SNP data of: Disease - Asthma and
Biological sample - Blood
SL. No. | Gene Name | SNP Involved | Comments | Reference (PMID) |
1 | STAT1 | rs3771300 | The polymorphism C39134A (rs3771300), located in a potentially cis acting regulatory element in STAT1 intron 24, was inversely related to atopy measured by skin prick test, total and specific serum IgE levels. STAT1 SNP C39134A may protect from atopic sensitization. | 17983380 |
2 | STAT3 | G3363a16 | G3363a16 was significantly associated with baseline FEV1: homozygotes for the minor allele of the polymorphism had lower FEV1 than homozygotes for the major alleles. | 15935090 |
3 | STAT3 | rs1026916 | rs1026916 was significantly associated with baseline FEV1: homozygotes for the minor allele of the polymorphism had lower FEV1 than homozygotes for the major alleles. | 15935090 |
4 | STAT3 | rs957971 | rs957971 was significantly associated with baseline FEV1: homozygotes for the minor allele of the polymorphism had lower FEV1 than homozygotes for the major alleles. | 15935090 |
5 | STAT3 | rs2293452 | A significant association between STAT3 polymorphism (rs2293452) and asthma susceptibility in atopic asthma. Polymorphism of STAT3 (rs2293452) may be useful as a new DNA-based diagnostic biomarker for identifying high-risk children susceptible to asthma. | 21624746 |
6 | DUSP1 | rs881152 | rs881152 was significantly associated with bronchodilator responsiveness in asthma patients. | 20673984 |
7 | DUSP1 | rs34507926 | rs34507926 genotype was significantly associated with bronchodilator responsiveness in the asthmatics. | 20673984 |
8 | EGFR | rs4947972 | EGFR gene polymorphism (rs4947972) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults. | 20357714 |
9 | EGFR | rs12718945 | EGFR gene polymorphism (rs12718945) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults. | 20357714 |
10 | EGFR | rs2227983 | EGFR gene polymorphism (rs2227983) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults. | 20357714 |
11 | EGFR | rs2072454 | EGFR gene polymorphism (rs2072454) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults. | 20357714 |
12 | EGFR | rs2293347 | EGFR gene polymorphism (rs2293347) might be associated with presence of asymptomatic Airway Hyperresponsiveness (AHR) in young allergic adults. | 20357714 |
13 | miR-146a | rs2910164 | The CG/GG genotype of miR-146a rs2910164 was associated with higher bronchial hyperresponsiveness to methacholine compared with the CC genotype in asthmatic patients. | 28527151 |
14 | miR-146a | rs2910164 | The miR-146a rs2910164 polymorphism CC genotype was identified to be significantly associated with an increased risk of Bronchial hyperresponsiveness (BHR) in response to intubation in patients exhibiting basic pulmonary disease (such as asthma, emphysema and bronchitis) when compared with the GG or GC genotype. | 27431205 |
15 | GLCCI1 | rs11976862 | rs11976862 homozygote mutant genotype GG was nominally associated with increased asthma risk. Changes of GLCCI1 mRNA expression were significantly related with rs11976862 in a recessive model. | 27133712 |
16 | GLCCI1 | rs37972 | rs37972 showed marginal association with asthma susceptibility after adjusting for covariates. Significant correlations of change in FEV1 after corticosterois treatment were observed for rs37972. | 27133712 |
17 | GLCCI1 | rs37973 | Changes of GLCCI1 mRNA expression and FEV1 after corticosteroid treatment were significantly related with rs37973 in a recessive model. | 27133712 |
18 | GLCCI1 | rs58272960 | rs58272960 showed marginal association with asthma susceptibility after adjusting for covariates. | 27133712 |
19 | GLCCI1 | rs37972 | TT of rs37972 was associated with a higher number of asthma treatment steps. The amount of GLCCI1 protein that cultured epithelial cells harboring GLCCI1 variants produced was less than the GLCCI1 wild type in the presence of a corticosteroid. | 28488322 |
