rs3780412

Case-control association study examining six SNPs in the SLC1A1 (glutamate transporter) gene in 615 Korean OCD patients and 508 healthy controls. While no significant associations were found between individual SNPs or haplotypes and OCD status (all p > 0.05), the C-T-G haplotype at rs301430-rs301434-rs3087879 was significantly associated with higher personal distress scores (p = 0.0419). Results suggest SLC1A1 variants may not contribute to OCD development but may influence trait empathy dimensions.

Case-control study of 325 OCD probands and 662 controls identifying a three-SNP haplotype (rs3087879, rs301430, rs7858819) significantly associated with obsessive-compulsive disorder (odds ratio 1.89, p=0.001). rs301430 was confirmed as a functional expression quantitative trait locus, and rs3933331 showed association with OCD-related hoarding symptoms. The findings implicate SLC1A1, encoding the neuronal glutamate transporter, as a susceptibility gene for OCD.

A case-control study of 438 OCD patients and 465 controls from the Chinese Han population examined four SLC1A1 SNPs (rs10491734, rs3780412, rs301434, rs3087879). Rs301434 genotypes showed significant associations with total OCD (χ²=9.948, P=0.007), early-onset OCD (P=0.011), late-onset OCD (P=0.012), and male OCD (P=0.013). Rs3780412 was associated with late-onset OCD (P=0.027 for genotype, P=0.018 for allele). Haplotype analysis found G-A-A-G and G-G-A-G haplotypes associated with total OCD (OR=1.412), with gender and age-specific associations.

This family-based association study tested three SLC1A1 SNPs (rs301430, rs301979, rs301434) previously associated with OCD for association with autism in 86 trios. The G allele of rs301979 was undertransmitted to individuals with autism under the FBAT recessive model (Z = -2.47, P = 0.01), equivalent to overtransmission of the C allele under a dominant model. A T/G haplotype (rs301430-rs301979) was also nominally undertransmitted under the recessive model. These findings persisted in males but did not survive multiple comparisons correction.