Family-Genetic Studies of Psychiatric Disorders (original) (raw)
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Clinical applications of psychiatric genetics
American Journal of Orthopsychiatry, 1982
Htrscvl on (I /~r t~. s t~n t t r t i o n (i t the 1979 trririritrl mec~ting o f t h e Anirrictrn Orthopsychitrtric Associtrtiori. in Wtr.\hiri,vton. D.C.
Rediscovering the value of families for psychiatric genetics research
Molecular psychiatry, 2018
As it is likely that both common and rare genetic variation are important for complex disease risk, studies that examine the full range of the allelic frequency distribution should be utilized to dissect the genetic influences on mental illness. The rate limiting factor for inferring an association between a variant and a phenotype is inevitably the total number of copies of the minor allele captured in the studied sample. For rare variation, with minor allele frequencies of 0.5% or less, very large samples of unrelated individuals are necessary to unambiguously associate a locus with an illness. Unfortunately, such large samples are often cost prohibitive. However, by using alternative analytic strategies and studying related individuals, particularly those from large multiplex families, it is possible to reduce the required sample size while maintaining statistical power. We contend that using whole genome sequence (WGS) in extended pedigrees provides a cost-effective strategy for...
Frontiers in Psychiatry, 2019
Book chapter / Poglavlje u knjizi Publication status / Verzija rada: Accepted version / Završna verzija rukopisa prihvaćena za objavljivanje (postprint)
Family patterns of psychopathology in psychiatric disorders
Comprehensive Psychiatry, 2015
Objective: Familial loading and crucial outcomes of family history of psychopathology in psychiatric disorders have long been recognized. There has been ample literature providing convincing evidence for the importance of family psychopathology in development of emotional disturbances in children as well as worse outcomes in the course of psychiatric disorders. More often, maternal psychopathology seems to have been an issue of interest rather than paternal psychopathology while effects of second-degree familiality have received almost no attention. In this study, we addressed the relations between affected first-and second-degree relatives of probands and categories of psychiatric disorders. Method: Subjects were 350 hospitalized psychiatric inpatients, consecutively admitted to psychiatry clinics in Van, Turkey. Mean age was 34.16 (SD ± 12) and 51.4% of the sample consisted of male patients. Assessment of psychopathology in psychiatric probands was conducted based on DSM-IV TR. Familial loading of psychiatric disorders amongst first-and second-degree relatives of patients were initially noted primarily relying on patients' retrospective reports, and confirmed by both phone call and following official health records via the Medical Knowledge System. We analyzed the data using latent class analysis approach. Results: We found four patterns of familial psychopathology. Latent homogeneous subsets of patients due to familial characteristics were as paternal kinship psychopathology with schizophrenia, paternal kinship psychopathology with mood disorders, maternal kinship psychopathology and core family psychopathology. Conclusion: Family patterns were critical to exerting variation in psychiatric disorders of probands and affected relatives. Probands with a core family pattern of psychopathology exhibited the most colorful clinical presentations in terms of variation in psychopathology. We observed a specificity of intergenerational transmission of psychiatric disorders when family patterns of psychopathology were taken into consideration, even second-degree relatives of psychiatric probands.
The outlook for linkage research in psychiatric disorders
Journal of Psychiatric Research, 1987
Analysis of the distribution of diagnoses in families (segregation analysis) has not, so far, advanced us toward the goal of resolving the inheritance of the major psychiatric disorders. Recent advances in genetics, particularly the development of new molecular genetic linkage methods, have made it, at least theoretically, feasible to scan the entire human genome, so that in a properly designed and executed set of studies it will be possible to demonstrate whether there exists single locus transmission for a particular disorder, and to map the locus. We present here an analysis of feasibility of moderate-sized pedigrees (approximately 15 persons, two generations) and affected-sib-pair sets in such studies. Eight to ten moderate-sized pedigrees are sufficient to perform definitive mapping under the tested conditions, of recessive or additive inheritance, low penetrance of the heterozygote, and a genetically homogeneous disorder. The affected-sib-pair method required 25 pairs of sibs to detect linkage under such conditions in a recessive model, and 45 in a dominant model. When there is genetic heterogeneity, moderate-sized pedigrees are much less useful, but the affected-sib-pair method retains considerable power.
Critical Perspectives on Psychiatric Genetics
The Palgrave Encyclopedia of Critical Perspectives on Mental Health, 2024
The concept of psychiatric genetics, the notion of a “family history” or “genetic loading” of so-called mental illness, has a long history in the conception, scientific status, and practice of psychiatry. There is much that is contested about this concept, including the effects of putting it to use and the construction of human-ness it assembles, the historical contingency of the concept, and its scientific validity. The consequences of this construction of human-ness can lead to less livable lives. When there is a history of psychiatric diagnosis in a family, there are alternative interpretations and practices that can contribute to more livable lives, or lives where individual, familial, and collective knowledge, as well as complexity, is honoured.
The influence of genetics on psychiatric disease
Drug Discovery Today, 2001
The balance of evidence from numerous studies on psychiatric diseases and disorders suggests that for (at the least) schizophrenia, bipolar disorder, autism and unipolar depression, a significant component of these disorders can be linked to a genetic component. This article will give a broad overview of the influence of genetics on psychiatric disease, and attempt to bring in recent molecular approaches to the understanding of the effects of genetic and environmental influences on these disorders.
Legacy of mental Illness: A family with unusual genetic penetration
Mental illnesses are multifactorial disorders caused by the interaction of genetic and environmental factors. Multiple lines of evidence suggest that the roles of genetic and environmental factors depend on each other. The aim of the report is to share the presentation of different psychiatric illnesses in generations of a family. A 31 year old male, unmarried, studied up to class eight, unemployed, muslim, non smoker, with average intelligence, hailing from the Dhaka with lower-middle economic background was diagnosed as a case of Schizophrenia. He has very strong family history of mental illness more prominent in male and persistent in generations. Males were affected by schizophrenia, personality disorder and substance related disorder, whereas only one female was affected by depression with suicide. In the patient's generation, two males were affected with schizophrenia, two male with personality disorder and two with substance related disorder without any presentation in female. In previous generation one male was affected with personality disorder (Father) and one female was suicide committer due to depression (Aunt). There was also presence of male psychotic patients in the grandmother's family of the patient. Family, twin and adoption studies have shown that, for schizophrenia, autism, manic depressive illness, major depression, attention deficit hyperactivity disorder, panic disorder and other mental illnesses, the transmission of risk was heredity. Our case strongly made us curious to search for any common genetic link between different mental illnesses running in the family.
Child and adolescent psychiatric genetics
European Child & Adolescent Psychiatry, 2010
The current status of child and adolescent psychiatric genetics appears promising in light of the initiation of genome-wide association studies (GWAS) for diverse polygenic disorders and the molecular elucidation of monogenic Rett syndrome, for which recent functional studies provide hope for pharmacological treatment strategies. Within the last 50 years, tremendous progress has been made in linking genetic variation to behavioral phenotypes and psychiatric disorders. We summarize the major findings of the Human Genome Project and dwell on largely unsuccessful candidate gene and linkage studies. GWAS for the first time offer the possibility to detect single nucleotide polymorphisms and copy number variants without a priori hypotheses as to their molecular etiology. At the same time it is becoming increasingly clear that very large sample sizes are required in order to enable genome wide significant findings, thus necessitating further largescaled ascertainment schemes for the successful elucidation of the molecular genetics of childhood and adolescent psychiatric disorders. We conclude by reflecting on different scenarios for future research into the molecular basis of early onset psychiatric disorders. This review represents the introductory article of this special issue of the European Child and Adolescent Psychiatry.