20 | GLCCI1 | rs37973 | GG of rs37973 was associated with a higher number of asthma treatment steps. The amount of GLCCI1 protein that cultured epithelial cells harboring GLCCI1 variants produced was less than the GLCCI1 wild type in the presence of a corticosteroid. | 28488322 |
21 | GLCCI1 | rs37973 | rs37973 in GLCCI1 is associated with treatment response in asthma; however, this association is highly modified by smoking status and atopy. | 29345236 |
22 | GLCCI1 | rs37973 | The genetic variant rs37973 in GLCCI1 is associated with poorer clinical therapeutic response to inhaled glucocorticoids in Chinese asthma population. | 29384926 |
23 | GLCCI1 | rs37973 | The serum levels of epinephrine and cortisol was significantly higher in GLCCI1 rs37973 GG genotype group than those in AA + GG gentotype group. The poor ICS response in GLCCI1 rs37973 mutant genotype might be related to the less increased amplitudes of plasma epinephrine and cortisol in asthmatic patients. | 30937140 |
24 | TLR4 | rs4986791 | rs4986791 of TLR4 was significantly associated with asthma risk. | 28858111 |
25 | TLR4 | rs4986790 | TLR4 Asp299Gly (rs4986790) might contribute significantly to asthma susceptibility. | 25729620 |
26 | TLR4 | rs4986791 | rs4986791 of TLR4 (1196 C>T) genotype was more frequent in nasal polyposis group than control group. The frequencies of the TLR4 (1196 C>T) CT and TT genotypes were higher in asthmatic patients as compared with those without asthma. It was observed that the probability of nasal polyposis was 62.7% in presence of TLR4 (1196 C>T) polymorphism with asthma. | 31304782 |
27 | FOXP3 | rs56066773 | The mutated allele of 7340C>T was significantly associated with the simultaneous presence of autoimmunity and atopy in male children. | 25982578 |
28 | FOXP3 | rs2232367 | A significant increase in the frequency of the mutated allele of 1651C>T in the male control group as compared to patients with atopy and autoimmunity. | 25982578 |
29 | VEGFA | rs3025020 | The T allele in rs3025020 was significantly more prevalent in the asthma group than in controls. The VEGF SNPs rs3025020 may be associated with the development of asthma, indicating the role of VEGF in asthma. | 27173321 |
30 | VEGFA | rs3025039 | The T allele in rs3025039 was significantly more prevalent in the asthma group than in controls. The VEGF SNPs rs3025039 may be associated with the development of asthma, indicating the role of VEGF in asthma. | 27173321 |
31 | VEGFA | rs2010963 | A borderline association with asthma was found for the G allele in the −634G > C polymorphism (rs2010963). | 19787077 |
32 | VEGFA | rs2146323 | Polymorphism rs2146323 A>C in VEGFA was associated with response to Inhaled Corticosteroid therapy in asthmatics. Asthma patients with the AA genotype had a greater improvement in the %predicted FEV(1) than those with the AC or CC genotype. Conversely, the AA genotype in rs2146323 was associated with uncontrolled asthma in patients regularly receiving LTRA therapy and a worse FEV(1)/FVC ratio in asthma patients who episodically used LTRA therapy. | 22519966 |
33 | VEGFA | rs833058 | Polymorphism rs833058 C>T was associated with treatment response to episodically used LTRA therapy in asthmatics. A subgroup of asthma patients with the TT genotype had an improvement in the %predicted FEV(1) as compared with no improvement in patients with the CT or CC genotype. | 22519966 |
34 | VEGFA | -2549 -2567 del18 | The presence of del18 genotype at -2549 -2567 position in the promoter of VEGF gene along with disease duration and other factors like cigarette smoking, associate with the risk of irreversible bronchoconstriction in asthmatics. | 30574871 |