Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study

Allergologia et Immunopathologia - Tập 47 - Trang 159-165 - 2019
Imen Wahabi1, Sondess Hadj Fredj1, Malek Nefzi1, Rym Dabboubi1, Hajer Siala1, Fatma Khalsi2, Khedija Bousetta2, Taieb Messaoud1
1Biochemistry Laboratory (LR00SP03), Children's Hospital, Tunis, Tunisia
2Pediatric Department, Children's Hospital, Tunis, Tunisia

Tài liệu tham khảo

Boulet, 2015, The revised 2014 GINA strategy report: opportunities for change, Curr Opin Pulm Med, 21, 1, 10.1097/MCP.0000000000000125

Makoto, 2013, Pathology of asthma, Front Microbiol, 4, 263

Luke, 2016, Epithelial tethering of MUC5AC-rich mucus impairs mucociliary transport in asthma, J Clin Invest, 126, 2367, 10.1172/JCI84910

Toujani, 2018, Prevalence of asthma and rhinitis in a Tunisian population, Clin Respir J, 12, 608, 10.1111/crj.12570

Barnes, 2002, Genetics and epidemiology, Curr Opin Allergy Clin Immunol, 2, 375, 10.1097/00130832-200210000-00001

Dixit, 2015, CFTR gene mutations and asthma in indian children: a case–control study, Ind J Clin Biochem, 30, 35, 10.1007/s12291-013-0400-6

Susan, 2018, Development of an airway mucus defect in the cystic fibrosis rat, JCI Insight, 3, e97199, 10.1172/jci.insight.97199

Murphy, 2015, Methylomic markers of persistent childhood asthma: a longitudinal study of asthma-discordant monozygotic twins, Clin Epigenet, 7, 130, 10.1186/s13148-015-0163-4

De Cid, 2001, CFTR and asthma in the French EGEA study, Eur J Hum Genet, 9, 67, 10.1038/sj.ejhg.5200578

Nikolic, 2006, Analysis of common CFTR polymorphisms 5T, M470V, and R75Q in healthy Serbian population, Genetika, 42, 996

Boudaya, 2012, Cystic fibrosis transmembrane conductance regulator mutation and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa, Ann Hum Biol, 39, 76, 10.3109/03014460.2011.642892

American Lung Association. Lung Disease Data: 2008. New York, NY: American Lung Association, http://www.lung.org/assets/documents/publications/lung-disease data/LDD_2008.pdf; 2008 [accessed 07.01.12].

Romdhane, 2011, Genetic diseases in the Tunisian population, Am J Med Genet, 155A, 238, 10.1002/ajmg.a.33771

Du, 2014, M470V, Intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the Vas Deferens, Biomed Res Int, 2014, 689185, 10.1155/2014/689185

Chang, 2007, Spectrum of mutations and variants/haplotypes of CFTR and genotype–phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis, Clin Genet, 71, 530, 10.1111/j.1399-0004.2007.00813.x

Wang, 2012, The susceptibility of T5-TG12 of the CFTR gene in chronic bronchitis occurrence in a Chinese population in Jiangsu province, China, J Biomed Res, 26, 410, 10.7555/JBR.26.20120015

Kim, 2010, Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea, Yonsei Med J, 51, 912, 10.3349/ymj.2010.51.6.912

Lázaro, 1999, Missense mutations in the cystic fibrosis gene in adult patients with asthma, Hum Mutat, 14, 510, 10.1002/(SICI)1098-1004(199912)14:6<510::AID-HUMU10>3.0.CO;2-O

Hakonarson, 2001, Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland, Am J Respir Crit Care Med, 164, 2036, 10.1164/ajrccm.164.11.2101086

Fujiki, 2004, Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis, J Med Genet, 41, e55, 10.1136/jmg.2003.014456

Modiano, 2005, A large-scale study of the random variability of a coding sequence: a study on the CFTR gene, Eur J Hum Genet, 13, 184, 10.1038/sj.ejhg.5201306

Chunying, 2010, CFTR chloride channel in the apical compartments: spatiotemporal coupling to its interacting partners, Integr Biol (Camb), 2, 161, 10.1039/b924455g

Michoud, 2009, Role of the cystic fibrosis transmembrane conductance channel in human airway smooth muscle, Am J Respir Cell Mol Biol, 40, 217, 10.1165/rcmb.2006-0444OC

McCuaig, 2013, How the airway smooth muscle in cystic fibrosis reacts in proinflammatory conditions: implications for airway hyper-responsiveness and asthma in cystic fibrosis, Lancet Respir Med, 1, 137, 10.1016/S2213-2600(12)70058-9

Eisner, 2005, Directly measured second hand smoke exposure and asthma health outcomes, Thorax, 60, 814, 10.1136/thx.2004.037283

Eisner, 1998, Environmental tobacco smoke and adult asthma: the impact of changing exposure status on health outcomes, Am J Respir Crit Care Med, 158, 170, 10.1164/ajrccm.158.1.9801028

Soussan, 2003, Treatment compliance, passive smoking, and asthma control: a three year cohort study, Arch Dis Child, 88, 229, 10.1136/adc.88.3.229

Kim, 2008, The link between allergic rhinitis and asthma: a role for antileukotrienes?, Can Respir J, 15, 91, 10.1155/2008/416095

Simons, 1999, Allergic rhinobronchitis: the asthma-allergic rhinitis link, J Allergy Clin Immunol, 104, 534, 10.1016/S0091-6749(99)70320-9

Leynaert, 2000, Epidemiologic evidence for asthma and rhinitis comorbidity, J Allergy Clin Immunol, 106, 201, 10.1067/mai.2000.110151

Spergel, 2005, Atopic march: link to upper airways, Curr Opin Allergy Clin Immunol, 5, 17, 10.1097/00130832-200502000-00005

Gradman, 2006, Allergic conjunctivitis in children with asthma, rhinitis and eczema in a secondary outpatient clinic, Pediatr Allergy Immunol, 17, 524, 10.1111/j.1399-3038.2006.00429.x