Association Between Polymorphisms of DNA Repair Genes and Risk of Schizophrenia

Odemis, Sibel; Tüzün, Erdem; Güleç, Handan; Semiz, Ümit Başar; Daşdemir, Selçuk; Küçük, Mutlu; Yalçınkaya, Nazli; Bireller, Elif Sinem; Çakmakoğlu, Bedia; Küçükali, Cem İsmail

doi:10.1089/gtmb.2015.0168

Cited by 29 publications

(18 citation statements)

References 30 publications

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“…The over‐expression of 8‐oxoguanine DNA glycosylase (OGG1) is the hallmark of the normal brain aging (Lu et al, ). It is reported that the interaction between OGG1 and X‐ray repair cross complementing 1 has been implicated in schizophrenia (Derakhshandeh, Saadat, Farrashbandi, & Saadat, ; Odemis et al, ; Psimadas et al, ; Saadat, Pakyari, & Farrashbandi, ) and autism spectrum disorder (Shpyleva et al, ; Xu, Rosales‐Reynoso, Barros‐Nunez, & Peprah, ; Young, McKinney, Ross, Wahle, & Boyle, ). It is found that the expression of OGG1 is increased in white matter oligodendrocytes of patients with MDD (Szebeni et al, ).…”

Section: Discussionmentioning

confidence: 99%

Seeking for potential pathogenic genes of major depressive disorder in the Gene Expression Omnibus database

Feng¹,

Zhou²,

Gao³

et al. 2019

Asia-Pacific Psychiatry

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Introduction: Major depressive disorder (MDD) is one of the most common mental disorders worldwide. The aim of this study was to identify potential pathological genes in MDD. Methods: We searched and downloaded gene expression data from the Gene Expression Omnibus database to identify differentially expressed genes (DEGs) in MDD. Then, Kyoto Encyclopedia of Genes and Genomes pathway, Gene Ontology analysis, and protein-protein interaction (PPI) network were applied to investigate the biological function of identified DEGs. The quantitative real-time polymerase chain reaction and a published dataset were used to validate the result of bioinformatics analysis. Results: A total of 514 DEGs were identified in MDD. In the PPI network, some hub genes with high degrees were identified, such as EEF2, RPL26L1, RPLP0, PRPF8, LSM3, DHX9, RSRC1, and AP2B1. The result of in vitro validation of RPL26L1, RSRC1, TOMM20L, RPLPO, PRPF8, AP2B1, STIP1, and C5orf45 was consistent with the bioinformatics analysis. Electronic validation of C5orf45, STIP1, PRPF8, AP2B1, and SLC35E1 was consistent with the bioinformatics analysis. Discussion: The deregulated genes could be used as potential pathological factors of MDD. In addition, EEF2, RPL26L1, RPLP0, PRPF8, LSM3, DHX9, RSRC1, and AP2B1 might be therapeutic targets for MDD. K E Y W O R D S drug target, gene expression, in vitro validation, major depressive disorder, protein-protein interaction network

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Section: Discussionmentioning

confidence: 99%

Seeking for potential pathogenic genes of major depressive disorder in the Gene Expression Omnibus database

Feng¹,

Zhou²,

Gao³

et al. 2019

Asia-Pacific Psychiatry

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“…Also, it was reported that XRCC1 gene (Arg399Gln) variant Gln399Gln genotype was associated with Sch in South Indian population (47). Odemis et al (48) showed that XRCC1 (Gln) and XRCC3 (Thr) alleles were signifi cantly more frequent among the patients with Sch than the controls.…”

