Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia

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 signal...

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Veröffentlicht in:Balkan medical journal 2022-11, Vol.39 (6), p.422-428
Hauptverfasser: Durmaz, Ceren Damla, Karabulut, Halil Gürhan, Saka, Meram Can, Sucularlı, Ceren, Gümüş Akay, Güvem, Atbaşoğlu, Cem, Ilgın Ruhi, Hatice
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Sprache:eng
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Zusammenfassung: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. To investigate the association of variants with schizophrenia in a selected cohort from Turkey. A case-control study. We performed targeted sequencing for the two exons, single intron, and untranslated regions of gene in 200 individuals with schizophrenia and 100 healthy controls of Turkish origin. Two rare variants, (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 , 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. Our findings suggest that rare variants of might be contributing to the etiopathogenesis of schizophrenia. Further studies are needed to elucidate the underlying mechanism of this association.
ISSN:2146-3123
2146-3131
2146-3131
DOI:10.4274/balkanmedj.galenos.2022.2022-5-90