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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
Genetic factors were found to play a major role in the etiology of schizophrenia. A meta-analysis using pooled data from 12 twin studies estimated the heritability of schizophrenia to be approximately 80% [107]. To date, around 30 schizophrenia-associated loci have been identified through GWAS to play a role in conferring the risk of schizophrenia, such as catechol-O-methyltransferase (COMT), Disrupted In Schizophrenia 1 (DISC1), regulator of G protein signaling 4 (RGS4), neuregulin 1 (NRG1), dystrobrevin binding protein 1 (DTNBP1), D-amino acid oxidase activator (DAOA), phosphodiesterase 4B (PDE4B), Dopamine- and cAMP-regulated phosphoprotein, Mr 32 kDa (DARPP-32) protein phosphatase 1 regulatory subunit 3B and glutamate metabotropic receptor 3 (GRM3) [108]. There are also growing evidences from exome sequencing studies indicating that some risk genes and pathways are affected by both common and rare variants [109], which implies large effects of rare variants on individual risk. This can be best exemplified by 11 large, rare recurrent CNVs and loss-of-function variants in set domain containing 1A, histone lysine methyltransferase (SETD1A) [109,110]. Evidences from other exome sequencing studies imply more other rare variants conferring substantial individual risk [111,112]. Despite the remarkable progress in the search for risk genes associated with schizophrenia, translation of genetic associations into targetable mechanisms related to disease pathogenesis remains poorly understood.
Association of negative symptoms with cognitive impairment in Chinese Han patients with chronic schizophrenia
Published in International Journal of Psychiatry in Clinical Practice, 2021
Rongrong Zhu, Dongmei Wang, Gaoxia Wei, Jiesi Wang, Huixia Zhou, Hang Xu, Wenjia Wang, Shuochi Wei, Dachun Chen, Meihong Xiu, Li Wang, Xiang Yang Zhang
Furthermore, we speculate that negative symptoms and cognitive deficits may share the underlying brain and biological mechanisms. For example, Millan et al. (2014) suggested that common abnormalities in the medial prefrontal and temporal lobe networks may be related to negative and cognitive symptoms in patients. Fernandez-Egea et al. (2016) reported that more severe negative and cognitive symptoms were associated with a decrease in the relative numbers of dendritic cells, HLA-DR + Tregs, and CD4+ memory T cells. Jagannath et al. (2017) confirmed that d-amino acid oxidase, d-amino acid oxidase activator, and neuregulin 1 polymorphisms may affect both negative symptoms and cognitive deficits. In addition, reward learning deficits have been shown to be associated with negative symptoms and impaired cognition in schizophrenia patients(Nestor et al. 2014; Bismark et al. 2018). The findings suggested that disturbance in reward learning deficits may underlie both cognitive and negative symptoms in schizophrenia. Taken together, these studies illustrate that patients’ cognitive and negative symptoms may share common underlying mechanisms and neural underpinning. However, more brain imaging studies are needed to better understand the underlying mechanisms for the relationship between cognitive deficits and negative symptoms in schizophrenia.