Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease
: Autophagy is important in cellular homeostasis and control of inflammatory immune response. Increased autophagy has recently been associated with increased cell death and chronic obstructive pulmonary disease (COPD) pathogenesis. Two autophagy regulator genes have been identified: Egr-1 (early gro...
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| Format: | Article |
| Language: | English |
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Elsevier
2015-08-01
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| Series: | Journal of the Formosan Medical Association |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664613002623 |
| _version_ | 1818563674658308096 |
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| author | Chiung-Zuei Chen Chih-Ying Ou Ru-Hsueh Wang Cheng-Hung Lee Chien-Chung Lin Han-Yu Chang Tzuen-Ren Hsiue |
| author_facet | Chiung-Zuei Chen Chih-Ying Ou Ru-Hsueh Wang Cheng-Hung Lee Chien-Chung Lin Han-Yu Chang Tzuen-Ren Hsiue |
| author_sort | Chiung-Zuei Chen |
| collection | DOAJ |
| description | : Autophagy is important in cellular homeostasis and control of inflammatory immune response. Increased autophagy has recently been associated with increased cell death and chronic obstructive pulmonary disease (COPD) pathogenesis. Two autophagy regulator genes have been identified: Egr-1 (early growth response), associated with different phenotype expressions in asthma; and, Atg16L1 (autophagy related 16-like 1), a candidate gene responsible for susceptibility to chronic inflammatory diseases. We will explore the role of the Egr-1 and Atg16L1 gene polymorphisms in COPD.
Methods: The genotypes of 151 male smoking patients with COPD and 100 male smoking controls were evaluated by polymerase chain reaction followed by restriction fragment length polymorphism analysis of the Egr-1 (–4071 A → G) rs7729723 and Atg16L-1 (T300A) rs2241880 variants.
Results: The G allele of the Egr-1 gene polymorphism was associated with an increased risk of developing COPD [odds ratio (OR), 2.05; 95% confidence interval (CI), 1.15–3.72], and participants with the G allele polymorphism (GG and GA genotypes) had a 2.56-fold higher risk (OR, 2.56; 95% CI, 1.31–5.16) of having COPD than those homozygous for the A allele [35.8% (54/151) vs. 24.0% (24/100); p = 0.007]. Participants with the A allele of the Atg16L1 gene polymorphism (AA and AG genotypes) had a 3.34-fold higher risk (OR, 3.34; 95% CI, 1.32–8.97) of having COPD than those homozygous for the G allele [93.4% (141/151) vs. 81.0% (81/100); p = 0.013].
Conclusion: The Egr-1 and Atg16L1 genes' polymorphisms were significant risk factors for susceptibility to COPD. These results demonstrate that autophagy regulator genetic mutations are associated with COPD in male smokers. |
| first_indexed | 2024-12-14T01:19:29Z |
| format | Article |
| id | doaj.art-9a5075772f1b484782bba275def0334b |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-12-14T01:19:29Z |
| publishDate | 2015-08-01 |
| publisher | Elsevier |
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| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-9a5075772f1b484782bba275def0334b2022-12-21T23:22:28ZengElsevierJournal of the Formosan Medical Association0929-66462015-08-01114875075510.1016/j.jfma.2013.07.015Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary diseaseChiung-Zuei Chen0Chih-Ying Ou1Ru-Hsueh Wang2Cheng-Hung Lee3Chien-Chung Lin4Han-Yu Chang5Tzuen-Ren Hsiue6Division of Chest Medicine, Department of Internal Medicine, National Cheng Kung University Hospital, Medical College, National Cheng Kung University, Tainan, TaiwanDivision of Chest Medicine, Department of Internal Medicine, National Cheng Kung University Hospital, Medical College, National Cheng Kung University, Tainan, TaiwanDepartment of Family Medicine, National Cheng Kung University Hospital, Medical College, National Cheng Kung University, Tainan, TaiwanDivision of Chest Medicine, Department of Internal Medicine, National Cheng Kung University Hospital, Medical College, National Cheng Kung University, Tainan, TaiwanDivision of Chest Medicine, Department of Internal Medicine, National Cheng Kung University Hospital, Medical College, National Cheng Kung University, Tainan, TaiwanDivision of Chest Medicine, Department of Internal Medicine, National Cheng Kung University Hospital, Medical College, National Cheng Kung University, Tainan, TaiwanDivision of Chest Medicine, Department of Internal Medicine, National Cheng Kung University Hospital, Medical College, National Cheng Kung University, Tainan, Taiwan: Autophagy is important in cellular homeostasis and control of inflammatory immune response. Increased autophagy has recently been associated with increased cell death and chronic obstructive pulmonary disease (COPD) pathogenesis. Two autophagy regulator genes have been identified: Egr-1 (early growth response), associated with different phenotype expressions in asthma; and, Atg16L1 (autophagy related 16-like 1), a candidate gene responsible for susceptibility to chronic inflammatory diseases. We will explore the role of the Egr-1 and Atg16L1 gene polymorphisms in COPD. Methods: The genotypes of 151 male smoking patients with COPD and 100 male smoking controls were evaluated by polymerase chain reaction followed by restriction fragment length polymorphism analysis of the Egr-1 (–4071 A → G) rs7729723 and Atg16L-1 (T300A) rs2241880 variants. Results: The G allele of the Egr-1 gene polymorphism was associated with an increased risk of developing COPD [odds ratio (OR), 2.05; 95% confidence interval (CI), 1.15–3.72], and participants with the G allele polymorphism (GG and GA genotypes) had a 2.56-fold higher risk (OR, 2.56; 95% CI, 1.31–5.16) of having COPD than those homozygous for the A allele [35.8% (54/151) vs. 24.0% (24/100); p = 0.007]. Participants with the A allele of the Atg16L1 gene polymorphism (AA and AG genotypes) had a 3.34-fold higher risk (OR, 3.34; 95% CI, 1.32–8.97) of having COPD than those homozygous for the G allele [93.4% (141/151) vs. 81.0% (81/100); p = 0.013]. Conclusion: The Egr-1 and Atg16L1 genes' polymorphisms were significant risk factors for susceptibility to COPD. These results demonstrate that autophagy regulator genetic mutations are associated with COPD in male smokers.http://www.sciencedirect.com/science/article/pii/S0929664613002623autophagychronic obstructive pulmonary diseasepolymorphism |
| spellingShingle | Chiung-Zuei Chen Chih-Ying Ou Ru-Hsueh Wang Cheng-Hung Lee Chien-Chung Lin Han-Yu Chang Tzuen-Ren Hsiue Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease Journal of the Formosan Medical Association autophagy chronic obstructive pulmonary disease polymorphism |
| title | Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease |
| title_full | Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease |
| title_fullStr | Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease |
| title_full_unstemmed | Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease |
| title_short | Association of Egr-1 and autophagy-related gene polymorphism in men with chronic obstructive pulmonary disease |
| title_sort | association of egr 1 and autophagy related gene polymorphism in men with chronic obstructive pulmonary disease |
| topic | autophagy chronic obstructive pulmonary disease polymorphism |
| url | http://www.sciencedirect.com/science/article/pii/S0929664613002623 |
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