TY  - JOUR
TI  - Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia
AB  - Background: RASD1 encodes Dexamethasone-induced Ras-related  protein 1 (Dexras1), a protein with a critical role in signal transduction  in neurons. There is a strong suspicion that dysfunction of Dexras1  might contribute to the pathogenesis of neuropsychiatric diseases.  Related to its functions in intracellular signaling pathways, Dexras1  has a potential role in the etiology of schizophrenia because of its  close interaction with NOS1, NOS1AP, and NMDAR, which have  previously been associated with schizophrenia. Aims: To investigate the association of RASD1 variants with  schizophrenia in a selected cohort from Turkey. Study Design: A case-control study. Methods: We performed targeted sequencing for the two exons, single  intron, and untranslated regions of RASD1 gene in 200 individuals  with schizophrenia and 100 healthy controls of Turkish origin. Results: Two rare variants, RASD1 (NM_016084.5): c.722A>T and  c*31G>A were identified in individuals with schizophrenia but not  in any controls. The c.722A>T was found in a single individual with  schizophrenia and is a missense heterozygous variant in the second  exon of RASD1, which is extremely rare in GnomAD. The other  variant, c*31G>A, which was found in another individual from  this schizophrenia cohort, has not been reported previously. Seven  previously identified common single nucleotide polymorphisms were  also detected; however, they were not significantly associated with  schizophrenia in this study cohort. Conclusion: Our findings suggest that rare variants of RASD1 might be  contributing to the etiopathogenesis of schizophrenia. Further studies  are needed to elucidate the underlying mechanism of this association.
AU  - Durmaz, Ceren Damla
AU  - Atbasoglu, E. Cem
AU  - ILGIN RUHİ, Hatice
AU  - KARABULUT, HALIL GÜRHAN
AU  - SAKA, MERAM CAN
AU  - SUCULARLI, Ceren
AU  - Gumus-Akay, Guvem
DO  - 10.4274/balkanmedj.galenos.2022.2022-5-90
PY  - 2022
JO  - Balkan Medical Journal
VL  - 39
IS  - 6
SN  - 2146-3123
SP  - 422
EP  - 428
DB  - TRDizin
UR  - http://search/yayin/detay/1174327
ER  -