TY - JOUR
T1 - Association analysis of SLC6A4 and HTR2A genes with obsessive-compulsive disorder
T2 - Influence of the STin2 polymorphism
AU - Gomes, Chayenne Karine Ferreira
AU - Vieira-Fonseca, Tamiris
AU - Melo-Felippe, Fernanda Brito
AU - de Salles Andrade, Juliana Braga
AU - Fontenelle, Leonardo F.
AU - Kohlrausch, Fabiana Barzotti
PY - 2018/4/1
Y1 - 2018/4/1
N2 - Background Obsessive-Compulsive Disorder (OCD) is a complex and chronic disorder characterized by recurrent thoughts and/or repetitive behaviors. Given the potent anti-obsessional effects of the so-called serotonin reuptake inhibitors, genes related to serotonergic system may be well implicated in the etiopathogenesis of OCD. The gene encoding the serotonin transporter (SLC6A4), which shows a variable number of tandem repeat (VNTR) polymorphism in intron 2 (STin2), have been previously associated with OCD. Additionally, the serotonin 2A receptor gene (HTR2A) has two polymorphisms (A-1438G - rs6311, and T102C - rs6313), which have also been overrepresented among OCD patients. Therefore, the aim of this study is to evaluate the association of these three polymorphisms with OCD, through the examination of potential sources of heterogeneity in previous studies including age of onset, sex and symptom dimensions. Methods Polymorphisms were genotyped by Polymerase Chain Reaction (PCR) in a sample of 203 OCD patients and 205 healthy controls from Brazil. Results Although we did not observe any statistically significant association between the HTR2A gene polymorphisms and OCD or its clinical features, SLC6A4 STin2 polymorphism was significantly more common among OCD patients as compared to health controls. Further, a significant association between the STin2.12 allele and OCD, as well as a dominant effect of the STin2.12 allele in OCD was seen. Of note, late-onset (> 18 years) OCD was significantly more often seen in association with homozygosis for STin2.12 allele. No significant associations were observed with different OCD symptom dimensions. Conclusion Our results indicate an important influence of the STin2 polymorphism in OCD, but more studies are warranted to confirm these results.
AB - Background Obsessive-Compulsive Disorder (OCD) is a complex and chronic disorder characterized by recurrent thoughts and/or repetitive behaviors. Given the potent anti-obsessional effects of the so-called serotonin reuptake inhibitors, genes related to serotonergic system may be well implicated in the etiopathogenesis of OCD. The gene encoding the serotonin transporter (SLC6A4), which shows a variable number of tandem repeat (VNTR) polymorphism in intron 2 (STin2), have been previously associated with OCD. Additionally, the serotonin 2A receptor gene (HTR2A) has two polymorphisms (A-1438G - rs6311, and T102C - rs6313), which have also been overrepresented among OCD patients. Therefore, the aim of this study is to evaluate the association of these three polymorphisms with OCD, through the examination of potential sources of heterogeneity in previous studies including age of onset, sex and symptom dimensions. Methods Polymorphisms were genotyped by Polymerase Chain Reaction (PCR) in a sample of 203 OCD patients and 205 healthy controls from Brazil. Results Although we did not observe any statistically significant association between the HTR2A gene polymorphisms and OCD or its clinical features, SLC6A4 STin2 polymorphism was significantly more common among OCD patients as compared to health controls. Further, a significant association between the STin2.12 allele and OCD, as well as a dominant effect of the STin2.12 allele in OCD was seen. Of note, late-onset (> 18 years) OCD was significantly more often seen in association with homozygosis for STin2.12 allele. No significant associations were observed with different OCD symptom dimensions. Conclusion Our results indicate an important influence of the STin2 polymorphism in OCD, but more studies are warranted to confirm these results.
UR - http://www.scopus.com/inward/record.url?scp=85040367487&partnerID=8YFLogxK
U2 - 10.1016/j.comppsych.2017.12.004
DO - 10.1016/j.comppsych.2017.12.004
M3 - Article
AN - SCOPUS:85040367487
VL - 82
SP - 1
EP - 6
JO - Comprehensive Psychiatry
JF - Comprehensive Psychiatry
SN - 0010-440X
ER -