The Cumulative Effect of Gene–Gene Interactions Between GSTM1, CHRNA3, CHRNA5 and SOD3 Gene Polymorphisms Combined with Smoking on COPD Risk

Ganbold, Chimedlkhamsuren; Jamiyansuren, Jambaldorj; Tumurbaatar, Ariuntungalag; Bayarmaa, Agarzandan; Enebish, Tseepil; Dashtseren, Ichinnorov; Jav, Sarantuya

doi:10.2147/copd.s320841

Cited by 7 publications

(5 citation statements)

References 22 publications

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“…It has been shown that the frequency of GSTP1 rs1138272 TC genotype in COPD patients was significantly higher than in normal people (28.57% vs. 14.45%), indicating that the GSTP1 rs1138272 polymorphism may be associated with COPD risk (Korytina et al, 2009). In contrast, Ganbold C et al (Ganbold et al, 2021) concluded that GSTP1 rs1138272 polymorphisms are not correlated with COPD risk (OR = 1.38, p = 0.381). It is reported that the T/C variant of GSTP1 on exon 6 replaces Ala114 with Val114 without changing enzymatic activities (Watson et al, 1998).…”

Section: Discussionmentioning

confidence: 98%

“…The tightly linked gene-gene interactions were observed between EPHX1 and GSTP1 gene polymorphisms, and alterations in the combined EPHX1 - GSTP1 detoxification activity may affect COPD development ( Ganbold et al, 2021 ). In view of the relationship between GSTP1 and EPHX1 , we simultaneously investigated the correlation between GSTP1 polymorphisms and COPD risk.…”

Section: Discussionmentioning

confidence: 99%

“…It has been shown that the A/G mutations on GSTP1 ’s exon-5, which replace Ile105 with Val105, result in changing the volume and hydrophobicity of amino acids and inhibiting the enzyme’s activities as well as thermal stability, thereby reducing its detoxification capacity ( Watson et al, 1998 ). It results in excess amounts of oxidants and free radicals in lung tissues and promotes airway tissue inflammation, which can cause bronchitis, emphysema, and COPD ( Ganbold et al, 2021 ). This is consistent with our finding that the GSTP1 rs1695 GG genotype increases COPD risk.…”

Section: Discussionmentioning

confidence: 99%

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EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis

et al. 2023

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Background: Chronic obstructive pulmonary disease (COPD) affects approximately 400 million people worldwide and is associated with high mortality and morbidity. The effect of EPHX1 and GSTP1 gene polymorphisms on COPD risk has not been fully characterized.Objective: To investigate the association of EPHX1 and GSTP1 gene polymorphisms with COPD risk.Methods: A systematic search was conducted on 9 databases to identify studies published in English and Chinese. The analysis was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses reporting guidelines (PRISMA). The pooled OR and 95% CI were calculated to evaluate the association of EPHX1 and GSTP1 gene polymorphisms with COPD risk. The I2 test, Q test, Egger’s test, and Begg’s test were conducted to determine the level of heterogeneity and publication bias of the included studies.Results: In total, 857 articles were retrieved, among which 59 met the inclusion criteria. The EPHX1 rs1051740 polymorphism (homozygote, heterozygote, dominant, recessives, and allele model) was significantly associated with high risk of COPD risk. Subgroup analysis revealed that the EPHX1 rs1051740 polymorphism was significantly associated with COPD risk among Asians (homozygote, heterozygote, dominant, and allele model) and Caucasians (homozygote, dominant, recessives, and allele model). The EPHX1 rs2234922 polymorphism (heterozygote, dominant, and allele model) was significantly associated with a low risk of COPD. Subgroup analysis showed that the EPHX1 rs2234922 polymorphism (heterozygote, dominant, and allele model) was significantly associated with COPD risk among Asians. The GSTP1 rs1695 polymorphism (homozygote and recessives model) was significantly associated with COPD risk. Subgroup analysis showed that the GSTP1 rs1695 polymorphism (homozygote and recessives model) was significantly associated with COPD risk among Caucasians. The GSTP1 rs1138272 polymorphism (heterozygote and dominant model) was significantly associated with COPD risk. Subgroup analysis suggested that the GSTP1 rs1138272 polymorphism (heterozygote, dominant, and allele model) was significantly associated with COPD risk among Caucasians.Conclusion: The C allele in EPHX1 rs1051740 among Asians and the CC genotype among Caucasians may be risk factors for COPD. However, the GA genotype in EPHX1 rs2234922 may be a protective factor against COPD in Asians. The GG genotype in GSTP1 rs1695 and the TC genotype in GSTP1 rs1138272 may be risk factors for COPD, especially among Caucasians.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis

et al. 2023

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“…Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation in the lungs and pulmonary tissue destruction, often stemming from persistent respiratory tract inflammation [ 1 ]. While tobacco smoking remains the primary risk factor, numerous other elements, such as exposure to irritants (biomass smoke, air pollution, and chemicals) and genetic factors (gene polymorphisms, epigenetic modifications, and transcription regulation), significantly contribute to COPD, resulting in diverse disease phenotypes [ 1 , 2 , 3 , 4 ]. Among the main genetic variations are polymorphisms in molecules, such as alpha-1 antitrypsin (AAT), tumor necrosis factor (TNF-α), matrix metalloproteinases (MMPs), or antioxidant enzyme genes [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Salivary Biomarkers and Spirometry for Diagnosing COPD in Non-Smokers and Smokers of Polish Origin

