The influence of polymorphic GSTM1 gene on the increased susceptibility of non-viral hepatic cirrhosis: evidence from observational studies

Gu, Yun; Zhao, Jing; Li, Ao; Ma, Jianning; Bao, Kena; Liu, Min; Huang, Weiping

doi:10.1186/s40001-018-0331-z

Cited by 6 publications

(3 citation statements)

References 33 publications

(30 reference statements)

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“…The CNV of ZDHHC11 and ZDHHC11B are associated with hepatoblastoma 53 and primary open-angle glaucoma 54 . The GSTM1 (glutathione S-transferase mu) locus is also a polymorphic locus associated with cancers, metabolism, and hepatic cirrhosis 55 . Thus, our study provides a fundamental resource for functional assessments to examine functional differentiation between/among polymorphic loci in humans.…”

Section: Discussionmentioning

confidence: 99%

A refined characterization of large-scale genomic differences in the first complete human genome

Yang

Wang

Zou

et al. 2022

Preprint

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The first telomere-to-telomere (T2T) human genome assembly (T2T-CHM13) release was a milestone in human genomics. The T2T-CHM13 genome assembly extends our understanding of telomeres, centromeres, segmental duplication, and other complex regions. The current human genome reference (GRCh38) has been widely used in various human genomic studies. However, the large-scale genomic differences between these two important genome assemblies are not characterized in detail yet. Here, we identify 590 discrepant regions (~226 Mbp) in total. In addition to the previously reported 'non-syntenic' regions, we identify 67 additional large-scale discrepant regions and precisely categorize them into four structural types with a newly developed website tool (SynPlotter). The discrepant regions (~20.4 Mbp) excluding telomeric and centromeric regions are highly structurally polymorphic in humans, where copy number variation are likely associated with various human disease and disease susceptibility, such as immune and neurodevelopmental disorders. The analyses of a newly identified discrepant region-the KLRC gene cluster-shows that the depletion of KLRC2 by a single deletion event is associated with natural killer cell differentiation in ~20% of humans. Meanwhile, the rapid amino acid replacements within KLRC3 is consistent with the action of natural selection during primate evolution. Our study furthers our understanding of the large-scale structural variation differences between these two crucial human reference genomes and future interpretation of studies of human genetic variation.

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Section: Discussionmentioning

confidence: 99%

A refined characterization of large-scale genomic differences in the first complete human genome

Yang

Wang

Zou

et al. 2022

Preprint

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“…Previous studies have demonstrated that single nucleotide polymorphisms (SNPs) play a significant role in the activity of drug-metabolizing enzymes and DNA repair enzymes in the body [17]. These SNPs not only affect the metabolism of chemotherapy drugs but also impact individual drug response [18].…”

Section: Introductionmentioning

confidence: 99%

Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis

Yang,

Liu,

Zhu

et al. 2023

Horm Metab Res

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Thyroid cancer is the most common malignant tumor of the endocrine system, and its incidence is increasing worldwide each year. This study aimed to explore the association between XRCC1, GSTM1, and GSTT1 polymorphisms in the model of thyroid cancer. The experiment was conducted by searching PubMed, Embase, and Web of Science, with the last search performed in March 2022. A total of 12 studies were included in this meta-analysis, with sample sizes ranging from 211 to 1124. The proportion of XRCC1 polymorphisms (rs25489, GG) in thyroid cancer was slightly lower than that of the normal control group, but the difference was not statistically significant (Mean difference=1.13, 95% CI: 0.99–1.28, p=0.08). The proportion of XRCC1 polymorphisms (rs25489, GA) in thyroid cancer was significantly lower than that of the normal control group (Mean difference=1.32, 95% CI: 1.16–1.52, p<0.00001). The proportion of XRCC1 polymorphisms (rs25489, AA) in thyroid cancer was slightly lower than that of the normal control group, but again, the difference was not statistically significant (Mean difference=0.78, 95% CI: 0.61–1.01, p=0.06). Similarly, the proportion of XRCC1 polymorphisms (rs25487, GG) and (rs25487, GA) in thyroid cancer was lower than that of the normal control group, but the differences were not statistically significant (p=0.22 and p=0.49, respectively). In conclusion, this study found that the proportion of XRCC1 polymorphisms (rs25489, AA) in thyroid cancer was lower than that of the normal control group.

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“…17 In humans, it is reported that the GSTM1 null genotype is related to a group of diseases. [18][19][20][21] Various studies have been performed to explore the association between GSTM1 gene polymorphisms and CAD. [22][23][24][25][26][27][28][29] Of these, some studies reported that the GSTM1 null genotype was related to CAD in a smoking population, 24,26 while several reports showed no significant association between the two factors.…”

Section: Introductionmentioning

confidence: 99%

An updated analysis on the association of GSTM1 polymorphism and smoking exposure with the increased risk of coronary heart disease

Liu

et al. 2022

J Int Med Res

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Objective To undertake a meta-analysis to investigate if there is an association between the glutathione S-transferase mu 1 ( GSTM1) gene polymorphism, coronary artery disease (CAD) susceptibility and smoking. Methods Electronic databases, including PubMed®, Web of Science and Embase®, were searched for relevant case–control studies. Data were extracted and the odds ratio (OR) was calculated and appropriate statistical methods were used for the meta-analysis. Results The analysis included eight studies with a total of 1880 cases with CAD and 1758 control subjects. The results of this meta-analysis demonstrated that there is no association between the GSTM1 null and CAD (OR 1.24, 95% confidence interval [CI] 1.00, 1.55). An increased risk of CAD was observed in the smoking population with the GSTM1 null genotype (OR 1.48, 95% CI 1.02, 2.15). Subgroup analyses of geographical region, genotyping method and publication language category demonstrated potential relationships among gene polymorphism, smoking and CAD. Conclusions Based on the current literature, the GSTM1 null genotype was associated to CAD in the smoking population. The interaction between smoking and GSTM1 polymorphism may contribute to the susceptibility of CAD.

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The influence of polymorphic GSTM1 gene on the increased susceptibility of non-viral hepatic cirrhosis: evidence from observational studies

Cited by 6 publications

References 33 publications

A refined characterization of large-scale genomic differences in the first complete human genome

A refined characterization of large-scale genomic differences in the first complete human genome

Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis

An updated analysis on the association of GSTM1 polymorphism and smoking exposure with the increased risk of coronary heart disease

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