From SNPedia
rs1800471 encodes a change at codon 25 of the
TGFB1 gene. It is reported to predispose several organs to fibrosis, and in relation to
Crohn's disease, it was associated with stricturing Crohn's disease (odds ratio 2.63, CI: 1.16-5.88, p=0.01) and a shorter time to intestinal resection (p = 0.06) in a study of several hundred Australian patients.[
PMID 17047091]
[PMID 19258388] Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy.
[PMID 19380441] Single Nucleotide Polymorphism at rs1982073:T869C of the TGF{beta}1 Gene Is Associated With the Risk of Radiation Pneumonitis in Patients With Non-Small-Cell Lung Cancer Treated With Definitive Radiotherapy
| PharmGKB | PA161145114 |
| Name | TGFB1:Arg25Pro, TGFB1:914G>C, TGFB1:Ex1-282G>C, TGFB1:G915C, TGFB1:GC915 |
| Annotation | In conjunction with polymorphism at codon 10, this SNP defines high-, medium- or low-producer haplotype. The Arg allele is associated with higher blood pressure. The C allele is associated with susceptibility to EBV-associated post-transplant lymphoproliferative disorder. The C allele is associated with susceptibility to chronic periodontitis; The G allele may be associated with brucellosis susceptibility. This SNP may play a role in liver graft acceptance. It may be associated with longevity in an Italian population, and it may be associated with clefts of the lip, alveolus and palate. |
| Gene | TGFB1 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:12850397; PubMed ID:15212689; PubMed ID:15569360; PubMed ID:17157217; PubMed ID:17184296; PubMed ID:17700165 |
| Drugs | |
| Diseases | Brucellosis, Cleft Lip, Cleft Palate, Graft vs Host Disease, Hypertension, Periodontitis |
| Curation Level | Curated |
