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rs7216389

From SNPedia

up to 2.1x asthma risk via the ORMDL3 gene
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 0.69x lower risk of Childhood Asthma.
(C;T) 1.8 Normal risk for Childhood Asthma.
(T;T) 2 1.5x increased risk for Childhood Asthma.
ReferenceGRCh38 38.1/141
Chromosome17
Position39913696
GeneGSDMB
is asnp
is mentioned by
dbSNPrs7216389
ebirs7216389
Exacrs7216389
Maprs7216389
PheGenIrs7216389
hapmaprs7216389
1000 genomesrs7216389
hgdprs7216389
ensemblrs7216389
gopubmedrs7216389
geneviewrs7216389
scholarrs7216389
googlers7216389
pharmgkbrs7216389
gwascentralrs7216389
openSNPrs7216389
23andMers7216389
23andMe allrs7216389
SNP Nexus

SNPshotrs7216389
SNPdbers7216389
MSV3drs7216389
GWAS Ctlgrs7216389
GMAF0.3655
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs7216389, a SNP in the ORMDL3 gene on chromosome 17q21, was associated with susceptibility to childhood asthma in a study of ~1,000 British patients. The variation appears to be linked to altered levels of the ORMDL3 mRNA, which was shown in a cohort study of ~5,000 British and German patients to be correlated to childhood asthma.[PMID 17611496]

A large study of Scottish asthma patients replicated these results, finding that a single copy of the T allele conferred an odds ratio of 1.50 (CI: 1.24-1.81) and 2 copies conferred an odds ratio of 2.11 (CI: 1.71-2.61), respectively.[PMID 18395550]

GWAS
SNP rs7216389
PubMedID [PMID 17611496]
Condition Asthma
Gene Intergenic
Risk Allele T
pValue 9.00E-011
OR 1.45
95% CI 1.17-1.81


[PMID 19029000] Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood.


[PMID 19133921OA-icon.png] Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma

OMIM611403
DescASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
Variant
Relatedalso
[PMID 20372189OA-icon.png] A sequence variant on 17q21 is associated with age at onset and severity of asthma

[PMID 20503266] Allergy and glioma risk: Test of association by genotype


[PMID 21796154] Effects of a 17q21 chromosome gene variant, tobacco smoke and furred pets on infant wheeze


[PMID 18310477OA-icon.png] ORMDL3 gene is associated with asthma in three ethnically diverse populations.


[PMID 18439551OA-icon.png] Genetic architecture of transcript-level variation in humans.


[PMID 19175592] Asthma and atopy are associated with chromosome 17q21 markers in Chinese children.


[PMID 19426955OA-icon.png] Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19714205OA-icon.png] Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children.


[PMID 19732864OA-icon.png] Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.


[PMID 20187971OA-icon.png] Modeling expression quantitative trait loci in data combining ethnic populations.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


[PMID 20698975OA-icon.png] Asthma-susceptibility variants identified using probands in case-control and family-based analyses.


[PMID 21337730] Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR.


[PMID 22472724] Asthma and bronchodilator responsiveness are associated with polymorphic markers of ARG1, CRHR2 and chromosome 17q21.


GET Evidence
rs7216389
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.679688
summary



[PMID 23096927] Single nucleotide polymorphisms in the ORM1-like 3 gene associated with childhood asthma in a Chinese population


[PMID 23157251] Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population


[PMID 22732088] GSDMB/ORMDL3 variants contribute to asthma susceptibility and eosinophil-mediated bronchial hyperresponsiveness.


[PMID 23028483OA-icon.png] Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.


[PMID 25768087OA-icon.png] An ADAM33 Polymorphism Associates with Progression of Preschool Wheeze into Childhood Asthma: A Prospective Case-Control Study with Replication in a Birth Cohort Study


[PMID 26886240] Association Between Gasdermin A and Gasdermin B Polymorphisms and Susceptibility to Adult and Childhood Asthma Among Jordanians.