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Applications of imaging genomics beyond oncology
Published in Ruijiang Li, Lei Xing, Sandy Napel, Daniel L. Rubin, Radiomics and Radiogenomics, 2019
Xiaohui Yao, Jingwen Yan, Li Shen
Bipolar disorder: Several genome-wide analyses have been performed to explore the genetic architecture of bipolar disorder (BPD) and identified several disease risk genes like ANK3, CACNA1C, ODZ4, and several others, which, however, use only disease statuses as phenotypes. Imaging genomics have also been applied in bipolar disorder, exploring the associations between BPD candidate SNPs/genes and brain regions. Shown in Table 20.5 are the genetic findings of bipolar disorder, where CACNA1C is the one that has been mostly explored and confirmed in imaging genomic studies. Several SNPs of CACNA1C show significant associations with different brain regions, including prefrontal cortex, hippocampus, caudate, amygdala, and some others. Besides, there are also a few genes reported or confirmed from the imaging genomics studies relevant to bipolar disorder, schizophrenia, as well as depression. It may promote the understanding of the underlying common mechanisms among the complex psychiatric disorders.
Genetic Studies of PTSD and Substance Use Disorders
Published in Anka A. Vujanovic, Sudie E. Back, Posttraumatic Stress and Substance Use Disorders, 2019
Christina M. Sheerin, Leslie A. Brick, Nicole R. Nugent, Ana B. Amstadter
Select candidate genes from each literature reviewed above appear to be relevant across both phenotypes and may be relevant for PTSD/SUD comorbidity. To summarize and examine this overlap in the literature, Table 15.1 presents examples of select genes relevant to both phenotypes. Importantly, a small number of studies have utilized samples with both PTSD and alcohol use phenotypes in order to examine these phenotypes in combination. For example, Kim and colleagues (2013) examined the association of APOE gene (a major lipoprotein within the central nervous system) with PTSD in a combat trauma population (N = 256) with data on harmful drinking behaviors. They found an interaction between harmful drinking and not having the APOE ε2 allele on PTSD risk, and within the PTSD group, the ε2 noncarriers drank more alcohol. In another study, the association of a DRD2 variant with PTSD, which has previously been demonstrated, was found only in a subset of those who also engaged in harmful drinking behavior (Young et al., 2002). Logue, Solovieff, and colleagues (2013) have found an association of a number of SNPs within ANK3 (implicated in regulation of neuronal activity) with PTSD and an externalizing factor (composed of antisocial tendencies and substance use). Nugent and colleagues (2012) examined the association of variation in the OPRM1 gene (believed to influence the stress system) as a predictor of both PTSD and drinking motives in individuals (N = 201) with HIV and found evidence that variation in this gene was associated with both PTSD symptom severity and enhancement motives for drinking.
Influence of the inflammasome complex on psychiatric disorders: clinical and preclinical studies
Published in Expert Opinion on Therapeutic Targets, 2021
Many genes have been suggested in relation to the pathogenesis or development of BD. The potential genes may be ANK3 (ankyrin G), CACNA1C (alpha 1 C subunit of the L-type voltage-gated calcium channel), TRANK1 (tetratricopeptide repeat and ankyrin repeat containing 1), FADS1 (fatty acid desaturase 1), and NEK7 (serine/threonine-protein kinase Nek7) [104,106,107]. In preclinical studies, it was found that changes in the state of the Ank3 gene increased the susceptibility to psychiatric disorders by affecting synaptic compartments [108]. Deletion of Cacna1c in the forebrain results in deficits in social interaction and learning/memory [109]. In a psychosis model, social isolation leads to increased expression of Trank1 in the prefrontal cortex, caused via structural and functional abnormalities of the BBB and neuroinflammation [110]. Genetic variations in the FADS1/2 genes are involved in IL-1β and NF-κB signaling-associated gene expression in human adipose tissue [111]. Additionally, NEK7 plays an important role in the activation of the NLRP3 inflammasome [112]. Therefore, previous studies have shown the relationship between inflammasomes and the pathogenesis of BD.
Spectrin-based pathways underlying electrical and mechanical dysfunction in cardiac disease
Published in Expert Review of Cardiovascular Therapy, 2018
Sathya D. Unudurthi, Amara Greer-Short, Nehal Patel, Drew Nassal, Thomas J. Hund
Given the many ways that spectrins support metazoan cell function, the close link between spectrin dysfunction and human disease is not surprising. Mutations in spectrins and ankryins have been identified as the underlying cause of forms of hereditary spherocytosis and hemolytic anemia, as well as spinocerebellar ataxia in mice and humans [15,19,35]. In a similar vein, genome-wide association studies have uncovered ANK3 (encodes for spectrin-associated AnkG) as a susceptibility locus for human bipolar disorder [60], while mutations in ANK3 have been linked to broad-spectrum neurological disorders including autism [61,62]. More recently, it has been reported that a homozygous nonsense mutation in SPTBN4 (encoding βIV-spectrin) is a novel candidate disease gene for congenital myopathy, neuropathy, and deafness in a consanguineous Kurdish family [63].
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family
Published in International Journal of Neuroscience, 2019
Muhammad Sher, Muhammad Farooq, Uzma Abdullah, Zafar Ali, Sanam Faryal, Mohammad Zakaria, Farid Ullah, Hassan Bukhari, Rikke S. Møller, Niels Tommerup, Shahid Mahmood Baig
Further deep exploration of panel sequencing data revealed monoallelic variants in ANK3, PHGDH and RELN recessive genes (Supplementary Table S3). As heterozygous variants in recessive genes are not sufficient to cause phenotype and these genes were not previously associated with visual impairment, so they were excluded. Four additional heterozygous genetic variants in SMARCA2, TRIP12, CHRNA4 and TSC2 dominant genes were also observed (Supplementary Table S4). These were also excluded because they were all class III (uncertain significance) variants [15].