|| common in clinvar
|?|| (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.