Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD

Liu, Shengming; Li, Bing; Zhou, Yun; Zhong, Nanshan; Ran, Pixin

doi:10.1111/j.1440-1843.2006.00958.x

Cited by 24 publications

(19 citation statements)

References 25 publications

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“…As with EPHX1, no association was found with disease and SNPs in genes encoding either subunit of the GCL enzyme. This confirms the only other reported study of GCL genetic variation in COPD, which investigated a single SNP in the GCLC gene (rs17883901; SNP 1c) in 322 subjects from the Han Chinese population, and failed to find evidence for an association with COPD [19]. The present study has extended these previous findings to include more SNPs throughout the GCLC gene, as well as considering variation in the gene for the GCLM subunit.…”

Section: Ephx1 and Gcl Variation In Copd S Chappell Et Alsupporting

confidence: 88%

“…Recently, variation in the catalytic subunit of the gene has been shown to be associated with lung disease severity in cystic fibrosis [18]. To date, genetic variation in this gene has only been reported in one small study of COPD in which no association was found [19]. Approval for the study was obtained from the appropriate committees at each recruitment centre.…”

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confidence: 99%

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Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD

Chappell¹,

Daly²,

Morgan³

et al. 2008

European Respiratory Journal

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The genetic factors that contribute to the development of chronic obstructive pulmonary disease (COPD) are poorly understood. Many candidate genes have been proposed, including enzymes that protect the lung against oxidative stress, such as microsomal epoxide hydrolase (EPHX1) and glutamate-cysteine ligase (GCL). To date, most reported findings have been for EPHX1, particularly in relation to functional variants associated with fast and slow metabolism of epoxide intermediates. The present study aimed to identify any association of variation in these genes with COPD susceptibility or severity.In total, 1,017 white COPD patients and 912 nondiseased age and sex matched smoking controls were genotyped for six single nucleotide polymorphisms (SNPs) in EPHX1 (including the fast and slow variants and associated haplotypes), and eight SNPs in the two genes encoding GCL. GCL is a rate-limiting enzyme in the synthesis of glutathione, a major contributor to antioxidant protection in the lung.No association of variation was found in EPHX1 or GCL with susceptibility to COPD or disease severity. This is the largest reported study to date and is well powered to detect associations that have been previously suggested. The current data indicate that these genetic variants are unlikely to be related to susceptibility or disease severity in white chronic obstructive pulmonary disease patients.

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Section: Ephx1 and Gcl Variation In Copd S Chappell Et Alsupporting

confidence: 88%

mentioning

confidence: 99%

Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD

Chappell¹,

Daly²,

Morgan³

et al. 2008

European Respiratory Journal

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“…A substitution in the promoter region of GCLM (the modulatory subunit of GCL), leading to decreased glutathione levels,11 was associated with a threefold increased risk of COPD in Chinese smokers 12. In the single study of a substitution in the catalytic subunit of GCL (GCLC) that results in decreased expression,13 an increased prevalence was observed in patients compared with healthy controls (odds ratio (OR) 1.83, 95% confidence interval (CI) 1.00 to 3.36)) 14…”

Section: Resultsmentioning

confidence: 99%

Genetic variation and gene expression in antioxidant related enzymes and risk of COPD: a systematic review

Bentley

Emrani

Cassano

2008

Thorax

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Background: Observational epidemiological studies of dietary antioxidant intake, serum antioxidant concentration and lung outcomes suggest that lower levels of antioxidant defences are associated with decreased lung function. Another approach to understanding the role of oxidant/antioxidant imbalance in the risk of chronic obstructive pulmonary disease (COPD) is to investigate the role of genetic variation in antioxidant enzymes, and indeed family based studies suggest a heritable component to lung disease. Many studies of the genes encoding antioxidant enzymes have considered COPD or COPD related outcomes, and a systematic review is needed to summarise the evidence to date, and to provide insights for further research. Methods: Genetic association studies of antioxidant enzymes and COPD/COPD related traits, and comparative gene expression studies with disease or smoking as the exposure were systematically identified and reviewed. Antioxidant enzymes considered included enzymes involved in glutathione metabolism, in the thioredoxin system, superoxide dismutases (SOD) and catalase. Results: A total of 29 genetic association and 15 comparative gene expression studies met the inclusion criteria. The strongest and most consistent effects were in the genes GCL, GSTM1, GSTP1 and SOD3. This review also highlights the lack of studies for genes of interest, particularly GSR, GGT and those related to TXN. There were limited opportunities to evaluate the contribution of a gene to disease risk through synthesis of results from different study designs, as the majority of studies considered either association of sequence variants with disease or effect of disease on gene expression. Conclusion: Network driven approaches that consider potential interaction between and among genes, smoke exposure and antioxidant intake are needed to fully characterise the role of oxidant/antioxidant balance in pathogenesis.

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“…In contrast, Liu et al found no association between OGG1 polymorphisms and COPD susceptibility. 41 CRAT is an enzyme playing an important role in metabolic processes. Carnitine decrease has been associated with insulin resistant states and aging.…”

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confidence: 99%

Gene promoter methylation is associated with lung function in the elderly: The normative aging study

et al. 2012

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Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD

Abstract: The genetic polymorphisms in CC16 38 A/G, OGG1 1245C/G and GCLC -129C/T are not associated with susceptibility to COPD in a southern Chinese population of Han nationality.

Cited by 24 publications

References 25 publications

Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD

Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD

Genetic variation and gene expression in antioxidant related enzymes and risk of COPD: a systematic review

Gene promoter methylation is associated with lung function in the elderly: The normative aging study

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