121
Views
3
CrossRef citations to date
0
Altmetric
Articles

Association between 17q21 variants and asthma predisposition in Pashtun population from Pakistan

, PhD, , PhD, , PhD, , PhD, , PhD, , MD, FRCS Ed & , MD, PhD show all
Pages 63-75 | Received 18 Jul 2021, Accepted 30 Dec 2021, Published online: 26 Jan 2022

References

  • Global Initiative for Asthma. Global Strategy for Asthma Management and Prevention. Fontana, CA. 2020. Available from: www.ginasthma.org
  • Holgate ST. A brief history of asthma and its mechanisms to modern concepts of disease pathogenesis. Allergy Asthma Immunol Res 2010;2(3):165–171. doi:10.4168/aair.2010.2.3.165.
  • Afzal S, Ramzan K, Waqar AB. Alternative approaches for the treatment of Asthma and COPD: focus on cell-based therapies, epigenetics, and gene silencing approaches. Adv Life Sci 2020;7(3):9.
  • Dharmage SC, Perret JL, Custovic A. Epidemiology of asthma in children and adults. Front Pediatr 2019;7:246–246. doi:10.3389/fped.2019.00246.
  • Serebrisky D, Wiznia A. Pediatric asthma: a global epidemic. Ann Glob Health 2019;85(1):6. doi:10.5334/aogh.2416.
  • Ghani MU, Sabar MF, Bano I, Shahid M, Akram M, Khalid I, Maryam A, Khan MU. Evaluation of ADAM33 gene’s single nucleotide polymorphism variants against asthma and the unique pattern of inheritance in Northern and Central Punjab, Pakistan. SMJ. 2019;40(8):774–780. doi:10.15537/smj.2019.8.24411.
  • Morales E, Duffy D. Genetics and gene-environment interactions in childhood and adult onset asthma. Front Pediatr 2019;7:499. doi:10.3389/fped.2019.00499.
  • Michel S, Busato F, Genuneit J, Pekkanen J, Dalphin JC, Riedler J, Mazaleyrat N, Weber J, Karvonen AM, Hirvonen MR, et al. Farm exposure and time trends in early childhood may influence DNA methylation in genes related to asthma and allergy. Allergy 2013;68(3):355–364. doi:10.1111/all.12097.
  • Loewen K, Monchka B, Mahmud SM, Jong G’, Azad MB. Prenatal antibiotic exposure and childhood asthma: a population-based study. Eur Respir J 2018;52(1):1702070. doi:10.1183/13993003.02070-2017.
  • Wang B, Chen H, Chan YL, Wang G, Oliver BG. Why do intrauterine exposure to air pollution and cigarette smoke increase the risk of asthma? Front Cell Dev Biol 2020;8:38. doi:10.3389/fcell.2020.00038.
  • Hernandez-Pacheco N, Pino-Yanes M, Flores C. Genomic predictors of asthma phenotypes and treatment response. Front Pediatr 2019;7:6. doi:10.3389/fped.2019.00006.
  • Custovic A, Marinho S, Simpson A. Gene-environment interactions in the development of asthma and atopy. Expert Rev Respir Med 2012;6(3):301–308. doi:10.1586/ers.12.24.
  • Louis R, Schleich F, Corhay JL, Louis E. Asthma: a complex disease determined by genetic and environmental factors. Rev Med Liege 2012;67(5–6):286–291.
  • Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007;448(7152):470–473. doi:10.1038/nature06014.
  • Miller M, Broide DH. Why is ORMDL3 on chromosome 17q21 highly linked to asthma? Am J Respir Crit Care Med 2019;199(4):404–406. doi:10.1164/rccm.201810-1941ED.
  • Saba N, Yusuf O, Rehman S, Munir S, Noor A, Saqlain M, Mansoor A, Raja GK. Single nucleotide polymorphisms in asthma candidate genes TBXA2R, ADAM33 FCER1B and ORMDL3 in Pakistani asthmatics a case control study. Asthma Res Pract 2018;4:4. doi:10.1186/s40733-018-0039-4.
  • Sabar MF, Shahid M, Bano I, Ghani MU, Akram M, Iqbal F, Kousar S, Iqbal Z, Altaf S, Husnain T. rs12603332 is associated with male asthma patients specifically in urban areas of Lahore, Pakistan. J Asthma 2017;54(9):887–892. doi:10.1080/02770903.2016.1277539.
