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rs37973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 possibly better response to inhaled corticosteroids in asthma
(A;G) 0 likely normal response to inhaled corticosteroids in asthma
(G;G) 1.5 possibly weaker response to inhaled corticosteroids in asthma
ReferenceGRCh38 38.1/141
Chromosome7
Position7968245
GeneGLCCI1, LOC100505921
is asnp
is mentioned by
dbSNPrs37973
dbSNP (classic)rs37973
ClinGenrs37973
ebirs37973
HLIrs37973
Exacrs37973
Gnomadrs37973
Varsomers37973
LitVarrs37973
Maprs37973
PheGenIrs37973
Biobankrs37973
1000 genomesrs37973
hgdprs37973
ensemblrs37973
geneviewrs37973
scholarrs37973
googlers37973
pharmgkbrs37973
gwascentralrs37973
openSNPrs37973
23andMers37973
SNPshotrs37973
SNPdbers37973
MSV3drs37973
GWAS Ctlgrs37973
GMAF0.3921
Max Magnitude2

rs37973 is a SNP in the promoter region of the glucocorticoid induced transcript 1 GLCCI1 gene on chromosome 7. In asthmatics corticosteroid treatment increases GLCCI1 protein in lung white blood cells. This increase is suggested to be followed by the inflammatory cells apoptosis and resolution of the inflammation. [PMID 28488322] The amount of GLCCI1 protein induced by glucocorticoids was significantly lower in the bronchial epithelial cells of rs37973(G;G) patients as compared to wild type homozygotes possibly resulting in inferior response.[PMID 28488322].

Based on 4 populations totaling 900+ asthma patients, the rs37973(G) allele was associated (p = 0.0007, pooled data) with less improvement of lung function in response to inhaled glucocorticoids such as budesonide. The mean (±SE) increase in forced expiratory volume in 1 second (FEV1) in treated rs37973(G;G) patients was about one third of that seen in rs37973(A;A) patients (3.2±1.6% vs. 9.4±1.1%). Based on dividing the response into highest vs lowest quartiles of response, the allelic odds ratio of falling into the lowest responding quartile based on an additive genetic model was calculated to be 1.52 (CI: 1.13 - 2.03). Genotype accounted for about 7% of overall inhaled glucocorticoid response variability.10.1056/NEJMoa0911353

This result failed to replicate in an analysis of corticosteroid clinical trials in a population of 1,900 non-Hispanic white patients with asthma. rs37973 did not influence change from baseline in forced expiratory volume. There was only a non-significant trend toward less response in rs37973(G;G) patients.[PMID 24131825OA-icon.png]

In a study of 400 Japanese patients with bronchial asthma receiving inhaled corticosteroids, the pulmonary function was not significantly different in rs37973(G;G) compared with rs37973(A;A) genotypes. However, rs37973(G;G) was associated with about 3-fold increased odds of requiring further treatment in addition to inhaled corticosteroids, principally, tiotropium and anti-IgE (omalizumab).[PMID 28488322].

? (A;A) (A;G) (G;G) 28



[PMID 22641026OA-icon.png] Predicting inhaled corticosteroid response in asthma with two associated SNPs.


[PMID 25091946] Admixture of beneficial and unfavourable variants of GLCCI1 and FCER2 in Roma samples can implicate different clinical response to corticosteroids


[PMID 25134782] Rs37972 and rs37973 single-nucleotide polymorphisms in the Glucocorticoid-inducible 1 gene are not associated with asthma risk in a Saudi Arabian population


ClinVar
Risk Rs37973(A;A)
Alt Rs37973(A;A)
Reference Rs37973(G;G)
Significance Drug-response
Disease Glucocorticoid therapy
Variation info
Gene GLCCI1 LOC100505921
CLNDBN Glucocorticoid therapy, response to
Reversed 0
HGVS NC_000007.13:g.8007876G\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000024148.1,