Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder

Dwyer, Sarah; Hj, Williams; Jones, Ian; Jones, Lisa; Walters, James; Craddock, Nicholas John

doi:10.1038/mp.2011.2

Cited by 18 publications

(13 citation statements)

References 4 publications

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“…Thus, a single gene could cause different phenotypes, depending on various interactions at the gene–gene and gene-environmental levels (genetic pleiotropism) ( 31 ). This theory is supported by recent studies that reported that the same genetic variants can cause both bipolar disorder and schizophrenia ( 35 , 36 ). Furthermore, the shared GM in the left claustrum could be regarded with suspicion as this deep GM area is rather delicate and thus might be prone to image-registration errors.…”

Section: Discussionsupporting

confidence: 53%

Similar and Different Gray Matter Deficits in Schizophrenia Patients and Their Unaffected Biological Relatives

et al. 2013

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Neuroimaging studies have revealed significant reductions in the gray matter (GM) of several brain regions in patients with schizophrenia, a neuropsychiatric disorder with high hereditability. However, it is unclear whether unaffected relatives have GM abnormalities in common with their affected relatives, which may relate to susceptibility to developing schizophrenia. To address this issue, we conducted two separate meta-analyses of voxel-based morphometry to investigate GM abnormalities in schizophrenia patients and their unaffected relatives. One meta-analysis compared a patient group with healthy controls, whereas the other meta-analysis compared the unaffected relatives with healthy controls. Eight studies comprising 495 patients with schizophrenia, 584 unaffected relatives of patients, and 596 healthy controls were systematically included in the present study. Compared to healthy controls, the patient group showed decreased GM in the right cuneus, the right superior frontal gyrus, the right insula and the left claustrum, and increased GM in the bilateral putamen, the right parahippocampal gyrus, the left precentral gyrus, the left inferior temporal gyri, and the right cerebellar tonsil. The comparison between unaffected relatives and healthy controls showed a GM reduction in the left claustrum, the bilateral parahippocampal gyri, the left fusiform gyrus, the right inferior temporal gyrus, and the bilateral medial prefrontal cortices, whereas increased GM was observed in the right hippocampus, the right fusiform gyrus, the right precentral gyrus, and the right precuneus. Thus, our meta-analyses show that the GM changes in schizophrenia patients and their unaffected relatives are largely different, although there is subtle overlap in some regions.

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Section: Discussionsupporting

confidence: 53%

Similar and Different Gray Matter Deficits in Schizophrenia Patients and Their Unaffected Biological Relatives

et al. 2013

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“…ABCA13 is an intriguing candidate as the expression levels are very high relative to other ABC family members, and there are no reports of endogenous or exogenous substrates, expression patterns in epithelium, or associations with respiratory mucosal immunology. Reports show associations between ABCA13 expression and cancers 36–38 , while ABCA13 variants are associated with mental health abnormalities 39,40 , although no mechanisms have been defined for either of these observations. Other ABCA family members are involved in lipid transport and dysregulation of their pathways can result in lung inflammation 41 .…”

Section: Discussionmentioning

confidence: 99%

The impact of cigarette smoke exposure, COPD, or asthma status on ABC transporter gene expression in human airway epithelial cells

Aguiar

Tamminga

Lobb

et al. 2019

Sci Rep

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ABC transporters are conserved in prokaryotes and eukaryotes, with humans expressing 48 transporters divided into 7 classes (ABCA, ABCB, ABCC, ABCD, ABDE, ABCF, and ABCG). Throughout the human body, ABC transporters regulate cAMP levels, chloride secretion, lipid transport, and anti-oxidant responses. We used a bioinformatic approach complemented with in vitro experimental methods for validation of the 48 known human ABC transporters in airway epithelial cells using bronchial epithelial cell gene expression datasets available in NCBI GEO from well-characterized patient populations of healthy subjects and individuals that smoke cigarettes, or have been diagnosed with COPD or asthma, with validation performed in Calu-3 airway epithelial cells. Gene expression data demonstrate that ABC transporters are variably expressed in epithelial cells from different airway generations, regulated by cigarette smoke exposure (ABCA13, ABCB6, ABCC1, and ABCC3), and differentially expressed in individuals with COPD and asthma (ABCA13, ABCC1, ABCC2, ABCC9). An in vitro cell culture model of cigarette smoke exposure was able to recapitulate select observed in situ changes. Our work highlights select ABC transporter candidates of interest and a relevant in vitro model that will enable a deeper understanding of the contribution of ABC transporters in the respiratory mucosa in lung health and disease.

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“…ABCA13 is an intriguing candidate as the expression levels are very high relative to other ABC family members, and there are no reports of endogenous or exogenous substrates, expression patterns in epithelium, or associations with respiratory mucosal immunology. Reports show associations between ABCA13 expression and cancers [35][36][37] , while ABCA13 variants are associated with mental health abnormalities 38,39 , although no mechanisms have been defined for either of these observations. Other ABCA family members are involved in lipid transport and dysregulation of their pathways can result in lung inflammation 40 .…”

Section: Discussionmentioning

confidence: 99%

The impact of cigarette smoke exposure, and COPD or asthma status on ABC transporter gene expression in human airway epithelial cells

Aguiar

Tamminga

Lobb

et al. 2018

Preprint

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Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder

Cited by 18 publications

References 4 publications

Similar and Different Gray Matter Deficits in Schizophrenia Patients and Their Unaffected Biological Relatives

Similar and Different Gray Matter Deficits in Schizophrenia Patients and Their Unaffected Biological Relatives

The impact of cigarette smoke exposure, COPD, or asthma status on ABC transporter gene expression in human airway epithelial cells

The impact of cigarette smoke exposure, and COPD or asthma status on ABC transporter gene expression in human airway epithelial cells

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