Section: Discussionmentioning

confidence: 98%

eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia

Pehlıvan¹,

Uysal²,

Aydin³

et al. 2017

BLL

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BACKGROUND: This study aimed to evaluate whether VNTR variants in the Endothelial Nitric Oxide Synthase (eNOS) and the XRCC4 gene play any role in nicotine dependence (ND) and/or Schizophrenia+ND (Sch+ND) ethiopathogenesis. METHODS: Present study included 100 individuals with ND, 60 patients with Sch+ND, and 70 healthy controls. These variants were analyzed using PCR. RESULTS: The cases with ND had higher eNOS VNTR-BB genotype than the healthy control subjects (p = 0.001). eNOS-AA genotype was lower in cases with Sch+ND and ND groups compared to the controls (p = 0.001, p = 0.001, respectively). eNOS-B allele was found signifi cantly more frequently in Sch+ND group compared to the controls (p = 0.001). eNOS-A allele was signifi cantly lower in ND group than the controls (p = 0.001). XRCC4-ID genotype was more common in the ND group than the control group (p = 0.001) as heterozygosity disadvantage. XRCC4-DD genotype was more common in the Sch+ND group compared to the controls (p = 0.035). The frequency of XRCC4-I allele was lower in the Sch+ND group compared to the controls (p = 0.012). CONCLUSIONS: Our results showed that eNOS and XRCC4 VNTR variants might play a potential role in Sch+ND and/or ND pathophysiology (Tab. 2, Ref. 48). Text in PDF www.elis.sk.

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“…It was reported that biallelic mutations in human XRCC1 are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia [24]. It has been reported that XRCC1 rs25487 Gln/Gln and Arg/Gln genotypes were more common in patients with schizophrenia than healthy controls [25,26]. However, Celik et al and Czarny et al showed that XRCC1 rs25487 variant had no significant association with obsessive-compulsive disorder (OCD) and recurrent depressive disorder [27,28].…”

Section: Discussionmentioning

confidence: 99%

“…People with XPD 751Gln/Gln have been shown to manifest suboptimal DNA repair capacity to remove UV photoproducts when compared to the XPD 751Lys/Lys and Lys/Gln genotypes [8]. Odemis et al and Celik et al found that XPD Lys751Gln variant Lys/Lys genotype frequency was increased in patients with schizophrenia and in OCD comparison to controls [26,27]. In the present study, we showed that Gln/Gln genotype was higher in subjects with cannabis and/or synthetic cannabis dependence than in healthy controls.…”

Section: Discussionmentioning

confidence: 99%

Possible association between DNA repair gene variants and cannabis dependence in a Turkish cohort: a pilot study

Pehlıvan

Yazıcı

Kurnaz

et al. 2018

Psychiatry and Clinical Psychopharmacology

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OBJECTIVE: Substance use disorder (SUD) has important effects on health and well-being. It is well known that genetic factors play a role in SUD. The purpose of this research was to investigate whether functional variants of DNA repair genes might be a risk factor for cannabis and/or synthetic cannabis dependence in a Turkish cohort. METHODS: In total, 131 patients with cannabis and/or synthetic dependence and 70 healthy controls were included in this case-control study. XRCC1 codon 399 (rs25487) and XRCC4 G1394 T (rs6869366), and XPD (rs13181) variants were determined by the polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). RESULTS: The XRCC1 rs25487 GG genotype and G allele were significantly lower in patients compared to controls (p = 0.005; p = 0.002, respectively). XRCC4 rs6869366 TT genotype and T allele were more common in patients compared to controls (p = 0.001, p = 0.001, respectively). It was found that patients with XPD rs13181 Lys/Gln had a significantly higher risk of cannabis dependence than control did (p = 0.00). The subjects carried XPD rs13181 Gln/Gln genotype had a 2.2-fold increased risk for cannabis dependence (p = 0.010). CONCLUSIONS: We demonstrated for the first time that DNA repair gene variants may alter individual vulnerability for SUD. This observation could be of further interest to researchers, as it could suggest new candidate genes, presumably crucial for the etiopathogenesis of the cannabis and/or synthetic cannabis dependence. ARTICLE HISTORY

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Association Between Polymorphisms of DNA Repair Genes and Risk of Schizophrenia

Abstract: Our findings support XRCC1, XRCC3, hOGG1, and XPD as risk genes for schizophrenia and suggest that altered DNA repair functions may be involved in schizophrenia pathophysiology.

Cited by 29 publications

References 30 publications

Seeking for potential pathogenic genes of major depressive disorder in the Gene Expression Omnibus database

Seeking for potential pathogenic genes of major depressive disorder in the Gene Expression Omnibus database

eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia

Possible association between DNA repair gene variants and cannabis dependence in a Turkish cohort: a pilot study

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