From SNPedia
| up to 2.1x asthma risk via the ORMDL3 gene |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal
|
| (C;T)
|
|
1.5x increased risk for asthma
|
| (T;T)
|
|
2.1x increased risk for asthma
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
, 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 19133921] Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma
| OMIM | 611403 |
| Desc | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 |
| Variant | |
| Related | also |
| PharmGKB | PA162356668 |
| Name | |
| Annotation | GWAS Results: Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma (Initial Sample Size: 994 cases, 1,243 controls; Replication Sample Size: 2,320 cases, 3,301 controls; Risk Allele: rs7216389-T). |
| Gene | GSDMB |
| Featue | |
| Evidence | PubMed ID:17611496; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Asthma |
| Curation Level | Non-Curated |
[PMID 20372189] 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
