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

Uysal

Arch. Clin. Psychiatry (São Paulo)

et al. 2018

Background: Oxidative stress induced DNA damage has been assumed to contribute to the etiopathogenesis of schizophrenia (Sch). Smoking prevalence was more common in patients with Sch. The X-ray repair cross-complementation group 4 (XRCC4) gene plays an important role in the repair of DNA double-strand breaks. Objective: The purpose of this study was to investigate whether XRCC4 rs6869366 polymorphism has a relationship both in nicotine dependence (ND) and Sch+ND risk. Methods: One hundred and four patients with Sch+ND, 133 subjects with ND only and 70 healthy controls were enrolled in the study. XRCC4 rs6869366 polymorphism was analyzed using PCR-RFLP assay. Results: The frequency of XRCC4 rs6869366 GG genotype was more common in the ND and Sch+ND group than controls (p = 0.001 and p = 0.001, respectively). XRCC4 rs6869366 TT genotype was lower in both ND and Sch+ND group compared to controls (p = 0.001 and p = 0.001, respectively). Also, XRCC4 rs6869366 G allele was higher in Sch+ND group than controls (p = 0.001) while XRCC4 rs6869366 T allele was lower in ND group than healthy controls (p=0.001). XRCC4 rs6869366 GT genotype was lower in ND group than control group (p = 0.003). Discussion: These results suggested that the XRCC4 rs6869366 polymorphism G related genotype/allele was associated with susceptibility to both ND and Sch+ND in a Turkish population.

Section: Discussionmentioning

confidence: 88%

XRCC4 rs6869366 polymorphism is associated with susceptibility to both nicotine dependence and/or schizophrenia

Uysal

Arch. Clin. Psychiatry (São Paulo)

et al. 2018

“…Despite numerous studies conducted on XRCC4 variants and their association with psychiatric diseases, results remain uncertain. We also previously showed that XRCC4 intron 3 VNTR variant DD genotype was associated with schizophrenia + nicotine dependence [29]. The G1394T variant is located in the promoter region of the XRCC4 gene, and even the most subtle differences of the promoter region may regulate the biofunction of the gene product by down-regulating its expression.…”

Section: Discussionmentioning

confidence: 99%

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

Psychiatry and Clinical Psychopharmacology

Yazıcı

Kurnaz

et al. 2018

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

“…Additionally, the XRCC4 protein is a key component of the XRCC4/LIG4 protein complex, which allows the ends of broken DNA strands to be joined, ensuring genome integrity. XRCC4 polymorphisms have been identified and subjected to epidemiological studies to assess their potential association with predisposition to various diseases, including cancer [ 50 , 51 , 52 ].…”

Section: Polymorphism Of Genes Encoding Dna Repair Proteins In Thyroi...mentioning

confidence: 99%

Polymorphisms of DNA Repair Genes in Thyroid Cancer

Gielecińska,

Kciuk,

Kołat

et al. 2024

IJMS

The incidence of thyroid cancer, one of the most common forms of endocrine cancer, is increasing rapidly worldwide in developed and developing countries. Various risk factors can increase susceptibility to thyroid cancer, but particular emphasis is put on the role of DNA repair genes, which have a significant impact on genome stability. Polymorphisms of these genes can increase the risk of developing thyroid cancer by affecting their function. In this article, we present a concise review on the most common polymorphisms of selected DNA repair genes that may influence the risk of thyroid cancer. We point out significant differences in the frequency of these polymorphisms between various populations and their potential relationship with susceptibility to the disease. A more complete understanding of these differences may lead to the development of effective prevention strategies and targeted therapies for thyroid cancer. Simultaneously, there is a need for further research on the role of polymorphisms of previously uninvestigated DNA repair genes in the context of thyroid cancer, which may contribute to filling the knowledge gaps on this subject.