Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study

References

• BrantlyML, PaulLD, MillerBH, FalkRT, WuM, CrystalRG. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis. 1988;138(2):327–336. doi:10.1164/ajrccm/138.2.3273264124
   PubMed Web of Science ®Google Scholar
• BerginDA, ReevesEP, MeleadyP, et al. Alpha-1 antitrypsin regulates human neutrophil chemotaxis induced by soluble immune complexes and IL-8. J Clin Invest. 2010;120(12):4236–4250. doi:10.1172/JCI4119621060150
   PubMed Web of Science ®Google Scholar
• American Thoracic Society Documents. American thoracic society/European respiratory society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818–900. doi:10.1164/rccm.168.7.818.14522813
   PubMed Web of Science ®Google Scholar
• The National Center for Biotechnology Information. National library of medicine. Available from: http://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=Graphics&list_uids=5265. Accessed 11, 2015.
   Google Scholar
• DeMeoDL, SilvermanEK. Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax. 2004;59(3):259–264. doi:10.1136/thx.2003.00650214985567
   PubMed Web of Science ®Google Scholar
• FlicekP, AmodeMR, BarrellD, et al. Ensembl 2014. Nucleic Acids Res. 2014;42(Database issue):D749–55. doi:10.1093/nar/gkt119624316576
   PubMed Web of Science ®Google Scholar
• GooptuB, EkeowaUI, LomasDA. Mechanisms of emphysema in alpha1-antitrypsin deficiency: molecular and cellular insights. Eur Respir J. 2009;34(2):475–488. doi:10.1183/09031936.0009650819648523
   PubMed Web of Science ®Google Scholar
• VidalR, BlancoI, CasasF, JardiR, MiravitllesM. Guidelines for the diagnosis and management of alpha-1 antitrypsin deficiency. Arch Bronconeumol. 2006;42(12):645–659. doi:10.1157/1309597417178069
   PubMed Web of Science ®Google Scholar
• de SerresFJ, LuisettiM, FerrarottiI, BlancoI, Fernandez-BustilloE. Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles. Monaldi Arch Chest Dis. 2005;63(3):133–141. doi:10.4081/monaldi.2005.63016312203
   PubMedGoogle Scholar
• de SerresFJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122(5):1818–1829. doi:10.1378/chest.122.5.181812426287
   PubMed Web of Science ®Google Scholar
• DahlM, HershCP, LyNP, BerkeyCS, SilvermanEK, NordestgaardBG. The protease inhibitor PI*S allele and COPD: a meta-analysis. Eur Respir J. 2005;26(1):67–76. doi:10.1183/09031936.05.0013570415994391
   PubMed Web of Science ®Google Scholar
• Pérez-RubioG, Ramírez-VenegasA, Noé DíazV, et al. Polymorphisms in HTR2A and drd4 predispose to smoking and smoking quantity. ZhangH ed. PLoS One. 2017;12(1):e0170019. doi:10.1371/journal.pone.017001928103253
   PubMed Web of Science ®Google Scholar
• Pérez-RubioG, Pérez-RodríguezME, Fernández-LópezJC, et al. SNPs in NRXN1 and CHRNA5 are associated to smoking and regulation of GABAergic and glutamatergic pathways. Pharmacogenomics. 2016;17:10. doi:10.2217/pgs-2016-0020
   Web of Science ®Google Scholar
• Ramírez-VenegasA, Velázquez-UncalM, Pérez-HernándezR, et al. Prevalence of COPD and respiratory symptoms associated with biomass smoke exposure in a suburban area. Int J Chron Obstruct Pulmon Dis. 2018;13:1727–1734. doi:10.2147/COPD.S15640929872290
   PubMed Web of Science ®Google Scholar
• Perez-PadillaR, ValdiviaG, MuinoA, et al. [Spirometric reference values in 5 large Latin American cities for subjects aged 40 years or over]. Arch Bronconeumol. 2006;42(7):317–325. Spanish. doi:10.1016/S1579-2129(06)60540-516945261
   PubMed Web of Science ®Google Scholar
• Juárez-MartínAI, González-SobrinoBZ, CamarenaA, Falfán-ValenciaR. HLA class II alleles in the Otomi population of the Mezquital Valley: a genetic approach to the history of interethnic migrations in the Mexican central plateau. Hum Biol. 2014;86(3):167–184. doi:10.13110/humanbiology.86.3.016725836745
   PubMed Web of Science ®Google Scholar
• Pérez-RubioG, Silva-ZolezziI, Fernandez-LopezJ, et al. Genetic variants in IL6R and ADAM19 are associated with COPD severity in a Mexican Mestizo population. COPD. 2016;13(5):610–615. doi:10.3109/15412555.2016.116101727078193
   PubMedGoogle Scholar
• The International HapMap Consortium. Browser release #28. Available from: http://hapmap.ncbi.nlm.nih.gov/index.html. Accessed 31, 2015.
   Google Scholar
• Silva-ZolezziI, Hidalgo-MirandaA, Estrada-GilJ, et al. Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico. Proc Natl Acad Sci U S A. 2009;106(21):8611–8616. doi:10.1073/pnas.090304510619433783
   PubMed Web of Science ®Google Scholar
• FalushD, StephensM, PritchardJK. Inference of population structure using multilocus genotype data: dominant markers and null alleles. Mol Ecol Notes. 2007;7(4):574–578. doi:10.1111/j.1471-8286.2007.01758.x18784791
   PubMed Web of Science ®Google Scholar
• Henschke, H. De Finetti Diagram. 2008. Available from: https://web.archive.org/web/20110719102655/https://finetti.meb.uni-bonn.de/download. Accessed March 27, 2018.
