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rs2305480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) normal
(C;T) 2 3.5x increase in risk of asthma for Han Chinese
(T;T) 2 if 4 years old or younger, ~3x increased asthma risk if exposed to smoke
ReferenceGRCh38 38.1/141
Chromosome17
Position39905943
GeneGSDMB
is asnp
is mentioned by
dbSNPrs2305480
ebirs2305480
HLIrs2305480
Exacrs2305480
Varsomers2305480
Maprs2305480
PheGenIrs2305480
hapmaprs2305480
1000 genomesrs2305480
hgdprs2305480
ensemblrs2305480
gopubmedrs2305480
geneviewrs2305480
scholarrs2305480
googlers2305480
pharmgkbrs2305480
gwascentralrs2305480
openSNPrs2305480
23andMers2305480
23andMe allrs2305480
SNP Nexus

SNPshotrs2305480
SNPdbers2305480
MSV3drs2305480
GWAS Ctlgrs2305480
GMAF0.3283
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs2305480 is one of several SNPs from a region on chromosome 17q21 that has been linked to risk for asthma.

A total of 651 French patients with asthma, from among 1,621 subjects in 388 families, were analyzed for SNPs in the (17q21) region. An association was found between this SNP and early-onset asthma (but not with later onset asthma) which was significant after correction at p < 0.001. Upon further study, this association was seen primarily only in children exposed to tobacco smoke. The odds ratio was 2.77, based on the most likely assumption that this risk is associated only with the recessive homozygous state (and not the heterozygous state, which is still possible). [PMID 18923164OA-icon.png]


GWAS snp
PMID [PMID 20228799OA-icon.png]
Trait Ulcerative colitis
Title Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Risk Allele A
P-val 3E-8
Odds Ratio 1.15 [NR]
GWAS snp
PMID [PMID 20860503OA-icon.png]
Trait
Title A large-scale, consortium-based genomewide association study of asthma
Risk Allele G
P-val 1E-7
Odds Ratio 1.18 [1.11-1.23]
OMIM611403
Desc
Variant
Relatedalso
OMIM612380
Desc
Variant
Relatedalso


[PMID 22469062] Interaction of a 17q12 variant with both fetal and infant smoke exposure in the development of childhood asthma-like symptoms: Epidemiology and Genetics


[PMID 22370936OA-icon.png] Genetic variants on 17q21 are associated with asthma in a Han Chinese population


[PMID 19458352OA-icon.png] Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.


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


[PMID 21304977OA-icon.png] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.


[PMID 21506939] Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.


GET Evidence
GSDMB-P311S
aa_change Pro311Ser
aa_change_short P311S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23154084OA-icon.png] Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes


[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.

GWAS snp
PMID [PMID 24241537]
Trait Asthma (childhood, severe)
Title A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
Risk Allele G
P-val 6E-23
Odds Ratio 1.32 [1.23-1.39]


[PMID 26493291] Polymorphisms of RAD50, IL33 and IL1RL1 are associated with atopic asthma in Chinese population


[PMID 27163155] Polymorphisms and Haplotypes of the Chromosome Locus 17q12-17q21.1 Contribute to Adult Asthma Susceptibility in Slovenian Patients.