Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population

Journal of Human Genetics

Volumn 57, Issue 11, 2012, Pages 738-746

  Zhou, Haixia ^a   Yang, Jing ^a   Li, Dengxue ^b   Xiao, Jun ^a   Wang, Bo ^a   Wang, Lan ^a   Ma, Chunlan ^a   Xu, Sicheng ^a   Ou, Xuemei ^a   Feng, Yulin ^a  

^a SICHUAN UNIVERSITY   (China)

^b Second Peoples Hospital of Hongya County   (China)

Author keywords

association; CHRNA3 5; chronic obstructive pulmonary disease; COPD related phenotypes; IREB2; replication case control study

Indexed keywords

ADULT; ARTICLE; CHINESE; CHRNA3 GENE; CHRNA5 GENE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE; GENE LOCUS; GENETIC ASSOCIATION; HUMAN; IRON RESPONSIVE ELEMENT BINDING PROTEIN 2 GENE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BODY MASS INDEX; CASE-CONTROL STUDIES; CHINA; FEMALE; FORCED EXPIRATORY VOLUME; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; IRON REGULATORY PROTEIN 2; LINKAGE DISEQUILIBRIUM; LUNG; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RECEPTORS, NICOTINIC; SMOKING;

EID: 84870276517     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.104     Document Type: Article

References (32)

