SNP data of: Disease - Asthma and Biological sample - Airway Epithelial Cells

SL. No.Gene Name SNP InvolvedCommentsReference (PMID)
1SOCS1-1478CA > delA significant association was noted between an SOCS1 promoter polymorphism -1478CA > del and adult asthma.17099141
2SOCS1rs243327There was a positive association in the genotype frequency of –3969C>T of the SOCS1 gene and the most severe cases of adult asthma in an allelic test.17099141
3TNFrs1800629The TNFα -308 (G/A) polymorphism may be associated with increased pollutant-associated effects on FEV1 intraday variability for both SO2 and NO. The A allele may increase susceptibility to the adverse effects of air pollutants.27001655
4TNFrs1800629 TNF-α - 308 G/A polymorphism was significantly correlated with the risk of asthma in West Asians.30176222
5TNFrs1799724TNF-α - 857C/T polymorphism was significantly correlated with the risk of asthma in Caucasians.30176222
6TNFrs1799964TNF-α - 1031 T/C polymorphism was significantly correlated with the risk of asthma in Caucasians and East Asians.30176222
7TNFrs361525TNF-α - 238 G/A polymorphism was significantly correlated with the risk of asthma in Caucasians.30176222
8TNFrs1800630TNF-α - 863C/A polymorphism was significantly correlated with the risk of asthma in East Asians.30176222
9TNFrs1800629TNFalpha -308 G/A polymorphism contributes to susceptibility to asthma.21082225
10TNFrs1800629Compared to the control subjects, univariate analysis showed a significant negative association of the TNFalpha -308G>A polymorphism with atopic asthma, atopic dermatitis, asthma and skin symptoms and positive SPT.27240833
11TNFrs1800629In a dominant model, TNFalpha rs1800629 SNP conferred an increased risk of Diisocyanate induced Asthma (DA).25721048
12TNFrs1800629There was a strong association between the TNFalpha gene promoter polymorphism (-308G/A) and the development to asthma in both children and adults.31161819
13TNFrs1800629TNFalpha -308A/G polymorphism is a risk factor for asthma.25668892
14TNFrs1800629TNFalpha genetic polymorphism (-308G/A) could have a role in the development of bronchial asthma among Egyptian children.30600954
15TNFrs1799724TNFalpha -857C/T polymorphism is a risk factor for asthma.25668892
16TNFrs1800629 The rs1800629 polymorphism in TNF-α was a risk factor for asthma.24936650
17TNFrs1800629Genetic variation in TNF-α-308G/A may contribute to childhood asthma and wheezing.23376082
18TNFrs1800630The TNFA-863C > A polymorphism in the promoter region of TNFA may influence TNF-alpha expression and affect TsIgE levels and susceptibility to asthma.16728705
19TNFrs1800629An association between TNF-alpha G-308A (rs1800629) and asthma was noted in the North Indian population.16393721
20TNFrs1800629The TNFalpha promoter polymorphism rs1800629 (-308G/A) might be associated with severe broncho hyperresponsiveness in Korean children with asthma.17196641
21TNFrs1800629TNF-alpha -308A allele frequency was higher in asthmatics than in controls.23527710
22TNFrs361525TNF-alpha -238A allele frequency was higher in asthmatics than in controls.23527710
23EGFRrs4947972EGFR gene polymorphism (rs4947972) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults.20357714
24EGFRrs12718945EGFR gene polymorphism (rs12718945) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults.20357714
25EGFRrs2227983EGFR gene polymorphism (rs2227983) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults.20357714
26EGFRrs2072454EGFR gene polymorphism (rs2072454) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults.20357714
27EGFRrs2293347EGFR gene polymorphism (rs2293347) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults.20357714
28SOCS3rs9914220The polymorphism of the SOCS3 gene rs9914220 site is correlated with the onset of childhood asthma.31539147
29SOCS3rs4969170Compared with GG/GA genotype in SOCS3 rs4969170, AA genotype obviously increased the susceptibility to asthma in children.26464723
30SOCS3rs4969168Differently in rs4969168, AG and AG/GG genotypes distributions had significant differences in the asthma patient and control groups.26464723
31SPP1rs1126616Haplotype analysis identified rs1126616C-rs1126772A-rs9138A to be associated with an increased risk for asthma, severity of asthma and asthma in subjects with elevated IgE.22276228
32SPP1rs9138Haplotype analysis identified rs1126616C-rs1126772A-rs9138A to be associated with an increased risk for asthma, severity of asthma and asthma in subjects with elevated IgE.22276228
