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http://purl.uniprot.org/citations/25843436http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Objectives

Intracellular calcium (Ca(2+)) dyshomeostasis (ICDH) has been implicated in bipolar disorder (BD) pathophysiology. We previously showed that SNP rs956572 in the B-cell CLL/lymphoma 2 (Bcl-2) gene associates with elevated B lymphoblast (BLCL) intracellular Ca(2+) concentrations ([Ca(2+)]B) differentially in BD-I. Genome-wide association studies strongly support the association between BD and the SNP rs1006737, located within the L-type voltage-dependent Ca(2+) channel α1C subunit gene (CACNA1C). Here we investigated whether this CACNA1C variant also associates with ICDH and interacts with SNP rs956572 on [Ca(2+)]B in BD-I.

Methods

CACNA1C SNP rs1006737 was genotyped in 150 BD-I, 65 BD-II, 30 major depressive disorder patients, and 70 healthy subjects with available BLCL [Ca(2+)]B and Bcl-2 SNP rs956572 genotype measures.

Results

SNP rs1006737 was significantly associated with BD-I. The [Ca(2+)]B was significantly higher in BD-I rs1006737 A compared with healthy A allele carriers and also in healthy GG compared with A allele carriers. There was no significant interaction between SNP rs1006737 and SNP rs956572 on [Ca(2+)]B.

Conclusions

Our study further supports the association of SNP rs1006737 with BD-I and suggests that CACNA1C SNP rs1006737 and Bcl-2 SNP rs956572, or specific causal variants in LD with these proxies, act independently to increase risk and ICDH in BD-I."xsd:string
http://purl.uniprot.org/citations/25843436http://purl.org/dc/terms/identifier"doi:10.3109/15622975.2015.1019360"xsd:string
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/author"Uemura T."xsd:string
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/author"Green M."xsd:string
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/author"Warsh J.J."xsd:string
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/name"World J Biol Psychiatry"xsd:string
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/pages"525-534"xsd:string
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/title"CACNA1C SNP rs1006737 associates with bipolar I disorder independent of the Bcl-2 SNP rs956572 variant and its associated effect on intracellular calcium homeostasis."xsd:string
http://purl.uniprot.org/citations/25843436http://purl.uniprot.org/core/volume"17"xsd:string
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