  • Zeinaly I, Vossoughi N, Elieh Ali Komi D, Kazemi T, Babaloo Z, Razavi A, Sajay-Asbaghi M, Sadeghi-Shabestari M. Investigating the association of orosomucoid 1-like 3 (ORMDL3) gene polymorphism (rs12603332) with susceptibility to allergic asthma in Iranian northwestern Azeri population. Iran J Allergy Asthma Immunol 2018;17(6):526–532.
  • Das S, Miller M, Broide DH. Chromosome 17q21 genes ORMDL3 and GSDMB in asthma and immune diseases. Adv Immunol 2017;135:1–52. doi:10.1016/bs.ai.2017.06.001.
  • Kim LH, Chang H, Namgoong S, Kim JO, Cheong HS, Lee SG, Park JS, Baek AR, Koo SM, Choi IS, et al. Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases. Allergy Asthma Proc 2017;38(1):4–12. doi:10.2500/aap.2017.38.4014.
  • Li Y, Cao L, Yu Q, Xue H, Lu Y. Association between peripheral blood mononuclear cell ORMDL3 expression and the asthma predictive index in preschool children. J Int Med Res 2019;47(8):3727–3736. doi:10.1177/0300060519862674.
  • Zihlif M, Obeidat NM, Zihlif N, Mahafza T, Froukh T, Ghanim MT, Beano H, Al-Akhras FM, Naffa R. Association between gasdermin A and gasdermin B polymorphisms and susceptibility to adult and childhood asthma among Jordanians. Genet Test Mol Biomarkers 2016;20(3):143–148. doi:10.1089/gtmb.2015.0174.
  • Bateman ED, Hurd SS, Barnes PJ, Bousquet J, Drazen JM, FitzGerald JM, Gibson P, Ohta K, O’Byrne P, Pedersen SE, et al. Global strategy for asthma management and prevention: GINA executive summary. Eur Respir J 2008;31(1):143–178. doi:10.1183/09031936.00138707.
  • Camargo CAJr.,Rachelefsky G, Schatz M. Managing asthma exacerbations in the emergency department: summary of the National Asthma Education and Prevention Program Expert Panel Report 3 guidelines for the management of asthma exacerbations. J Allergy Clin Immunol 2009;124(2 Suppl):10.
  • Liu M, Rogers L, Cheng Q, Shao Y, Fernandez-Beros ME, Hirschhorn JN, Lyon HN, Gajdos ZKZ, Vedantam S, Gregersen P, et al. Genetic variants of TSLP and asthma in an admixed urban population. PLoS One 2011;6(9):e25099. doi:10.1371/journal.pone.0025099.
  • American-Thorasic-Society. Guidelines for assessing and managing asthma risk at work, school, and recreation. Am J Respir Crit Care Med 2004;169(7):873–881.
  • Ghani MU, Sabar MF, Shahid M, Awan FI, Akram M. A report on asthma genetics studies in Pakistani population. Adv Life Sci 2017;4(2):6.
  • Liu XT, Ren L, Zhou LL, Xiao QY, Deng Y, Liu EM. ORMDL3 variants associated with bronchiolitis susceptibility in a Chinese population. Genet Mol Res 2015;14(4):19155–19162. doi:10.4238/2015.December.29.25.
  • Miyake Y, Tanaka K, Arakawa M. Association between 17q12-21 variants and asthma in Japanese women: rs11650680 polymorphism as potential genetic marker for asthma. DNA Cell Biol 2014;33(8):531–536. doi:10.1089/dna.2014.2387.
  • Shahid M, Sabar MF, Bano I, Rahman Z, Iqbal Z, Fatim Ali SS, Ghani MU, Iqbal M, Husnain T. Sequence variants on 17q21 are associated with the susceptibility of asthma in the population of Lahore, Pakistan. J Asthma 2015;52(8):777–784. doi:10.3109/02770903.2015.1012590.
  • Afzal S, Ramzan K, Khan I, Ullah A, Tahir AI, Ramzan S, Ullah S, Jamal A, Absar M, Basit S, et al. Thymic Stromal Lymphopoietin (TSLP) gene variant rs1837253 is significantly associated with Asthma prevalence in Pakistani Pashtun women. Pak J Pharm Sci 2020;33(6):9. doi:10.36721/PJPS.2020.33.6.SUP.2729-2737.1.