Rudzinska-Radecka,

Bańcerowski,

Marczyński

et al. 2024

Biomedicines

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Chronic obstructive pulmonary disease (COPD) is a prevalent respiratory condition with global implications. Accurate and timely diagnosis is critical; however, traditional diagnostic methods (based on spirometry) show limitations, prompting the search for predictive biomarkers and modern diagnostic techniques. This study explored the validation of COPD-related biomarkers (C-reactive protein, procalcitonin, neutrophil elastase, and alpha-1 antitrypsin) in saliva. A diverse cohort, including healthy non-smokers, healthy smokers, and COPD patients of Polish origin, underwent spirometry and marker analysis. The data correlated with clinical factors, revealing noteworthy relations. Firstly, salivary biomarker levels were compared with serum concentrations, demonstrating notable positive or negative correlations, depending on the factor. Further analysis within healthy individuals revealed associations between biomarker levels, spirometry, and clinical characteristics such as age, sex, and BMI. Next, COPD patients exhibited an enhanced concentration of biomarkers compared to healthy groups. Finally, the study introduced a breathing assessment survey, unveiling significant associations between self-perceived breathing and spirometric and tested parameters. Outcomes emphasized the relevance of subjective experiences in COPD research. In conclusion, this research underscored the potential of salivary biomarkers as diagnostic tools for COPD, offering a non-invasive and accessible alternative to traditional methods. The findings paved the way for improved modern diagnostic approaches.

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“…But only about 20 percent of heavy smokers had developed COPD [3]. It is mostly explained by an individual's genetic factors, which are related and contributes to detoxification, oxidative stress and other smoking-induced inflammation process [4]. Moreover, a number of studies have found the evidence for the association between smoking and matrix metalloproteinases (MMPs) in COPD [5][6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

SNP-SNP positive interaction between MMP2 and MMP12 increases the risk of COPD

Ganbold,

Jamiyansuren,

Munkhzorig

et al. 2024

PLoS ONE

Self Cite

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Determining SNP-SNP interaction of the disease has become important for further investigation of pathogenesis and experimental research. Although many studies have been published on the effect of MMPs gene polymorphisms on chronic obstructive pulmonary disease (COPD), there is a lack of information on SNP-SNP and SNP-environment interactions. This study aimed to investigate the interaction between the polymorphisms of MMP1, MMP2, MMP9 and MMP12 genes and its combined effect with smoking on the risk of developing COPD. Totally 181 COPD patients and 292 healthy individuals were involved. Blood samples from the participants were tested for genotyping and data were collected through questionnaires. Genotyping was performed with nested allele-specific polymerase chain reaction (AS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). SNP-SNP and SNP-environment interactions were investigated using multifactor dimensionality reduction and logistic regression analysis. The result showed that participants with high nicotine dependence and heavy smokers had a higher risk of COPD than non-smokers. Also, G/G genotype (cOR = 5.83; 95% CI, 1.19–28.4, p = 0.029) of MMP2 rs243864 and T/T genotype (cOR = 1.79; 95% CI, 1.16–2.76, p = 0.008) of MMP12 rs652438 independently contributes to the susceptibility of COPD. For SNP-SNP interaction, the positive interaction between rs243864 G/G genotype of MMP2 and rs652438 T/T genotype of MMP12 was found, and the combination of risk genotypes has a high risk of COPD (OR = 12.92; 95% CI, 1.46–114.4, p = 0.021). Moreover, the combination of T/T genotype of MMP12 rs652438 and smoking-related factors increases the risk of COPD approximately 4.5 to 6-fold. The results suggests that there is a combination of MMP2, MMP12, and smoking-related factors may increase the risk of developing COPD.

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The Cumulative Effect of Gene–Gene Interactions Between GSTM1, CHRNA3, CHRNA5 and SOD3 Gene Polymorphisms Combined with Smoking on COPD Risk

Cited by 7 publications

References 22 publications

EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis

EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis

Evaluation of Salivary Biomarkers and Spirometry for Diagnosing COPD in Non-Smokers and Smokers of Polish Origin

SNP-SNP positive interaction between MMP2 and MMP12 increases the risk of COPD

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