Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients
Carbonic anhydrase 9 (CA9) plays a vital role in lung cancer progression. The current study explored the effect of CA9 gene polymorphisms and the epidermal growth factor receptor (EGFR) mutations on the clinicopathological characters of lung adenocarcinoma. In this study, three loci of CA9 single nu...
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MDPI AG
2020-04-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/10/5/266 |
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| author | Ya-Yen Yu Hui-Ling Chiou Shih-Ming Tsao Chen-Cheng Huang Chih-Yun Lin Chia-Yi Lee Thomas Chang-Yao Tsao Shun-Fa Yang Yi-Wen Huang |
| author_facet | Ya-Yen Yu Hui-Ling Chiou Shih-Ming Tsao Chen-Cheng Huang Chih-Yun Lin Chia-Yi Lee Thomas Chang-Yao Tsao Shun-Fa Yang Yi-Wen Huang |
| author_sort | Ya-Yen Yu |
| collection | DOAJ |
| description | Carbonic anhydrase 9 (CA9) plays a vital role in lung cancer progression. The current study explored the effect of CA9 gene polymorphisms and the epidermal growth factor receptor (EGFR) mutations on the clinicopathological characters of lung adenocarcinoma. In this study, three loci of CA9 single nucleotide polymorphism (SNP) (rs2071676 A > G, rs3829078 A > G, and rs1048638 C > A) were genotyped using the TaqMan allelic discrimination method in 193 EGFR wild type individuals and 281 EGFR mutation subjects. After adjusting for age, gender, and cigarette smoking status in logistic regression, all three CA9 SNPs illustrated a non-significant difference for the distribution between the EGFR wild type group and EGFR mutation group. Nevertheless, a significantly lower rate of CA9 SNP rs2071676 AG (adjusted odds ratio (AOR): 0.40, 95% confidence interval (CI): 0.16–0.95, <i>p</i> = 0.039) and AG + GG (AOR: 0.43, 95% CI: 0.18–0.98, <i>p</i> = 0.046) were found in the male population with L858R EGFR mutation compared to men with EGFR wild type. In addition, the CA9 SNP rs2071676 AG + GG genotype were significantly correlated to the lower tumor stage of lung adenocarcinoma in the whole study population (<i>p</i> = 0.044) and EGFR wild type individuals (<i>p</i> = 0.033). For the male population, the presence of CA9 SNP rs2071676 AG + GG genotype was also correlated to a lower tumor stage (<i>p</i> = 0.037) and fewer lymph node invasion (<i>p</i> = 0.003) in those with EGFR wild type. In conclusion, the existence of CA9 SNP rs2071676 is associated with the rate of EGFR L858R mutation in males. Furthermore, the CA9 SNP rs2071676 is correlated to lower tumor stage and lower risk for developing lymph node metastasis in lung adenocarcinoma, mainly in the EGFR wild type. |
| first_indexed | 2024-03-10T20:09:43Z |
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| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T20:09:43Z |
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| spelling | doaj.art-a860982f0818486caa8505601e9ed2272023-11-19T23:02:05ZengMDPI AGDiagnostics2075-44182020-04-0110526610.3390/diagnostics10050266Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma PatientsYa-Yen Yu0Hui-Ling Chiou1Shih-Ming Tsao2Chen-Cheng Huang3Chih-Yun Lin4Chia-Yi Lee5Thomas Chang-Yao Tsao6Shun-Fa Yang7Yi-Wen Huang8Institute of Medicine, Chung Shan Medical University, Taichung 402, TaiwanSchool of Medical Laboratory and Biotechnology, Chung Shan Medical University, Taichung 402, TaiwanDivision of Chest, Department of Internal Medicine, Chung Shan Medical University Hospital, Taichung 402, TaiwanDivision of Chest Medicine, Department of Internal Medicine, Taichung Hospital, Ministry of Health and Welfare, Taichung 403, TaiwanDepartment of Health, Pulmonary and Critical Care Unit, Changhua Hospital, Changhua 500, TaiwanDepartment of Ophthalmology, Show Chwan Memorial Hospital, Changhua 500, TaiwanDivision of Chest, Department of Internal Medicine, Chung Shan Medical University Hospital, Taichung 402, TaiwanInstitute of Medicine, Chung Shan Medical University, Taichung 402, TaiwanInstitute of Medicine, Chung Shan Medical University, Taichung 402, TaiwanCarbonic anhydrase 9 (CA9) plays a vital role in lung cancer progression. The current study explored the effect of CA9 gene polymorphisms and the epidermal growth factor receptor (EGFR) mutations on the clinicopathological characters of lung adenocarcinoma. In this study, three loci of CA9 single nucleotide polymorphism (SNP) (rs2071676 A > G, rs3829078 A > G, and rs1048638 C > A) were genotyped using the TaqMan allelic discrimination method in 193 EGFR wild type individuals and 281 EGFR mutation subjects. After adjusting for age, gender, and cigarette smoking status in logistic regression, all three CA9 SNPs illustrated a non-significant difference for the distribution between the EGFR wild type group and EGFR mutation group. Nevertheless, a significantly lower rate of CA9 SNP rs2071676 AG (adjusted odds ratio (AOR): 0.40, 95% confidence interval (CI): 0.16–0.95, <i>p</i> = 0.039) and AG + GG (AOR: 0.43, 95% CI: 0.18–0.98, <i>p</i> = 0.046) were found in the male population with L858R EGFR mutation compared to men with EGFR wild type. In addition, the CA9 SNP rs2071676 AG + GG genotype were significantly correlated to the lower tumor stage of lung adenocarcinoma in the whole study population (<i>p</i> = 0.044) and EGFR wild type individuals (<i>p</i> = 0.033). For the male population, the presence of CA9 SNP rs2071676 AG + GG genotype was also correlated to a lower tumor stage (<i>p</i> = 0.037) and fewer lymph node invasion (<i>p</i> = 0.003) in those with EGFR wild type. In conclusion, the existence of CA9 SNP rs2071676 is associated with the rate of EGFR L858R mutation in males. Furthermore, the CA9 SNP rs2071676 is correlated to lower tumor stage and lower risk for developing lymph node metastasis in lung adenocarcinoma, mainly in the EGFR wild type.https://www.mdpi.com/2075-4418/10/5/266carbonic anhydrase 9epidermal growth factor receptorsingle nucleotide polymorphismlung adenocarcinomatumor stagelymph node |
| spellingShingle | Ya-Yen Yu Hui-Ling Chiou Shih-Ming Tsao Chen-Cheng Huang Chih-Yun Lin Chia-Yi Lee Thomas Chang-Yao Tsao Shun-Fa Yang Yi-Wen Huang Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients Diagnostics carbonic anhydrase 9 epidermal growth factor receptor single nucleotide polymorphism lung adenocarcinoma tumor stage lymph node |
| title | Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients |
| title_full | Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients |
| title_fullStr | Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients |
| title_full_unstemmed | Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients |
| title_short | Association of Carbonic Anhydrase 9 Polymorphism and the Epithelial Growth Factor Receptor Mutations in Lung Adenocarcinoma Patients |
| title_sort | association of carbonic anhydrase 9 polymorphism and the epithelial growth factor receptor mutations in lung adenocarcinoma patients |
| topic | carbonic anhydrase 9 epidermal growth factor receptor single nucleotide polymorphism lung adenocarcinoma tumor stage lymph node |
| url | https://www.mdpi.com/2075-4418/10/5/266 |
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