title: The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.
abstract: Classical autism belongs to a group of heterogeneous disorders known as autism spectrum disorders (ASD). Autism is defined as a neurodevelopmental disorder, characterized by repetitive stereotypic behaviors or restricted interests, social withdrawal, and communication deficits. Numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism but the etiology of this disorder is unknown in many cases. CC2D1A gene has been linked to mental retardation (MR) in a family with a large deletion before. Intellectual disability (ID) is a common feature of autistic cases. Therefore we aimed to investigate the expressions of CC2D1A and HTR1A genes with the diagnosis of autism in Turkey. Forty-four autistic patients (35 boys, 9 girls) and 27 controls were enrolled and obtained whole blood samples to isolate RNA samples from each participant. CC2D1A and HTR1A gene expressions were assessed by quantitative Real-Time PCR (qRT-PCR) in Genome and Stem Cell Center, Erciyes University. Both expressions of CC2D1A and HTR1A genes studied on ASD cases and controls were significantly different (p < 0.001). The expression of HTR1A was undetectable in the ASD samples. Comparison of ID and CC2D1A gene expression was also found statistically significant (p = 0.028). CC2D1A gene expression may be used as a candidate gene for ASD cases with ID. Further studies are needed to investigate the potential roles of these CC2D1A and HTR1A genes in their related pathways in ASD.
authors.affiliation: Department of Medical Biology, Erciyes University Medical School, 38039, Kayseri, Turkey. efefunda@yahoo.com.|Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey. efefunda@yahoo.com.
authors.forename: Elif Funda
authors.initials: EF
authors.lastname: Sener
authors.affiliation: Department of Child Psychiatry, Education and Research Hospital, Kayseri, Turkey.
authors.forename: Merve
authors.initials: M
authors.lastname: Cıkılı Uytun
authors.affiliation: Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey.|Department of Medical Genetics, Erciyes University Medical School, 38039, Kayseri, Turkey.
authors.forename: Keziban
authors.initials: K
authors.lastname: Korkmaz Bayramov
authors.affiliation: Department of Biostatistics, Erciyes University Medical School, 38039, Kayseri, Turkey.
authors.forename: Gokmen
authors.initials: G
authors.lastname: Zararsiz
authors.affiliation: Department of Child Psychiatry, Surp Pirgic Armenian Hospital, Istanbul, Turkey.
authors.forename: Didem Behice
authors.initials: DB
authors.lastname: Oztop
authors.affiliation: Department of Medical Biology, Erciyes University Medical School, 38039, Kayseri, Turkey.
authors.forename: Halit
authors.initials: H
authors.lastname: Canatan
authors.affiliation: Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey.|Department of Medical Genetics, Erciyes University Medical School, 38039, Kayseri, Turkey.
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Ozkul
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D044282:Receptor, Serotonin, 5-HT1A / Q000235:genetics*
chemical_list: C512283:CC2D1A protein, human; D004268:DNA-Binding Proteins; C583518:HTR1A protein, human; D044282:Receptor, Serotonin, 5-HT1A
keywords: Autism; Autism spectrum disorders; CC2D1A; Expression; HTR1A