   Google Scholar
• DeanAG, ArnerTG, SunkiGG, et al. 2004 Epi Info, a database and statistics program for public health professionals. Available from: https://www.cdc.gov/epiinfo/index.html.
   Google Scholar
• Public Health Information Department of the General Public Health Administration of the Health Consulate. (Directorate of Galicia), health analysis and health information systems Unit of the Pan-American Health Organization (OPS-WHO). EPIDAT, program for epidemiological analysis of tabulated data. Version 3.1 (2006).
   Google Scholar
• PurcellS, NealeB, Todd-BrownK, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559–575. doi:10.1086/51979517701901
   PubMed Web of Science ®Google Scholar
• RStudio Team. RStudio: integrated development for R. rStudio; 2015 Available from: http://www.rstudio.com/.
   Google Scholar
• Pritchard Lab. Structure 2.3.4; 2012 Available from: http://pritchardlab.stanford.edu/structure_software/release_versions/v2.3.4/html/structure.html.
   Google Scholar
• Pérez-RubioG, Jiménez-ValverdeLO, Ramírez-VenegasA, et al. Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values. Arch Bronconeumol. 2015;51:2. doi:10.1016/j.arbres.2014.09.01026707419
   PubMed Web of Science ®Google Scholar
• Ponce-GallegosMA, Pérez-RubioG, García-CarmonaA, et al. Haplotype in SERPINA1 (AAT) is associated with reduced risk for COPD in a Mexican Mestizo population. Int J Mol Sci. 2019;21(1):195. doi:10.3390/ijms21010195
   PubMed Web of Science ®Google Scholar
• FregoneseL, StolkJ, FrantsRR, VeldhuisenB. Alpha-1 antitrypsin Null mutations and severity of emphysema. Respir Med. 2008;102(6):876–884. doi:10.1016/j.rmed.2008.01.00918353624
   PubMed Web of Science ®Google Scholar
• Perez-RubioG, Cordoba-LanusE, CupertinoP, Cartujano-BarreraF, CamposMA, Falfan-ValenciaR. Role of genetic susceptibility in nicotine addiction and chronic obstructive pulmonary disease. Rev Investig Clin. 2019;71(1):36–54. doi:10.24875/RIC.1800261730810540
   PubMedGoogle Scholar
• CampPG, Ramirez-VenegasA, SansoresRH, et al. COPD phenotypes in biomass smoke- versus tobacco smoke-exposed Mexican women. Eur Respir J. 2014;43(3):725–734. doi:10.1183/09031936.0020611224114962
   PubMed Web of Science ®Google Scholar
• HanMK. The other COPD. Eur Respir J. 2014;43(3):659–661. doi:10.1183/09031936.0016991324585858
   PubMed Web of Science ®Google Scholar
• RiveraRM, CosioMG, GhezzoH, SalazarM, Pérez-PadillaR. Comparison of lung morphology in COPD secondary to cigarette and biomass smoke. Int J Tuberc Lung Dis. 2008;12(8):972–977. 
   Google Scholar
• Del Angel-PabloAD, Juárez-MartínAI, Pérez-RubioG, et al. HLA allele and haplotype frequencies in three urban Mexican populations: genetic diversity for the approach of genomic medicine. Diagnostics. 2020;10(1):47. doi:10.3390/diagnostics10010047
   Web of Science ®Google Scholar
• PiitulainenE, TanashHA. the clinical profile of subjects included in the Swedish national register on individuals with severe alpha 1-Antitrypsin deficiency. COPD. 2015;12(Suppl 1):36–41. doi:10.3109/15412555.2015.102190925938290
   PubMedGoogle Scholar
• LaraB, MiravitllesM. Spanish registry of patients with alpha-1 Antitrypsin deficiency; comparison of the characteristics of PISZ and PIZZ individuals. COPD. 2015;12(Suppl 1):27–31. doi:10.3109/15412555.2015.102191225938288
   PubMedGoogle Scholar
• TanashHA, NilssonPM, NilssonJ-A, PiitulainenE. Survival in severe alpha-1-antitrypsin deficiency (PiZZ). Respir Res. 2010;11:44. doi:10.1186/1465-9921-11-4420420704
   PubMed Web of Science ®Google Scholar
• Encuesta Nacional de Adicciones 2011. Reporte de Tabaco; 2011 Available from: http://www.conadic.salud.gob.mx/pdfs/ENA_2011_TABACO.pdf.
   Google Scholar
• Ambrocio-OrtizE, Pérez-RubioG, Ramírez-VenegasA, et al. Effect of SNPs in HSP family genes, variation in the mRNA and intracellular Hsp levels in COPD secondary to tobacco smoking and biomass-burning smoke. Front Genet. 2020;10(1):11. doi:10.3389/fgene.2019.01307
   Web of Science ®Google Scholar
• La Población Indígena en México. Instituto nacional de estadística, geografía e informática; 2004 Available from: http://internet.contenidos.inegi.org.mx/contenidos/productos//prod_serv/contenidos/espanol/bvinegi/productos/historicos/2104/702825497583/702825497583_1.pdf. Accessed 71, 2016.
   Google Scholar
• Falfan-ValenciaR, Pérez-RubioG, Ambrocio-OrtizE, et al. Heterozygous genotype rs17580 AT (PiS) in SERPINA1 is associated to COPD secondary to biomass and tobacco smoke. Eur Respir J. 2017;50(suppl61). doi:10.1183/13993003.00711-2017
   Web of Science ®Google Scholar