Abstract：Objective To investigate ORMDL3 polymorphisms in children with asthma in Hunan, China, and to determine the relationship between ORMDL3 polymorphisms and serum osteopontin (OPN) and transforming growth factor-β1 (TGF-β1) levels. Methods Peripheral blood samples were collected in children with asthma (n=98; astma group) or without asthma (n=30; control group) from Hunan, China. The asthma group was subdivided into atopic (n=62) and non-atopic (n=36) subgroups. Single nucleotide polymorphism (SNP) analysis was performed, and serum OPN and TGF-β1 levels were measured. Results There were no significant differences in genotype and allele frequencies of rs7216389 of the ORMDL3 gene between the asthma and control groups. The serum level of OPN in the asthma group was significantly higher than in the control group (PPPr=0.620; Pr=0.734, 0.649 respectively; PConclusions In children from Hunan, China, the SNP (rs7216389) of ORMDL3 is not related to asthma susceptibility. OPN and TGF-β1 may be involved in the development of asthma, and they are in a positive linear correlation. The SNP (rs7216389) of ORMDL3 does not influence the expression of OPN and TGF-β1, suggesting that it may not be associated with airway remodeling.
YANG Ai-Mei,HUANG Rong,JIN Shi-Jie. ORMDL3 polymorphisms and their relationship with OPN and TGF-β1 levels in children with asthma in Hunan, China: an analysis of 98 cases[J]. CJCP, 2016, 18(4): 324-328.
BaiJ, ZhaoJ, ShenKL, et al . Current trends of the prevalenceofchildhood asthma in three Chinese cities: a multicenter epidemiological survey[J]. Biomed Environ Sci, 2010, 23(6): 453-457.
[2]
Moffatt MF, KabeschM, LiangL, et a1. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma[J]. Nature, 2007, 448(7152): 470-473.
Tischer C, Chen CM, Heinrich J. Association between domestic mouldand mouhl components, and asthma anti allergy in chihlren: a systematicreviewl[J]. EurRespir J, 2011, 38(4): 812-824.
[7]
Dong GH, Ma YN, Ding Hl, et al. Pets keeping in home, parental atopy, asthmaand asthma-related symptoms in l2,910 elementary school children from Northeast China[J]. Indoor Air, 2009, 19(2): 166-173.
[8]
BreslowDK, Collins SR, Bodenmiller B, et al. Orm family proteins mediate sphingolipid homeostasis[J]. Nature, 2010, 463(7284): 1048-1053.
[9]
Cantero-Recasens G, Fandos C, Rubio-Moscardo F, et a1. The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress[J]. Hum Mol Genet, 2010, 19 (1): 111-121.
[10]
Tavendale R, Macgregor DF, Mukhopadhyay S, et al. A polymorphism controllingORMDL3 expression is associated with asthma that is poorly controlled by current medications[J]. J Allergy Clin Immunol, 2008, 121(4): 860-863.
Halapi E, Gudbjartsson DF, Jonsdpttir GM, et al. Asequence variant on 17q21 is associated with age at onset and severity of asthma[J]. Eur J Hum Genet, 2010, 18(8): 902-908.
[15]
Pinto LA, Stein RT, Kabesch M. Impact of genetics in childhood asthma[J]. J Pediatr(Rio J), 2008, 84(4): s68-s75.
Kohan M, Breuer R, BerkmanN, et al. Osteopontin induces airway remodeling and lung fibroblast activation in a murine model of asthma[J]. Am J Respir Cell Mol Biol, 2009, 41(3): 290-296.
[18]
Boulassel MR, Mercier F, Gilmore N, et al. Immunophenotypic patterns of CD8+ T cell subsets expressing CD8alphaalpha and IL7Ralpha in viremic, aviremic and slow progress or HIV-1-infectedsubjects[J]. Clin Immunol, 2007, 124(2): 149-157.
[19]
Puxeddu I, Berkman N, Ribatti D, et al. Osteopontin is expressed and functional in human eosinophils[J]. Allergy, 2010, 65(2): 168-174.
[20]
Makinde T, Murphy RF, Agrawal DK. The regulatory role of TGF-beta in airway remodeling in asthma[J]. Immunol Cell Biol, 2007, 85(5): 348-356.
[21]
Singh M, Foster CR, Dalal S, et al. Osteopontin:role in extracellular matrix deposition and myocardial remodelingpost-MI[J]. J Mol Cell Cardiol, 2010, 48(3): 538-543.
