Interactions between single nucleotide polymorphism of &lt;em&gt;SERPINA1&lt;/em&gt; gene and smoking in association with COPD: a case&amp;ndash;control study

Deng, Xiaowei; Yuan, Cunhua; Chang, Dan

doi:10.2147/copd.s116313

Cited by 11 publications

(11 citation statements)

References 19 publications

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“…For example, Quint and colleagues [18] reported that SERPINA1 11478G→A variant is not associated with a major risk for developing COPD in a UK population. On the other hand, Deng et al [19] described an association with a higher risk for COPD with rs8004738 (G/A) in a Chinese population. Our research group previously reported that PiZ (rs28929474, G/A) and PiS (rs17580, A/T) were not associated with COPD in a Mexican mestizo population.…”

Section: Discussionmentioning

confidence: 99%

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Ponce-Gallegos

Pérez-Rubio

García-Carmona

et al. 2019

IJMS

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Protease inhibitor S (PiS) and protease inhibitor Z (PiZ) variants in the SERPINA1 gene are the main genetics factors associated with COPD; however, investigations about other polymorphisms are scanty. The aim of this study was to evaluate two missense single nucleotide polymorphisms (SNPs) (rs709932 and rs1303) in the SERPINA1 gene in Mexican mestizo patients with chronic obstructive pulmonary disease (COPD) related to tobacco smoking and biomass-burning exposure. 1700 subjects were genotyped and divided into four groups: COPD related to tobacco smoking (COPD-S, n = 297), COPD related to biomass-burning exposure (COPD-BB, n = 178), smokers without COPD (SWOC, n = 674), and biomass-burning exposed subjects (BBES, n = 551) by real-time PCR. Moreover, the patients’ groups were divided according to their exacerbations’ frequency. We carried out a haplotype analysis. We did not find differences in allele and genotype frequencies between groups in unadjusted and adjusted analyses, neither with these SNPs and lung function decline. Exacerbations’ frequency is not associated with these SNPs. However, we found a haplotype with major alleles (CT) associated with reduced risk for COPD (p < 0.05). Our analysis reveals that SNPs different from PiS and PiZ (rs709932 and rs1303) in the SERPINA1 gene are not associated with COPD and lung function decline in a Mexican mestizo population. However, a haplotype shaped by both major alleles (CT haplotype) is associated with reduced risk for COPD.

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Section: Discussionmentioning

confidence: 99%

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Ponce-Gallegos

Pérez-Rubio

García-Carmona

et al. 2019

IJMS

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“… 19 Deng X et al have showed that SERPINA1 gene was correlated with COPD in Han Chinese after excluding confounding factor, which is similar to the Chappell. 20 However, it is well known that racial differences exist between genetic risk and disease phenotype.…”

Section: Copd and The Genetic Polymorphism Of The Hydrolytic–antihydrmentioning

confidence: 99%

Genetic polymorphism and chronic obstructive pulmonary disease

Yuan¹,

Chang

Gao

et al. 2017

COPD

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Chronic obstructive pulmonary disease (COPD) is a common chronic disease, and its morbidity and mortality are increasing. There are many studies that have tried to explain the pathogenesis of COPD from genetic susceptibility, to identify the susceptibility of COPD factors, which play a role in early prevention, early detection and the early treatment. However, it is well known that COPD is an inflammatory disease characterized by incomplete reversible airflow limitation in which genes interact with the environment. In recent years, many studies have proved gene polymorphisms and COPD correlation. However, there is less research on the relationship between COPD and genome-wide association study (GWAS), epigenetics and apoptosis. In this paper, we summarized the correlation between gene level and COPD from the following four aspects: the GWAS, the gene polymorphism, the epigenetics and the apoptosis, and the relationship between COPD and gene is summarized comprehensively.

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“…Few studies defined the relevance of smoking with genetic factors. [4][5][6][7] Researchers found additive interactions between rs8004738 SNP of serine protein inhibitor A1 (SERPINA1) gene and smoking for COPD in the Chinese population. 6 As for the polygenic disease, it is clear that one gene cannot be responsible for the COPD progress.…”

Section: Introductionmentioning

confidence: 99%

“…[4][5][6][7] Researchers found additive interactions between rs8004738 SNP of serine protein inhibitor A1 (SERPINA1) gene and smoking for COPD in the Chinese population. 6 As for the polygenic disease, it is clear that one gene cannot be responsible for the COPD progress. Two-and three-way gene-gene interaction models for lung function-related quantitative traits use multifactor dimensionality reduction (MDR) analysis.…”

Section: Introductionmentioning

confidence: 99%

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

Ganbold¹,

Jamiyansuren²,

Tumurbaatar³

et al. 2021

COPD

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Background: Chronic obstructive pulmonary disease (COPD) is a multifactorial disorder which is affected by external and internal risk factors. People with no external risk factors may be significantly affected and develop pulmonary disease. The study aimed to define gene-gene and gene-environmental effects on COPD. Methods: A case control study involved 181 COPD patients and 292 healthy individuals, with peripheral blood sampling and adequate questionnaires. Genotyping was done with various types of PCR design for GSTM1 (null del), GSTT1 (null del), EPHX1 (rs2234922 and rs1051740), GSTP1 (rs1695 and rs1138272), CHRNA3 (rs1051730 and rs12914385), CHRNA5 (rs16969968 and rs17486278), and SOD3 (rs1799895 and rs699473) gene polymorphisms. Gene-gene and gene-environmental interactions were investigated using multidimensional regression analysis. Results: Frequency of risk alleles of rs1051730 (p = 0.001), rs16969968 (p <0.001), and rs1799895 (p <0.001) polymorphisms were significant in univariate analysis. For gene-gene interaction, GSTM1 null, rs1051730, rs16969968, and rs1799895 polymorphisms independently contributed to risk of COPD and any combinations of the risk genotypes have a higher risk of disease. A cumulative effect of the four risk polymorphisms increased the risk of COPD for the smoking index (cOR = 13.6, p <0.001), cigarettes per day (cOR = 32.08, p <0.01), nicotine dependence (cOR = 12.0, p <0.01), and smoking status (cOR = 17.02, p <0.01) for gene-environmental interaction. Conclusion: Several pivotal genes showed distinct effects for COPD, and some synergistic effects affected the disease progression. The development of COPD was synergistically increased with gene-gene and gene-environmental risk factors.

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Interactions between single nucleotide polymorphism of <em>SERPINA1</em> gene and smoking in association with COPD: a case–control study

Cited by 11 publications

References 19 publications

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Genetic polymorphism and chronic obstructive pulmonary disease

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

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