1. Global Strategy for the Diagnosis, Management and Prevention of Chronic Obstructive Pulmonary Disease, Global Initiative for Chronic Obstructive Lung Disease (GOLD) (Updated 2011)) http://www.goldcopd.org/.
2. Rabe, K. F., Hurd, S., Anzueto, A., Barnes, P. J., Buist, S. A., Calverley, P. et al. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary. Am. J. Respir. Crit. Care Med. 176, 532-555 (2007). (Pubitemid 47403272)
3. Ganrot, P. O., Laurell, C. B. & Eriksson, S. Obstructive lung disease and trypsin inhibitors in alpha-1-antitrypsin deficiency. Scand. J. Clin. Lab. Invest. 19, 205-208 (1967).
4. de Serres, F. J., Blanco, I. & Fernandez-Bustillo, E. PI S and PI Z alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological data. Monaldi. Arch. Chest Dis. 67, 184-208 (2007). (Pubitemid 351188320)
5. DeMeo, D. L., Mariani, T., Bhattacharya, S., Srisuma, S., Lange, C., Litonjua, A. et al. Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene. Am. J. Hum. Genet. 85, 493-502 (2009).
6. Pillai, S. G., Ge, D., Zhu, G., Kong, X., Shianna, K. V., Need, A. C. et al. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet. 5, e1000421 (2009).
7. Pillai, S. G., Kong, X., Edwards, L. D., Cho, M. H., Anderson, W. H., Coxson, H. O. et al. Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 182, 1498-1505 (2010).
8. Lambrechts, D., Buysschaert, I., Zanen, P., Coolen, J., Lays, N., Cuppens, H. et al. The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema. Am. J. Respir. Crit. Care Med. 181, 486-493 (2010).
9. Berrettini, W., Yuan, X., Tozzi, F., Song, K., Francks, C., Chilcoat, H. et al. Alpha-5/ alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking. Mol. Psychiatry 13, 368-373 (2008). (Pubitemid 351399826)
10. Saccone, S. F., Hinrichs, A. L., Saccone, N. L., Chase, G. A., Konvicka, K., Madden, P. A. et al. Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol. Genet. 16, 36-49 (2007). (Pubitemid 46152543)
11. Qiu, W., Cho, M. H., Riley, J. H., Anderson, W. H., Singh, D., Bakke, P. et al. Genetics of sputum gene expression in chronic obstructive pulmonary disease. PLoS One 6, e24395 (2011).
12. Koren-Michowitz, M., Shimoni, A., Vivante, A., Trakhtenbrot, L., Rechavi, G., Amariglio, N. et al. A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD). Leuk. Res. 32, 421-427 (2008). (Pubitemid 351295916)
13. Barrett, J. C., Fry, B., Maller, J. & Daly, M. J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005). (Pubitemid 40202029)
14. Chappell, S. L., Daly, L., Lotya, J., Alsaegh, A., Guetta-Baranes, T., Roca, J. et al. The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study. BMC Med. Genet. 12, 24 (2011).
15. Hardin, M., Zielinski, J., Wan, E. S., Hersh, C. P., Castaldi, P. J., Schwinder, E. et al. CHRNA3/5, IREB2, and ADCY2 are Associated with Severe COPD in Poland. Am. J. Respir. Cell. Mol. Biol. 47, 203-208 (2012).
16. Guo, Y., Lin, H., Gao, K., Xu, H., Deng, X., Zhang, Q. et al. Genetic analysis of IREB2, FAM13A and XRCC5 variants in Chinese Han patients with chronic obstructive pulmonary disease. Biochem. Biophys. Res. Commun. 415, 284-287 (2011).
17. Stevens, V. L., Bierut, L. J., Talbot, J. T., Wang, J. C., Sun, J., Hinrichs, A. L. et al. Nicotinic receptor gene variants influence susceptibility to heavy smoking. Cancer Epidemiol. Biomarkers. Prev. 17, 3517-3525 (2008).
18. Saccone, N. L., Culverhouse, R. C., Schwantes-An, T. H., Cannon, D. S., Chen, X., Cichon, S. et al. Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet. 6, e1001053 (2010).
19. Thorgeirsson, T. E., Geller, F., Sulem, P., Rafnar, T., Wiste, A., Magnusson, K. P. et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 452, 638-642 (2008). (Pubitemid 351483366)
20. Saccone, N. L., Wang, J. C., Breslau, N., Johnson, E. O., Hatsukami, D., Saccone, S. F. et al. The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. Cancer Res. 69, 6848-6856 (2009).
21. Saccone, N. L., Saccone, S. F., Hinrichs, A. L., Stitzel, J. A., Duan, W., Pergadia, M. L. et al. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B, 453-466 (2009).
22. LaVaute, T., Smith, S., Cooperman, S., Iwai, K., Land, W., Meyron-Holtz, E. et al. Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice. Nat. Genet. 27, 209-214 (2001). (Pubitemid 32157451)
23. Rouault, T. A. The role of iron regulatory proteins in mammalian iron homeostasis and disease. Nat. Chem. Biol. 2, 406-414 (2006). (Pubitemid 44114917)
24. Hanson, E. S., Foot, L. M. & Leibold, E. A. Hypoxia post-translationally activates ironregulatory protein 2. J. Biol. Chem. 274, 5047-5052 (1999).
25. Leipuviene, R. & Theil, E. C. The family of iron responsive RNA structures regulated by changes in cellular iron and oxygen. Cell. Mol. Life Sci. 64, 2945-2955 (2007). (Pubitemid 351152243)
26. Weiss, R. B., Baker, T. B., Cannon, D. S., von Niederhausern, A., Dunn, D. M., Matsunami, N. et al. A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction. PLoS Genet. 4, e1000125 (2008).
27. Zhang, J., Summah, H., Zhu, Y. G. & Qu, J. M. Nicotinic acetylcholine receptor variants associated with susceptibility to chronic obstructive pulmonary disease: a metaanalysis. Respir. Res. 12, 158 (2011).
28. Liu, J. Z., Tozzi, F., Waterworth, D. M., Pillai, S. G., Muglia, P., Middleton, L. et al. Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat. Genet 42, 436-440 (2010).
29. Bierut, L. J. Nicotine dependence and genetic variation in the nicotinic receptors. Drug Alcohol Depend. 104, S64-S69 (2009).
30. Minna, J. D. Nicotine exposure and bronchial epithelial cell nicotinic acetylcholine receptor expression in the pathogenesis of lung cancer. J. Clin. Invest. 111, 31-33 (2003). (Pubitemid 36134845)
31. Greenbaum, L., Rigbi, A., Teltsh, O. & Lerer, B. Role of genetic variants in the CHRNA5-CHRNA3-CHRNB4 cluster in nicotine dependence risk: importance of geneenvironment interplay. Mol. Psychiatry 14, 828-830 (2009).
32. Dani, J. A. Overview of nicotinic receptors and their roles in the central nervous system. Biol. Psychiatry 49, 166-174 (2001). (Pubitemid 32178425)