  • Sole X, Guino E, Valls J, Iniesta R, Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006;22(15):1928–1929. doi:10.1093/bioinformatics/btl268.
  • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21(2):263–265. doi:10.1093/bioinformatics/bth457.
  • Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res 2012;22(9):1790–1797. doi:10.1101/gr.137323.112.
  • Guo L, Du Y, Chang S, Zhang K, Wang J. rSNPBase: a database for curated regulatory SNPs. Nucleic Acids Res 2014;42:26.
  • EPR-3, National Asthma Education and Prevention Program. Expert Panel Report 3 (EPR-3): guidelines for the diagnosis and management of asthma-summary report 2007. J Allergy Clin Immunol 2007;120(5 Suppl):S94–S138. doi:10.1016/j.jaci.2007.09.043.
  • Zhang J, Paré PD, Sandford AJ. Recent advances in asthma genetics. Respir Res 2008;9(1):4. doi:10.1186/1465-9921-9-4.
  • Halapi E, Gudbjartsson DF, Jonsdottir GM, Bjornsdottir US, Thorleifsson G, Helgadottir H, Williams C, Koppelman GH, Heinzmann A, Boezen HM, et al. A sequence variant on 17q21 is associated with age at onset and severity of asthma. Eur J Hum Genet 2010;18(8):902–908. doi:10.1038/ejhg.2010.38.
  • Kang MJ, Yu HS, Seo JH, Kim HY, Jung YH, Kim YJ, Kim HJ, Lee SY, Hong SJ. GSDMB/ORMDL3 variants contribute to asthma susceptibility and eosinophil-mediated bronchial hyperresponsiveness. Hum Immunol 2012;73(9):954–959. doi:10.1016/j.humimm.2012.06.009.
  • Moffatt MF, Gut IG, Demenais F, Strachan DP, Bouzigon E, Heath S, von Mutius E, Farrall M, Lathrop M, Cookson W. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010;363(13):1211–1221. doi:10.1056/NEJMoa0906312.
  • Lluis A, Schedel M, Liu J, Illi S, Depner M, von Mutius E, Kabesch M, Schaub B. Asthma-associated polymorphisms in 17q21 influence cord blood ORMDL3 and GSDMA gene expression and IL-17 secretion. J Allergy Clin Immunol 2011;127(6):1587–1594. doi:10.1016/j.jaci.2011.03.015.
  • Willis-Owen SAG, Cookson WOC, Moffatt MF. The genetics and genomics of asthma. Annu Rev Genom Hum Genet 2018;19(1):223–246. doi:10.1146/annurev-genom-083117-021651.
  • Cantero-Recasens G, Fandos C, Rubio-Moscardo F, Valverde MA, Vicente R. The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress. Hum Mol Genet 2010;19(1):111–121. doi:10.1093/hmg/ddp471.
  • Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, Ejsing CS, Weissman JS. Orm family proteins mediate sphingolipid homeostasis. Nature 2010;463(7284):1048–1053. doi:10.1038/nature08787.
  • Ha SG, Ge XN, Bahaie NS, Kang BN, Rao A, Rao SP, Sriramarao P. ORMDL3 promotes eosinophil trafficking and activation via regulation of integrins and CD48. Nat Commun 2013;4(1):2479. doi:10.1038/ncomms3479.
  • Galanter J, Choudhry S, Eng C, Nazario S, Rodriguez-Santana JR, Casal J, Torres-Palacios A, Salas J, Chapela R, Watson HG, et al. ORMDL3 gene is associated with asthma in three ethnically diverse populations. Am J Respir Crit Care Med 2008;177(11):1194–1200. doi:10.1164/rccm.200711-1644OC.
  • Zhao CN, Fan Y, Huang JJ, Zhang HX, Gao T, Wang C, Wang T, Hou LF. The association of GSDMB and ORMDL3 gene polymorphisms with asthma: a meta-analysis. Allergy Asthma Immunol Res 2015;7(2):175–185. doi:10.4168/aair.2015.7.2.175.
  • Ziani M, Henry AP, Hall IP. Association study between asthma and single nucleotide polymorphisms of ORMDL3, GSDMB, and IL1RL1 genes in an Algerian population. Egypt J Med Hum Genet 2021;22(1):40. doi:10.1186/s43042-021-00163-y.
  • Katoh M, Katoh M. Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon. Int J Oncol 2004;24(4):757–763. doi:10.3892/ijo.24.4.757.
