Association of Tyrosyl‐DNA Phosphodiesterase 1 Polymorphism With Tourette Syndrome in Taiwanese Patients

Wu, Bor-Tsang; Lin, Wei-Yong; Chou, I-Ching; Liu, Hsin-Ping; Lee, Cheng-Chun; Tsai, Yuhsin; Wu, Wan-Chen; Tsai, Fuu‐Jen

doi:10.1002/jcla.21606

Cited by 4 publications

(2 citation statements)

References 43 publications

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“…Different data also are in favor of the fact that TOP1-induced DNA damage could contribute to neurological disorders. For example, it was shown that variants in the TDP1 gene may play a role in Tourette syndrome susceptibility [58]. There are several causes why TDP1 function seen as required in neuronal tissues [53,54].…”

Section: Discussionmentioning

confidence: 99%

Transcriptomic Analysis of CRISPR/Cas9-Mediated TDP1-Knockout HEK293A Cells

Dyrkheeva,

Zakharenko,

Malakhova

et al. 2023

Preprint

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Tyrosyl-DNA phosphodiesterase 1 (TDP1) is a human DNA repair protein. It is a member of the phospholipase D family based on the structure similarity. TDP1 is a key enzyme involved in repairing stalled topoisomerase 1 (TOP1)-DNA complexes. Previously we obtained with the CRISPR/Cas9 method HEK293A cells with the homozygous knockout of the Tdp1 gene and used knockout cells as a cellular model for studying the mechanisms of anticancer therapy. In this work we studied for the first time by transcriptomic analysis the effect of Tdp1 gene knockout on genes expression changes in human HEK293A cell line. We received original data that may indicate a role of TDP1 in other process besides repair of DNA-TOP1 complex. The differentially expressed genes (DEGs) analysis revealed that TDP1 could be involved in different processes such as cell adhesion and communication, spermatogenesis, mitochondrial function, neurodegeneration, cytokine response, and MAPK pathway signaling.

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Section: Discussionmentioning

confidence: 99%

Transcriptomic Analysis of CRISPR/Cas9-Mediated TDP1-Knockout HEK293A Cells

Dyrkheeva,

Zakharenko,

Malakhova

et al. 2023

Preprint

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“…Since TDP1 plays a role in resistance to DNA topoisomerase inhibitors, it is plausible that patients carrying a TDP1 variant may respond differently to treatment, thus having different survival outcomes. There are very few studies on TDP1 single nucleotide polymorphisms (SNP) (15–17) and, to the best of our knowledge, none have examined TDP1 SNPs in relation to SCLC survival. In this study, we investigated whether common TDP1 SNPs are associated with overall survival among SCLC patients in a multicenter study from the International Lung Cancer Consortium (ILCCO, http://ilcco.iarc.fr).…”

Section: Introductionmentioning

confidence: 99%

Common TDP1 Polymorphisms in Relation to Survival among Small Cell Lung Cancer Patients: A Multicenter Study from the International Lung Cancer Consortium

Lohavanichbutr

Sakoda

Amos

et al. 2017

Clinical Cancer Research

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Background DNA topoisomerase inhibitors are commonly used for treating small cell lung cancer (SCLC). Tyrosyl-DNA phosphodiesterase (TDP1) repairs DNA damage caused by this class of drugs and may therefore influence treatment outcome. In this study, we investigated whether common TDP1 single nucleotide polymorphisms (SNPs) are associated with overall survival among SCLC patients. Methods Two TDP1 SNPs (rs942190 and rs2401863) were analyzed in 890 patients from 10 studies in the International Lung Cancer Consortium (ILCCO). The Kaplan-Meier method and Cox regression analyses were used to evaluate genotype associations with overall mortality at 36 months post-diagnosis, adjusting for age, sex, race, and tumor stage. Results Patients homozygous for the minor allele (GG) of rs942190 had poorer survival compared to those carrying AA alleles, with a hazard ratio (HR) of 1.36 (95% confidence interval (CI): 1.08–1.72, p-value=0.01), but no association with survival was observed for patients carrying the AG genotype (HR=1.04, 95% CI:0.84–1.29, p-value=0.72). For rs2401863, patients homozygous for the minor allele (CC) tended to have better survival than patients carrying AA alleles (HR=0.79, 95% CI: 0.61–1.02, p-value=0.07). Results from the Genotype Tissue Expression (GTEx) Project, the Encyclopedia of DNA Elements (ENCODE), and the ePOSSUM web application support the potential function of rs942190. Conclusions We found the rs942190 GG genotype to be associated with relatively poor survival among SCLC patients. Further investigation is needed to confirm the result and to determine whether this genotype may be a predictive marker for treatment efficacy of DNA topoisomerase inhibitors.

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Transcriptomic analysis of HEK293A cells with a CRISPR/Cas9-mediated TDP1 knockout

Dyrkheeva,

Zakharenko,

Malakhova

et al. 2024

Biochimica et Biophysica Acta (BBA) - General Subjects

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Association of Tyrosyl‐DNA Phosphodiesterase 1 Polymorphism With Tourette Syndrome in Taiwanese Patients

Abstract: The findings of this study suggested that variants in the TDP1 gene might play a role in TS susceptibility.

Cited by 4 publications

References 43 publications

Transcriptomic Analysis of CRISPR/Cas9-Mediated TDP1-Knockout HEK293A Cells

Transcriptomic Analysis of CRISPR/Cas9-Mediated TDP1-Knockout HEK293A Cells

Common TDP1 Polymorphisms in Relation to Survival among Small Cell Lung Cancer Patients: A Multicenter Study from the International Lung Cancer Consortium

Transcriptomic analysis of HEK293A cells with a CRISPR/Cas9-mediated TDP1 knockout

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