Highlights
- •We performed an association study of polymorphisms within SLC1A1 gene in a group of OCD patients and healthy controls.
- •The A-A-G (rs301434-rs3780412-rs301443) haplotype was associated with OCD.
- •Hoarding, Neutralization and Checking dimensions were associated with SLC1A1 variations.
- •Our results demonstrated that the SLC1A1 may contribute to some extent the susceptibility to OCD and its symptoms.
Abstract
The etiology of obsessive–compulsive disorder (OCD) is largely unknown, but family,
twin, neuroimaging, and pharmacological studies suggest that glutamatergic system
plays a significant role on its underlying pathophysiology. We performed an association
analysis of six Single Nucleotide Polymorphisms (SNPs) within SLC1A1 gene (rs12682807, rs2075627, rs3780412, rs301443, rs301430, rs301434) in a group
of 199 patients and 200 healthy controls. Symptom profiles were evaluated using the
Florida Obsessive-Compulsive Inventory (FOCI) and the Obsessive-Compulsive Inventory-Revised
(OCI-R). SNPs were analyzed by Taqman® methodology (Thermo Fisher, Brazil). The genotype
distributions were in Hardy-Weinberg equilibrium. The A-A-G (rs301434-rs3780412-rs301443)
haplotype was twice as common in OCD as in controls (P = 0.02). We also found significant differences between male patients and controls
for rs301443 in a dominant model (P = 0.04) and a protective effect of GG genotype of rs2072657 in women (P = 0.02). Regarding clinical characteristics, the G-A (rs301434-rs3780412) haplotype
was almost twice more common in patients with vs. without hoarding (P = 0.04). Further analyses showed significant associations between hoarding and rs301434
(P = 0.04) and rs3780412 (P = 0.04) in women, both in a dominant model. A dominant effect was also observed on
ordering dimension for rs301434 (P = 0.01, in women) and rs301443 (P = 0.04). Finally, the rs2072657 showed a recessive effect on neutralization (P = 0.04) and checking (P = 0.03, in men). These preliminary results demonstrated that the SLC1A1 may contribute to some extent the susceptibility to OCD and its symptoms. However,
additional studies are still needed.
Keywords
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Article info
Publication history
Published online: January 17, 2019
Accepted:
January 4,
2019
Received:
December 5,
2018
Footnotes
☆This work was supported by the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, Brazil; grant number 477658/2009-1 and 472033/2012-3), Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ, Brazil; grant number E-26/110.080/2010 and E-26/111.751/2012), and Pró-Reitoria de Pesquisa, Pós-Graduação e Inovação from Universidade Federal Fluminense (Proppi/PDI/UFF).
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