Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population

Xu, Wei; Liu, Yahui; Chen, Jianhua; Guo, Qingli; Liu, Ke; Wen, Zujia; Zhou, Zhaowei; Song, Zhijian; Zhou, Juan; He, Lin; Quan, Yi; Shi, Yongyong

doi:10.1186/s41065-017-0037-1

Cited by 14 publications

(10 citation statements)

References 37 publications

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“…The intronic SNP rs3788567 was identified with very high significance in an Ashkenazi Jewish population [176]. In a study of an Uyghur Chinese population that comprised 985 patients and 1218 neurotypical controls, six SNPs within CACNA1I were significantly associated with SCZ (rs132575, rs136805, rs713860, rs738168, rs5757760, rs575087) [265]. Furthermore, rs4522708, rs3788568, rs5750862 were significantly associated with SCZ in a Han Chinese population [266,267].…”

Section: Genetic Associations Between Cav Genes and Psychiatric DImentioning

confidence: 99%

Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders

Andrade

Brennecke

Mallat

et al. 2019

IJMS

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Psychiatric disorders are mental, behavioral or emotional disorders. These conditions are prevalent, one in four adults suffer from any type of psychiatric disorders world-wide. It has always been observed that psychiatric disorders have a genetic component, however, new methods to sequence full genomes of large cohorts have identified with high precision genetic risk loci for these conditions. Psychiatric disorders include, but are not limited to, bipolar disorder, schizophrenia, autism spectrum disorder, anxiety disorders, major depressive disorder, and attention-deficit and hyperactivity disorder. Several risk loci for psychiatric disorders fall within genes that encode for voltage-gated calcium channels (CaVs). Calcium entering through CaVs is crucial for multiple neuronal processes. In this review, we will summarize recent findings that link CaVs and their auxiliary subunits to psychiatric disorders. First, we will provide a general overview of CaVs structure, classification, function, expression and pharmacology. Next, we will summarize tools to study risk loci associated with psychiatric disorders. We will examine functional studies of risk variations in CaV genes when available. Finally, we will review pharmacological evidence of the use of CaV modulators to treat psychiatric disorders. Our review will be of interest for those studying pathophysiological aspects of CaVs.

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Section: Genetic Associations Between Cav Genes and Psychiatric DImentioning

confidence: 99%

Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders

Andrade

Brennecke

Mallat

et al. 2019

IJMS

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“…3 ). However, rs4522708 is not linked with other significant SNPs reported in previous study [ 30 ]. These LD analysis results suggested that several independent genetic variants in CACNAI1 were associated with SCZ.…”

Section: Discussionmentioning

confidence: 57%

“…Of note, a recent study also showed that genetic variants in CANCA1I were significantly associated with SCZ in Uighur Chinese population [ 30 ]. Six SNPs (rs132575, rs713860, rs738168, rs136805, rs5757760 and rs5750871) were found to be associated with SCZ in the study of Xu et al [ 30 ] We studied the linkage disequilibrium between these six SNPs and the SNP investigated in our study (i.e., rs4522708). We found that rs4522708 is linked with two previous reported SNPs (rs713860 and rs738168) (Fig.…”

Section: Discussionmentioning

confidence: 99%

Further evidence for the genetic association between CACNA1I and schizophrenia

Xie

Huang

et al. 2018

Hereditas

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BackgroundRecent large-scale genome-wide association studies (GWAS) have showed that the neuronal calcium signaling has pivotal roles in schizophrenia (SCZ) in populations of European of ancestry. However, it is not known if calcium signaling pathway genes are also associated with SCZ in Han Chinese population.MethodsHere we investigated the association between genetic variants in three calcium signaling pathway genes (CACNB2, CACNA1C and CACNA1I) and SCZ in 1615 SCZ cases and 1597 controls.ResultsA single nucleotide polymorphism (SNP) (rs4522708) in CACNA1I is significantly associated with SCZ in our Chinese sample (ORA allele = 1.19, corrected P = 0.042), suggesting that CACNA1I may also be a risk gene for SCZ in Chinese population. Of note, the risk allele (A allele) of SNP rs4522708 is same in European and Chinese populations. Meta-analysis of Chinese and European samples further strengthened the association of rs4522708 with SCZ (ORA allele = 1.074, P = 6.26 × 10−11). Expression analysis showed that CACNA1I was significantly up-regulated in hippocampus of SCZ cases compared with controls, implying that dysregulation of CACNA1I may have a role in schizophrenia pathogenesis.ConclusionsOur study suggests that CACNA1I is a risk gene for SCZ in Chinese population and provides further evidence that supports the potential role of neuronal calcium signaling in schizophrenia.

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“…This animal model will facilitate further investigations of the role of Cav3.3 channels in impaired sleep spindle and nRT function in SCZ. Additional CACNA1I variants have been identified in SCZ patients, confirming CACNA1I as a genetic risk factor in SCZ [95,163,164]. CACNA1I is also considered a risk gene in autism [93] and other complex neuropsychiatric disorders [128].…”

Section: Cacna1i/cav33 In Neurological/psychiatric Diseasesmentioning

confidence: 89%

Neuronal Cav3 channelopathies: recent progress and perspectives

Lory

Nicole

Monteil

2020

Pflugers Arch - Eur J Physiol

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T-type, low-voltage activated, calcium channels, now designated Cav3 channels, are involved in a wide variety of physiological functions, especially in nervous systems. Their unique electrophysiological properties allow them to finely regulate neuronal excitability and to contribute to sensory processing, sleep, and hormone and neurotransmitter release. In the last two decades, genetic studies, including exploration of knockout mouse models, have greatly contributed to elucidate the role of Cav3 channels in normal physiology, their regulation, and their implication in diseases. Mutations in genes encoding Cav3 channels (CACNA1G, CACNA1H, and CACNA1I) have been linked to a variety of neurodevelopmental, neurological, and psychiatric diseases designated here as neuronal Cav3 channelopathies. In this review, we describe and discuss the clinical findings and supporting in vitro and in vivo studies of the mutant channels, with a focus on de novo, gain-of-function missense mutations recently discovered in CACNA1G and CACNA1H. Overall, the studies of the Cav3 channelopathies help deciphering the pathogenic mechanisms of corresponding diseases and better delineate the properties and physiological roles Cav3 channels.

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Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population

Cited by 14 publications

References 37 publications

Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders

Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders

Further evidence for the genetic association between CACNA1I and schizophrenia

Neuronal Cav3 channelopathies: recent progress and perspectives

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