Have questions? Visit https://www.reddit.com/r/SNPedia

rs2241712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) higher risk for COPD
(A;G) higher risk for COPD
(G;G) normal risk
ReferenceGRCh38 38.1/141
Chromosome19
Position41363851
GeneB9D2, TMEM91
is asnp
is mentioned by
dbSNPrs2241712
ebirs2241712
HLIrs2241712
Exacrs2241712
Varsomers2241712
Maprs2241712
PheGenIrs2241712
hapmaprs2241712
1000 genomesrs2241712
hgdprs2241712
ensemblrs2241712
gopubmedrs2241712
geneviewrs2241712
scholarrs2241712
googlers2241712
pharmgkbrs2241712
gwascentralrs2241712
openSNPrs2241712
23andMers2241712
23andMe allrs2241712
SNP Nexus

SNPshotrs2241712
SNPdbers2241712
MSV3drs2241712
GWAS Ctlgrs2241712
GMAF0.3489
Max Magnitude
rs2241712, a SNP in the promoter region of the transforming growth factor beta1 TGFB1 gene has been associated with increased risk for chronic obstructive pulmonary disease (COPD). Although smoking is the main risk factor, smokers with a rs2241712(A) allele (or 2 other TGFB1 SNPs, rs1982073 and rs1800469) were more likely to develop COPD, based on a study of ~700 Caucasian subjects [PMID 15175276]

[PMID 19096005OA-icon.png] asthma rs2241712(A) and rs1800469(C) associated with increased airway responsiveness

[PMID 22053598] Association of TGF-beta1, IL-4 and IL-13 gene polymerphisms with asthma in a Chinese population [PMID 16704031] Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans.


[PMID 17686149OA-icon.png] Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery.


[PMID 18670143] The association of transforming growth factor beta 1 gene polymorphisms with the emphysema phenotype of COPD in Japanese.


[PMID 21320324OA-icon.png] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.


[PMID 21556788] Lack of association between the TGF-beta(1) gene and development of COPD in Asians: a case-control study and meta-analysis.

[PMID 23267696OA-icon.png] Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study