Study Report

Basic Info

Reference	Uemura, T., 2015 PMID: 25843436
Citation	Uemura, T., M. Green, et al. (2015). "CACNA1C SNP rs1006737 associates with bipolar I disorder independent of the Bcl-2 SNP rs956572 variant and its associated effect on intracellular calcium homeostasis." World J Biol Psychiatry: 1-10.
Disease Type	Bipolar Disorder & Major Depressive Disorder
Study Design	case-control
Study Type	candidate-gene association study
Sample Size	150 BD-I, 65 BD-II, 30 major depressive disorder patients, and 70 healthy subjects
SNP/Region/Marker Size	1 SNP
Predominant Ethnicity

Detail Info

Sample Diagnosis	Psychiatric diagnoses were confirmed using the Structured Clinical Interview for DSM -IV Axis I Disorders (SCID-I), patient edition.
Sample Status	Patients and age- and sex-matched healthy subjects were recruited from the greater Toronto area as previously described. Briefly, there were no significant differences in age or sex among comparison groups; age at onset (AA O) was earlier in BD-II patients (18.1, sd=7.5 years) compared with MDD patients. Selected clinical features including age, AA O, types of psychiatric comorbidity, family history of mood disorders (first-degree relatives), history of psychosis and grouped antibipolar medication at time of interview.
Technique	genotyping
Statistical Method	Fisherâ€™s exact test
Result Summary	NP rs1006737 was significantly associated with BD-I. The [Ca2+]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 [Ca2+]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.

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 1)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs1006737	CACNA1C			genotypic P-value=0.89, X²=0.24 for BD-II patients, P-value=0.035, X²²=0.29, OR (95%CI)=1.15 (0.69-1.93) for BD-II patients, P-value=0.15, X²=2.11, OR (95%CI)=1.38 (0.89-2.13) for BD-I patients	no significant differences were observed in the genotype fre...... no significant differences were observed in the genotype frequencies compared with healthy subjects among BD-II patients. CACNA1C SN P rs1006737 was significantly associated with BD-I in genotype frequency. However, allele frequencies were not significantly different in BD-I, BD-II compared with healthy subjects. More...	Positive

Genes reported by this study for BD (count: 1)

Gene	Statistical Values/Author Comments	Result Category
CACNA1C	Our study further supports the association of SNP rs1006737 with BD-I and suggests that CACNA1C SNP ...... 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. More...	Positive

Genetic factors reported by this study for SZ and/or MDD

SNPs reported by this study for SZ/MDD

Disease	SNP	Related Gene(s)	Statistical Values	Description	Result Category
MDD	rs1006737	CACNA1C	genotypic P-value=0.33, X²=2.23; allelic P-value=0.39, X²=0.75, OR (95%CI)=0.73 (0.36-1.48)	no significant differences were observed in the genotype frequencies compared with healthy subjects among MDD patients. However, allele frequencies were not significantly different in MDD compared with healthy subjects.	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
MDD	CACNA1C	no significant differences were observed in this study.	Negative