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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한정신약물학회 Clinical Psychopharmacology and Neuroscience Clinical Psychopharmacology and Neuroscience 제16권 제4호
- 발행연도
- 2018.1
- 수록면
- 415 - 421 (7page)
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초록· 키워드
오류제보하기
Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.
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참고문헌 (3)
참고문헌 신청
Vorstman JA / 2006 / Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism / Mol Psychiatry 11(1):18~28
이연정 / 2014 / Advanced Pharmacotherapy Evidenced by Pathogenesis of Autism Spectrum Disorder / Clinical Psychopharmacology and Neuroscience 12(1):19~30
홍은표 / 2012 / Sample Size and Statistical Power Calculation in Genetic Association Studies / Genomics & Informatics 10(2):117~122
이연정 / 2014 / Advanced Pharmacotherapy Evidenced by Pathogenesis of Autism Spectrum Disorder / Clinical Psychopharmacology and Neuroscience 12(1):19~30
홍은표 / 2012 / Sample Size and Statistical Power Calculation in Genetic Association Studies / Genomics & Informatics 10(2):117~122
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