  • Tanaka S, Mizushina Y, Kato Y, Tamura M, Shiroishi T. Functional conservation of Gsdma cluster genes specifically duplicated in the mouse genome. G3 (Bethesda). 2013;3(10):1843–1850. doi:10.1534/g3.113.007393.
  • Komiyama H, Aoki A, Tanaka S, Maekawa H, Kato Y, Wada R, Maekawa T, Tamura M, Shiroishi T. Alu-derived cis-element regulates tumorigenesis-dependent gastric expression of GASDERMIN B (GSDMB). Genes Genet Syst 2010;85(1):75–83. doi:10.1266/ggs.85.75.
  • Saeki N, Usui T, Aoyagi K, Kim DH, Sato M, Mabuchi T, Yanagihara K, Ogawa K, Sakamoto H, Yoshida T, et al. Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium. Genes Chromosom Cancer 2009;48(3):261–271. doi:10.1002/gcc.20636.
  • Broide DH. Immunologic and inflammatory mechanisms that drive asthma progression to remodeling. J Allergy Clin Immunol 2008;121(3):560–570. doi:10.1016/j.jaci.2008.01.031.
  • Schwantes EA, Evans MD, Cuskey A, Burford A, Smith JA, Lemanske RFJr., Jarjour NN, Mathur SK. Elevated fractional exhaled nitric oxide and blood eosinophil counts are associated with a 17q21 asthma risk allele in adult subjects. JAA 2017;11:1–9. doi:10.2147/JAA.S149183.
  • Tomita K, Sakashita M, Hirota T, Tanaka S, Masuyama K, Yamada T, Fujieda S, Miyatake A, Hizawa N, Kubo M, et al. Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population. Allergy. 2013;68(1):92–100. doi:10.1111/all.12066.
  • Li FX, Tan JY, Yang XX, Wu YS, Wu D, Li M. Genetic variants on 17q21 are associated with asthma in a Han Chinese population. Genet Mol Res 2012;11(1):340–347. doi:10.4238/2012.February.10.5.
  • Himes BE, Lasky-Su J, Wu AC, Wilk JB, Hunninghake GM, Klanderman B, Murphy AJ, Lazarus R, Soto-Quiros ME, Avila L, et al. Asthma-susceptibility variants identified using probands in case-control and family-based analyses. BMC Med Genet 2010;11(1):122. doi:10.1186/1471-2350-11-122.
  • Rogers AJ, Raby BA, Lasky-Su JA, Murphy A, Lazarus R, Klanderman BJ, Sylvia JS, Ziniti JP, Lange C, Celedon JC, et al. Assessing the reproducibility of asthma candidate gene associations, using genome-wide data. Am J Respir Crit Care Med 2009;179(12):1084–1090. doi:10.1164/rccm.200812-1860OC.
  • Verlaan DJ, Berlivet S, Hunninghake GM, Madore AM, Lariviere M, Moussette S, Grundberg E, Kwan T, Ouimet M, Ge B, et al. Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet 2009;85(3):377–393. doi:10.1016/j.ajhg.2009.08.007.
  • Li X, Hastie AT, Hawkins GA, Moore WC, Ampleford EJ, Milosevic J, Li H, Busse WW, Erzurum SC, Kaminski N, et al. eQTL of bronchial epithelial cells and bronchial alveolar lavage deciphers GWAS-identified asthma genes. Allergy 2015;70(10):1309–1318. doi:10.1111/all.12683.
  • Rebollo A, Schmitt C. Ikaros, Aiolos and Helios: transcription regulators and lymphoid malignancies. Immunol Cell Biol 2003;81(3):171–175. doi:10.1046/j.1440-1711.2003.01159.x.
  • Blekic M, Kljaic Bukvic B, Aberle N, Marinho S, Hankinson J, Custovic A, Simpson A. 17q12-21 and asthma: interactions with early-life environmental exposures. Ann Allergy Asthma Immunol 2013;110(5):347–353.e2. doi:10.1016/j.anai.2013.01.021.
  • Fang Q, Zhao H, Wang A, Gong Y, Liu Q. Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population. BMC Med Genet 2011;12(1):133. doi:10.1186/1471-2350-12-133.
  • Sved JA, Hill WG. One hundred years of linkage disequilibrium. Genetics 2018;209(3):629–636. doi:10.1534/genetics.118.300642.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.