Fevzi Tuna Ocakoğlu1, Sezen Köse2, Burcu Özbaran3, Hüseyin Onay4. 1. Batman District State Hospital, Child Psychiatry Outpatient Clinic, MA: 72070, Batman, Turkey. Electronic address: dr.tunaocakoglu@gmail.com. 2. Department of Child and Adolescent Psychiatry, Ege University School of Medicine, Bornova, Izmir, Turkey. Electronic address: sezengokcen@hotmail.com. 3. Department of Child and Adolescent Psychiatry, Ege University School of Medicine, Bornova, Izmir, Turkey. Electronic address: drbbeker@yahoo.com. 4. Department of Medical Genetic, Ege University School of Medicine, Bornova, Izmir, Turkey. Electronic address: huseyin.onay@ege.edu.tr.
Abstract
INTRODUCTION: Previous studies showed the association of Autism Spectrum Disorder (ASD) and oxytocin receptor (OXTR) gene. We aimed to explore the OXTR gene single nucleotide polymorphisms (SNPs) across the ASD severity categories based on DSM-5. METHOD: The whole encoding regions of the human OXTR gene were sequenced to identify the SNPs in 100 Turkish children with ASD. Genotypes of detected SNPs were also compared with the Childhood Autism Rating Scale (CARS) scores. RESULTS: Disease severity of the patients carrying GA and AA genotypes (GA/AA) of rs237902 were found more severe compared to those carrying GG genotype (χ2 = 6.456, df = 2, p = .040). This finding was more powerful in boys (χ2 = 9.288, df = 2, p = .010). Similarly, GA/AA genotypes of rs237902 were found associated with higher CARS scores in boys (U = 650.5, r = 0.24, p = .021). CONCLUSION: Significant relationship between the ASD severity categories of DSM-5 and rs237902 was shown for the first time.
INTRODUCTION: Previous studies showed the association of Autism Spectrum Disorder (ASD) and oxytocin receptor (OXTR) gene. We aimed to explore the OXTR gene single nucleotide polymorphisms (SNPs) across the ASD severity categories based on DSM-5. METHOD: The whole encoding regions of the humanOXTR gene were sequenced to identify the SNPs in 100 Turkish children with ASD. Genotypes of detected SNPs were also compared with the Childhood Autism Rating Scale (CARS) scores. RESULTS: Disease severity of the patients carrying GA and AA genotypes (GA/AA) of rs237902 were found more severe compared to those carrying GG genotype (χ2 = 6.456, df = 2, p = .040). This finding was more powerful in boys (χ2 = 9.288, df = 2, p = .010). Similarly, GA/AA genotypes of rs237902 were found associated with higher CARS scores in boys (U = 650.5, r = 0.24, p = .021). CONCLUSION: Significant relationship between the ASD severity categories of DSM-5 and rs237902 was shown for the first time.
Authors: Sara M Freeman; Michelle C Palumbo; Rebecca H Lawrence; Aaron L Smith; Mark M Goodman; Karen L Bales Journal: Transl Psychiatry Date: 2018-12-04 Impact factor: 6.222
Authors: Galina V Shmarina; Elizaveta S Ershova; Natalia V Simashkova; Svetlana G Nikitina; Julia M Chudakova; Natalia N Veiko; Lev N Porokhovnik; Anna Y Basova; Antonina F Shaposhnikova; Daria A Pukhalskaya; Vladimir M Pisarev; Natalia J Korovina; Natalia L Gorbachevskaya; Olga A Dolgikh; Marina Bogush; Sergey I Kutsev; Svetlana V Kostyuk Journal: J Neuroinflammation Date: 2020-07-16 Impact factor: 8.322