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rs2799573

From SNPedia

Orientationminus
Stabilizedminus
Make rs2799573(A;A)
Make rs2799573(A;G)
Make rs2799573(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position18312999
GeneCACNB2
is asnp
is mentioned by
dbSNPrs2799573
ebirs2799573
HLIrs2799573
Exacrs2799573
Varsomers2799573
Maprs2799573
PheGenIrs2799573
hapmaprs2799573
1000 genomesrs2799573
hgdprs2799573
ensemblrs2799573
gopubmedrs2799573
geneviewrs2799573
scholarrs2799573
googlers2799573
pharmgkbrs2799573
gwascentralrs2799573
openSNPrs2799573
23andMers2799573
23andMe allrs2799573
SNP Nexus

SNPshotrs2799573
SNPdbers2799573
MSV3drs2799573
GWAS Ctlgrs2799573
Max Magnitude
? (A;A) (A;G) (G;G) 28
Association between rs2799573 and psychiatric disorders was shown in a 2013 study by the Cross-Disorder Group of the Psychiatric Genomics Consortium [PMID 23453885OA-icon.png]. In this study, genome-wide SNP data consisting of 1,250,922 autosomal SNPs were analyzed to identify genetic variants associated with autism spectrum disorder, ADHD, bipolar disorder, major depressive disorder, and schizophrenia. 33,332 cases and 27,888 controls included both unrelated and family-based samples (trios). A multinomial logistic regression procedure was used to identify the best-fitting model of relations between genotype and phenotype.

This SNP, on chromosome 10 in an intron of CACNB2, was one of four genome-wide significant signals associated with the five psychiatric disorders (p = 4.29 x 10-8). The risk allele T exhibited allele frequency of 0.715 in controls. CACNB2 encodes a voltage-gated calcium-channel subunit that interacts with other calcium-channel subunits to facilitate their function and increase peak calcium current. Although CACNB2 had not been previously identified as a risk gene for schizophrenia and bipolar disorder, its interactor CACNA1C, was known to be a susceptibility gene for bipolar disorder [PMID 21926972OA-icon.png], schizophrenia, and major depressive disorder [PMID 19621016OA-icon.png]. Effects of CACNA1C variants on emotion processing circuitry, attention, and memory were demonstrated in fMRI studies [PMID 20819988OA-icon.png][PMID 21078228]. Consistent with this, one of the four significant signals from the 2013 study lies within an intron of CACNA1C. Other peaks identified in this study were rs2535629 and rs11191454.

In addition, a variant within CACNB2 52 kb away from rs2799573 was one of the most significant signals in an independent GWAS of bipolar disorder in Han Chinese[PMID 20386566]. All samples analyzed in the Cross-Disorder Group of the Psychiatric Genomics Consortium study were of European ancestry.