[HTML][HTML] Structural characterization of a polymorphic repeat at the CACNA1C schizophrenia locus

R Moya, X Wang, RW Tsien, MT Maurano - medRxiv, 2024 - ncbi.nlm.nih.gov
Genetic variation within intron 3 of the CACNA1C calcium channel gene is associated with
schizophrenia and bipolar disorder, but analysis of the causal variants and their effect is …

Functional Characterization of Schizophrenia-Associated Variation in CACNA1C

N Eckart, Q Song, R Yang, R Wang, H Zhu… - PLoS …, 2016 - journals.plos.org
Calcium channel subunits, including CACNA1C, have been associated with multiple
psychiatric disorders. Specifically, genome wide association studies (GWAS) have …

[PDF][PDF] Characterization of a human-specific tandem repeat associated with bipolar disorder and schizophrenia

JHT Song, CB Lowe, DM Kingsley - The American Journal of Human …, 2018 - cell.com
Bipolar disorder (BD) and schizophrenia (SCZ) are highly heritable diseases that affect more
than 3% of individuals worldwide. Genome-wide association studies have strongly and …

A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study

X Guo, S Wang, X Lin, Z Wang, Y Dou, Y Cao… - Psychiatric …, 2023 - journals.lww.com
Objectives Numerous genome-wide association studies have identified CACNA1C as one of
the top risk genes for schizophrenia. As a necessary post-genome-wide association study …

Pleiotropic CACNA1C Variants and Neuronal Function in Psychosis

AR Docherty - Schizophrenia Bulletin, 2023 - academic.oup.com
Thanks to the ongoing global efforts of genomics consortia, genome-wide association
studies are increasingly providing common variant genetic data that may be integrated with …

Case–case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes

D Curtis, AE Vine, A McQuillin, NJ Bass… - Psychiatric …, 2011 - journals.lww.com
Objective There are theoretical reasons why comparing marker allele frequencies between
cases of different diseases, rather than with controls, may offer benefits. The samples may …

An independent, replicable, functional and significant risk variant block at intron 3 of CACNA1C for schizophrenia

Z Wang, W Chen, Y Cao, Y Dou, Y Fu… - Australian & New …, 2022 - journals.sagepub.com
Objectives: Genome-wide association studies have identified a significant risk gene,
CACNA1C, for schizophrenia. In this study, we comprehensively investigated a large set of …

Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort

D Baez-Nieto, A Allen, S Akers-Campbell, L Yang… - Brain, 2022 - academic.oup.com
CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic
association studies of single nucleotide polymorphisms. However, the channelopathy of …

Characterizing rare mis-sense variations of CACNA1I identified in a Swedish schizophrenia cohort

J Pan, A Allen, D Daez - European Psychiatry, 2016 - cambridge.org
CACNA1I (hCaV3. 3) encodes the α1 pore-forming subunit of human voltage-gated T-type
calcium channels. CaV3. 3 is expressed in a limited subset of neurons including GABAergic …

CACNA1C risk variant is associated with increased amygdala volume

TM Lancaster, S Foley, KE Tansey, DEJ Linden… - European archives of …, 2016 - Springer
Genome-wide association studies suggest that genetic variation within L-type calcium
channel subunits confer risk to psychosis. The single nucleotide polymorphism at rs1006737 …