33SPP1rs1126772Haplotype analysis identified rs1126616C-rs1126772A-rs9138A to be associated with an increased risk for asthma, severity of asthma and asthma in subjects with elevated IgE.22276228
34ITGB8rs6461503rs6461503 was associated with asthma and allergic diseases.29785011
35FBXL7rs10044254rs10044254 was associated with both decreased expression of FBXL7 and improved symptomatic response to Inhaled Corticosteroids in 2 independent pediatric asthma cohorts.24486069
36TLR2rs4696480TLR2 rs4696480 polymorphism is significantly associated with asthma susceptibility and the TLR2 rs4696480 polymorphism is a risk factor for asthma.28514297
37TLR2rs3804099rs3804099 of TLR2 was significantly associated with asthma risk.28858111
38TLR2rs3804099The TLR2 +596C/T SNP was found to be significantly associated to asthma particularly to females.27495363
39TLR2rs3804100Both Type 1 Diabetes and allergic asthma were significantly associated with the TLR2 rs3804100 T allele and further associated with the haplotype including this SNP, possibly representing a susceptibility locus common for the two diseases.19148143
40TLR2rs5743708TLR2 Arg753Gln (rs5743708) might contribute significantly to asthma susceptibility.25729620
41ORMDL3rs11650680In rs11650680 of ORMDL3 gene the CT genotype is more prevalent in female asthma cases in comparison with female controls.29588858
42ORMDL3rs8076131The 17q12-21 locus has a strong genetic association with Allergic Asthma but not with Allergic Rhinitis. The polymorphic effect of this locus is attributed to the linkage set tagged by rs8076131, which affects the expression of ORMDL3, PPP1R1B, ZPBP2 and GSDMB and is correlated with high IgE levels and eosinophil counts in subjects bearing the risk genotype.26483175
43ORMDL3rs8076131rs8076131 was suggestive of case control status considering the major allele in a dominant model. This SNP was associated with asthma.28668238
44ORMDL3rs4065275The asthma-risk variants rs4065275 and rs12936231 switched CTCF-binding sites in the 17q21 locus and 4C-Seq assays showed that several distal cis-regulatory elements upstream of the disrupted ZPBP2 CTCF-binding site interacted with the ORMDL3 promoter region in CD4+ T cells exclusively from subjects carrying asthma-risk alleles.27848966
45ORMDL3rs4795405rs4795405 was significantly associated with asthma.27439200
46ORMDL3rs12603332The risk allele (C allele) for rs12603332 was found to be significantly associated with male asthma patients residing in urban localities of Lahore.28055272
47ORMDL3rs7216389rs7216389 was significantly associated with increased asthma risk in overall population. Children with variant T allele (TT or TC) and adults with TT homozygote in rs7216389 are at high risks to suffer from asthma.26064206
48ORMDL3rs11650680People with T allele in rs11650680 are protected from asthma.26064206
49ORMDL3rs12603332People with T allele in rs12603332 are protected from asthma.26064206
50ORMDL3rs7216389The ORMDL3 gene influences childhood asthma and the TT genotype of the rs7216389 polymorphism is associated with childhood asthma in the Chinese population.23096927
51IL1Ars17561Gain-of-function IL1A rs17561 resulted significantly associated with a reduced pulmonary capacity in asthmatic children.29154202
52IL1Ars17561The distribution of the IL1A genotype (G4845T) differed significantly between asthmatics with and without nasal polyposis. The risk of nasal polyposis was markedly increased in allele G homozygous subjects.12752325
53IL1Ars1800587IL-1alpha -889C/C homozygous condition was significantly associated with asthma.23527710
54IL6Rrs2228145An increased risk of atopic asthma compared to non-atopic asthma per copy of the minor allele of rs2228145. There was a positive association between the Asp358Ala variant and atopic asthma. Enhanced shedding of sIL-6R from neutrophils of Asp358Ala homozygotes and an increase in the MCP1 release from lung endothelial cells provides evidence of a mechanism through which IL-6 trans-signaling may contribute to disease severity in severe, neutrophil-driven, asthma phenotypes.28334838
55IL6Rrs2228145rs2228145 C is associated with poor lung function in patients with asthma. The rs2228145 A-C variant is associated with levels of sIL-6R and IgE.26997259
56IL6Rrs12083537rs12083537 G is associated with poor lung function in patients with asthma.26997259
57IL6Rrs2228145The IL6R coding SNP rs2228145 (Asp(358)Ala) is a potential modifier of lung function in subjects with asthma and might identify subjects at risk for more severe asthma.22554704
58IL6Rrs12083537rs12083537:A allele increased asthma risk by 1.04-fold.23945879