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rs12682807

From SNPedia

Orientationplus
Stabilizedplus
Make rs12682807(A;A)
Make rs12682807(A;C)
Make rs12682807(C;C)
ReferenceGRCh37.p5 37.3/137
Chromosome9
Position4574022
GeneSLC1A1
is asnp
is mentioned by
dbSNPrs12682807
ebirs12682807
HLIrs12682807
Exacrs12682807
Varsomers12682807
Maprs12682807
PheGenIrs12682807
hapmaprs12682807
1000 genomesrs12682807
hgdprs12682807
ensemblrs12682807
gopubmedrs12682807
geneviewrs12682807
scholarrs12682807
googlers12682807
pharmgkbrs12682807
gwascentralrs12682807
openSNPrs12682807
23andMers12682807
23andMe allrs12682807
SNP Nexus

SNPshotrs12682807
SNPdbers12682807
MSV3drs12682807
GWAS Ctlgrs12682807
GMAF0.1189
Max Magnitude
? (A;A) (A;C) (C;C) 28
This SNP is located in the intronic region of the SLC1A1 transporter gene. While the mechanism is unknown, it is associated with Obsessive compulsive disorder (OCD). OCD is an anxiety disorder where symptoms include repetitive behaviors aimed at decreasing anxiety.

SLC1A1 is a candidate gene that has been the focus of many studies. Elevated glutamate levels have been found in the cerebrospinal fluid of many OCD patients, and since SLC1A1 affects glutamate transport – it is a likely candidate for study. SLC1A1 is expressed in the brain, and OCD is associated with neural changes. [PMID 23606572]

Rs12682807 is located in chr9:4564022 in the intronic region. It is an A to C transition. A study [PMID 23606572] looked at 21 SNPs in Europeans and originally found no correlation between rs12682807 and OCD (815 trios, 306 cases and 634 controls). However, upon later stratifying the family and case-control datasets by gender, they found that rs12682807 had a nominally significant uncorrected pvalue in males only (uncorrected P = 0.012, N = 358 trios and 133 cases). This association did not survive multiple testing correction.

Another study [PMID 17894418] looked at 13 SNPs in Europeans and the correlation of OCD and found n o single marker associations (Families of 66 probands meeting DSM-IV criteria for OCD were included in analyses). However, a three-marker haplotype spanning 4.2 KB and including the intronic SNP rs12682807, intronic SNP rs2072657, and synonymous exonic SNP rs301430, was associated with the OCD phenotype (P = 0.0043 or P = 0.0069 depending on rs2072657 SNP). The authors tested 10 different haplotype patterns.

These results are not significant based on the P-value of the experiments done and the number of hypotheses tested. More studies are needed to determine the association of OCD with rs12682807; however, current studies show (as evidence shown above) weak to no association of this SNP with OCD.