing Canadian and American jury studies.


2019 ◽  
Vol 25 (10) ◽  
pp. 2422-2430 ◽  
Author(s):  
Douglas M. Ruderfer ◽  
Colin G. Walsh ◽  
Matthew W. Aguirre ◽  
Yosuke Tanigawa ◽  
Jessica D. Ribeiro ◽  
...  

Abstract Suicide accounts for nearly 800,000 deaths per year worldwide with rates of both deaths and attempts rising. Family studies have estimated substantial heritability of suicidal behavior; however, collecting the sample sizes necessary for successful genetic studies has remained a challenge. We utilized two different approaches in independent datasets to characterize the contribution of common genetic variation to suicide attempt. The first is a patient reported suicide attempt phenotype asked as part of an online mental health survey taken by a subset of participants (n = 157,366) in the UK Biobank. After quality control, we leveraged a genotyped set of unrelated, white British ancestry participants including 2433 cases and 334,766 controls that included those that did not participate in the survey or were not explicitly asked about attempting suicide. The second leveraged electronic health record (EHR) data from the Vanderbilt University Medical Center (VUMC, 2.8 million patients, 3250 cases) and machine learning to derive probabilities of attempting suicide in 24,546 genotyped patients. We identified significant and comparable heritability estimates of suicide attempt from both the patient reported phenotype in the UK Biobank (h2SNP = 0.035, p = 7.12 × 10−4) and the clinically predicted phenotype from VUMC (h2SNP = 0.046, p = 1.51 × 10−2). A significant genetic overlap was demonstrated between the two measures of suicide attempt in these independent samples through polygenic risk score analysis (t = 4.02, p = 5.75 × 10−5) and genetic correlation (rg = 1.073, SE = 0.36, p = 0.003). Finally, we show significant but incomplete genetic correlation of suicide attempt with insomnia (rg = 0.34–0.81) as well as several psychiatric disorders (rg = 0.26–0.79). This work demonstrates the contribution of common genetic variation to suicide attempt. It points to a genetic underpinning to clinically predicted risk of attempting suicide that is similar to the genetic profile from a patient reported outcome. Lastly, it presents an approach for using EHR data and clinical prediction to generate quantitative measures from binary phenotypes that can improve power for genetic studies.


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