ISSN 1302-6631
 

Original Research (Original Article) 


Evaluation of RELN gene polymorphism in children with autism spectrum disorder

Nilfer Şahin, Murat Kara, Bilge Kara, Hatice Topal.

Abstract
Objective: With increasing frequency of autism spectrum disorder (ASD) in recent years, etiology has not yet been fully elucidated. Multiple hypotheses have been proposed to explain autism etiology including genetic, neurobiology-cal, psychosocial factors, environmental or iatrogenic causes. In this study, it was aimed to evaluate the relationship between OSB and RELN gene polymorphism. Methods: The present study included 62 children with ASD diag-nosed by DSM-5 criteria, aged between 3 and 12 years and 64 age and gender-matched healthy controls. Sociode-mographic Data Form was given in both groups and the Childhood Autism Rating Scale was administered to assess the severity of autism. Two single-nucleotide polymorphisms of reelin gene (rs1270519, rs362691) were genotyped using real-time PCR. Results: Of the 62 OSB cases included in the study, 57 were males (92%) and 5 were females (8%); of the 64 cases included in the control group, 52 were male (81%) and 12 were female (19%). The mean age of the patient group was 5.54±3.13, while the mean age of the control group was 6.43±4.04. There was no significant difference between the patient and control group in terms of sex and age. There was a statistically significant difference in rs1270519 polymorphism between ASD patients and healthy controls, but there was no significant differ-ence in terms of rs362691 between the two groups. Discussion: The results of this study show that the RELN gene rs1270519 polymorphism may be associated with ASD in the Turkish population. In order to clarify the relationship between ASD and RELN, there is a need for further studies that is evaluate other polymorphisms.

Key words: etiology, gene, autism spectrum disorders, RELN



Otizm spektrum bozukluğu olan çocuklarda RELN gen polimorfizminin değerlendirilmesi

Ozet
Amaç: Otizm spektrum bozukluğu (OSB) sıklığı son yıllarda giderek artmakla birlikte, henüz etiyolojisi tam olarak aydınlatılamamıştır. Bozukluğun etiyolojisinde genetik, nörobiyolojik, ruhsal-toplumsal etkenler, çevresel veya iyat-rojenik nedenlerin rol oynadığına ilişkin birçok hipotez öne sürülmüştür. Bu çalışmada OSB ile RELN gen polimorfiz-mi arasındaki ilişkinin değerlendirilmesi amaçlanmıştır. Yöntem: Çalışmaya DSM-5 tanı ölçütlerine göre OSB tanısı konmuş olan 3-12 yaşları arasındaki 62 hasta ile yaş ve cinsiyet olarak hasta grubuyla eşleştirilmiş 64 sağlıklı çocuk alındı. İki gruptaki olguları sorgulayan Sosyodemografik Veri Formu verildi ve otizm şiddetini değerlendirmek için Çocukluk Otizmini Değerlendirme Ölçeği uygulandı. Reelin geninin iki tek nükleotid polimorfizmi (rs1270519, rs362691), real-time PCR kullanılarak genotiplendi. Bulgular: Çalışmaya alınan 62 OSB’li olgunun 57’si erkek (%92), beşi kız (%8); kontrol grubuna alınan 64 olgunun 52’si erkek (%81), 12’si kız (%19) idi. Hasta grubunun yaş ortalaması 5.54±3.13, kontrol grubunun yaş ortalaması 6.43±4.04 yıldı. Hasta ve kontrol grubu arasında cinsiyet ve yaş açısından anlamlı farklılık saptanmadı. OSB’li hastalarda rs1270519 polimorfizminde sağlıklı kontrollere göre istatistiksel olarak anlamlı fark saptanırken, rs362691 açısından iki grup arasında anlamlı fark saptanmadı. Tartış-ma: Bu çalışmanın sonuçları RELN gen rs1270519 polimorfizminin Türk popülasyonunda OSB ile ilişkili olabilece-ğini göstermektedir. OSB ile RELN arasındaki ilişkinin aydınlatılabilmesi için farklı polimorfizmlerin de çalışıldığı daha geniş çaplı çalışmalara gerek vardır.

Anahtar Kelimeler: etiyoloji, gen, otizm spektrum bozuklukları, RELN


 
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How to Cite this Article
Pubmed Style

Sahin N, Kara M, Kara B, Topal H. [Evaluation of RELN gene polymorphism in children with autism spectrum disorder]. Anadolu Psikiyatri Derg. 2018; 19(6): 599-606. Turkish. doi:10.5455/apd.292500


Web Style

Sahin N, Kara M, Kara B, Topal H. [Evaluation of RELN gene polymorphism in children with autism spectrum disorder]. http://www.anadolupsikiyatri.net/?mno=292500 [Access: November 13, 2018]. Turkish. doi:10.5455/apd.292500


AMA (American Medical Association) Style

Sahin N, Kara M, Kara B, Topal H. [Evaluation of RELN gene polymorphism in children with autism spectrum disorder]. Anadolu Psikiyatri Derg. 2018; 19(6): 599-606. Turkish. doi:10.5455/apd.292500



Vancouver/ICMJE Style

Sahin N, Kara M, Kara B, Topal H. [Evaluation of RELN gene polymorphism in children with autism spectrum disorder]. Anadolu Psikiyatri Derg. (2018), [cited November 13, 2018]; 19(6): 599-606. Turkish. doi:10.5455/apd.292500



Harvard Style

Sahin, N., Kara, . M., Kara, . B. & Topal, . H. (2018) [Evaluation of RELN gene polymorphism in children with autism spectrum disorder]. Anadolu Psikiyatri Derg, 19 (6), 599-606. Turkish. doi:10.5455/apd.292500



Turabian Style

Sahin, Nilfer, Murat Kara, Bilge Kara, and Hatice Topal. 2018. [Evaluation of RELN gene polymorphism in children with autism spectrum disorder]. Anatolian Journal of Psychiatry, 19 (6), 599-606. Turkish. doi:10.5455/apd.292500



Chicago Style

Sahin, Nilfer, Murat Kara, Bilge Kara, and Hatice Topal. "[Evaluation of RELN gene polymorphism in children with autism spectrum disorder]." Anatolian Journal of Psychiatry 19 (2018), 599-606. Turkish. doi:10.5455/apd.292500



MLA (The Modern Language Association) Style

Sahin, Nilfer, Murat Kara, Bilge Kara, and Hatice Topal. "[Evaluation of RELN gene polymorphism in children with autism spectrum disorder]." Anatolian Journal of Psychiatry 19.6 (2018), 599-606. Print.Turkish. doi:10.5455/apd.292500



APA (American Psychological Association) Style

Sahin, N., Kara, . M., Kara, . B. & Topal, . H. (2018) [Evaluation of RELN gene polymorphism in children with autism spectrum disorder]. Anatolian Journal of Psychiatry, 19 (6), 599-606. Turkish. doi:10.5455/apd.292500





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