Genetic Predisposition to Chronic Obstructive Pulmonary Disease and/or Lung Cancer: Important Considerations When Evaluating Risk

El‐Zein, Randa; Young, Robert P.; Hopkins, Robert E.; Etzel, Carol J.

doi:10.1158/1940-6207.capr-12-0042

Cited by 41 publications

(45 citation statements)

References 68 publications

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“…They share a common environmental risk factor in CS exposure and a genetic predisposition (1), as indicated by the fact that 15-30% of smokers developed COPD or lung cancer (2). Fifty to 80% of lung cancer patients have pre-existing COPD, compared with a 15-20% prevalence of COPD in the general smoking population (3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of NRF2 gene correlated with decreased FEV1 in lung cancers of smokers

et al. 2013

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Abstract. The metabolism of xenobiotics plays a fundamental role in smoking-related lung function loss and the development of pulmonary disease. An NRF2-dependent response is a key protective mechanism against oxidative stress. In the present study, we evaluated the effect of single nucleotide polymorphisms in NRF2 genes on the level of forced expiratory volume in one second (FEV1) in lung cancers of smokers. We genotyped the status of NRF2 gene polymorphisms in 209 surgically treated lung cancer cases of smokers using TaqMan polymerase chain reaction (PCR). The results demonstrated the mean FEV1 in patients with

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Section: Introductionmentioning

confidence: 99%

Polymorphisms of NRF2 gene correlated with decreased FEV1 in lung cancers of smokers

et al. 2013

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“…Smoking is the leading cause of lung cancer (Thorgeirsson et al, 2008). Besides that, some studies have found that genetic factors play an important role in the pathology of LC (El-Zein et al, 2012). It has been demonstrated that caspases are closely related to genetic susceptibility to cancers.…”

Section: Discussionmentioning

confidence: 99%

A literature-based systematic HuGE review and meta-analysis show that CASP gene family polymorphisms are associated with risk of lung cancer

Zhang¹,

Yang²,

Jin³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The caspase (CASP) gene family is known to be involved in apoptosis, cytokine maturation, cell growth, and differentiation. A large number of single nucleotide polymorphisms (SNPs) in the CASP gene family have been increasingly recognized as important regulators in the development of lung cancer. However, this specific association is still controversial. In this Human Genome Epidemiology review and meta-analysis, we summarized the available evidence associating lung cancer with the CASP gene family. Seven studies, which included 1155 lung cancer cases and 1120 healthy controls, met the inclusion criteria and were included in our meta-analysis. In seven studies, 19 different SNPs have been studied in seven CASP genes, including CASP-1, -2, -5, -7, -8, -9, and -10. Meta-analysis results showed positive associations between heterozygote (A/G) of rs507879 in the CASP-5 gene, the T allele of rs12415607 in the CASP-7 gene, and the T allele and T carrier (C/T+T/T) of rs4645981 in the CASP-9 gene with lung cancer susceptibility [odds ratio (OR) = 1.83, 95% confidence interval (95%CI) = 1.07-3.12, P = 0.03; OR = 1.18, 95%CI = 1.02-1.37, P = 0.03; OR = 1.43, 95%CI = 1.12-1.81, P = 0.004; OR = 1.46, 95%CI = 1.10-1.93, P = 0.009; respectively]. However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (ins/del), and del carrier (ins/del + del/del) of rs3834129 in CASP-8 could be protective factors for lung cancer (OR = 0.17, 95%CI = 0.14-0.21, P = 0.0003; OR = 0.83, 95%CI = 0.72-0.97, P = 0.02; OR = 0.74, 95%CI = 0.64-0.85, P < 0.0001; OR = 0.81, 95%CI = 0.71-0.93, P = 0.002; respectively). In conclusion, based on this meta-analysis, we suggest that SNPs in CASP-5, -7, -8, and -9 are associated with susceptibility to lung cancer.©FUNPEC

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“…Due to increased habit of smoking these individuals run an increased risk of impaired epithelial barrier function and development of COPD due to increased smoke exposure. The CHRNA3/CHRNA5 locus has also been identified in genome-wide association studies in lung cancer and other diseases significantly influenced by cigarette smoking behavior and exposure [5,6,7].…”

Section: Geneticsmentioning

confidence: 99%

Genetics Association and Epigenetic Changes in COPD

Malhotra¹,

Vaarala²

2018

COPD - An Update in Pathogenesis and Clinical Management

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Genome-wide association studies (GWASs) have successfully identified susceptibility loci associated with COPD. The genes mapped on these loci, eg The FAM13A gene (family with sequence similarity 13, member A), provide a new approach to understand the COPD pathology. Furthermore, heavy smoking is reported to correlate with altered methylation and epigenetic changes of multiple genes in small airway cells. These changes have been shown to be associated with the severity of COPD. It is likely that smoking-induced changes in epigenetic control of gene expression result in genetically vulnerable individual's results in reduced tissue repair, tissue damage and persistent inflammation associated with COPD pathophysiology.

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Genetic Predisposition to Chronic Obstructive Pulmonary Disease and/or Lung Cancer: Important Considerations When Evaluating Risk

Cited by 41 publications

References 68 publications

Polymorphisms of NRF2 gene correlated with decreased FEV1 in lung cancers of smokers

Polymorphisms of NRF2 gene correlated with decreased FEV1 in lung cancers of smokers

A literature-based systematic HuGE review and meta-analysis show that CASP gene family polymorphisms are associated with risk of lung cancer

Genetics Association and Epigenetic Changes in COPD

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