{{Rsnum
|rsid=7216389
|Gene=GSDMB
|Chromosome=17
|position=39913696
|Orientation=plus
|GMAF=0.3655
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=up to 2.1x asthma risk via the ORMDL3 gene
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=GSDMB
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 23.9 | 54.9 | 21.2
| HCB | 10.2 | 46.7 | 43.1
| JPT | 8.0 | 40.7 | 51.3
| YRI | 2.0 | 20.4 | 77.6
| ASW | 8.8 | 42.1 | 49.1
| CHB | 10.2 | 46.7 | 43.1
| CHD | 7.3 | 38.5 | 54.1
| GIH | 16.8 | 45.5 | 37.6
| LWK | 1.8 | 20.9 | 77.3
| MEX | 17.2 | 44.8 | 37.9
| MKK | 2.6 | 29.5 | 67.9
| TSI | 20.6 | 54.9 | 24.5
| HapMapRevision=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 Summary
|SNP=rs7216389
|PubMedID=17611496
|Condition=Asthma
|Gene=Intergenic
|Risk Allele=T
|pValue=9.00E-011
|OR=1.45
|95CI=1.17-1.81
}}
{{PMID Auto
|PMID=19029000
|Title=Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood.
}}

{{PMID Auto
|PMID=19133921
|Title=Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma
|OA=1
}}

{{omim
|desc=ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
|id=611403
|rsnum=7216389
}}

{{PharmGKB
|RSID=rs7216389
|Name_s=
|Gene_s=GSDMB
|Feature=
|Evidence=PubMed ID:17611496; Web Resource:http://www.genome.gov/gwastudies/
|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).
|Drugs=
|Drug Classes=
|Diseases=Asthma
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356668
}}

{{PMID Auto
|PMID=20372189
|Title=A sequence variant on 17q21 is associated with age at onset and severity of asthma
|OA=1
}}
{{PMID Auto
|PMID=20503266
|Title=Allergy and glioma risk: Test of association by genotype
}}

{{PMID Auto
|PMID=21796154
|Title=Effects of a 17q21 chromosome gene variant, tobacco smoke and furred pets on infant wheeze
}}

{{PMID Auto
|PMID=18310477
|Title=ORMDL3 gene is associated with asthma in three ethnically diverse populations.
|OA=1
}}

{{PMID Auto
|PMID=18439551
|Title=Genetic architecture of transcript-level variation in humans.
|OA=1
}}

{{PMID Auto
|PMID=19175592
|Title=Asthma and atopy are associated with chromosome 17q21 markers in Chinese children.
}}

{{PMID Auto
|PMID=19426955
|Title=Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19714205
|Title=Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children.
|OA=1
}}

{{PMID Auto
|PMID=19732864
|Title=Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
|OA=1
}}

{{PMID Auto
|PMID=20187971
|Title=Modeling expression quantitative trait loci in data combining ethnic populations.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=20698975
|Title=Asthma-susceptibility variants identified using probands in case-control and family-based analyses.
|OA=1
}}

{{PMID Auto
|PMID=21337730
|Title=Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR.
}}

{{PMID Auto
|PMID=22472724
|Title=Asthma and bronchodilator responsiveness are associated with polymorphic markers of ARG1, CRHR2 and chromosome 17q21.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7216389
|overall_frequency_n=87
|overall_frequency_d=128
|overall_frequency=0.679688
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=77
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23096927
|Title=Single  nucleotide polymorphisms in the ORM1-like 3 gene associated with childhood  asthma in a Chinese population
}}

{{PMID Auto
|PMID=23157251
|Title=Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population
}}

{{PMID Auto
|PMID=22732088
|Title=GSDMB/ORMDL3 variants contribute to asthma susceptibility and eosinophil-mediated bronchial hyperresponsiveness.
}}

{{PMID Auto
|PMID=23028483
|Title=Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}