rs8179181
This is a intron variant variant in the TGFB1 gene.
▶ClinVar annotation
not specified; not provided; Diaphyseal dysplasia; Inflammatory bowel disease, immunodeficiency, and encephalopathy; Cystic fibrosis;Inflammatory bowel disease, immunodeficiency, and encephalopathy;Diaphyseal dysplasia
View on ClinVar →▶Research that mentions this SNP (2)
▶Association of TGFβ1 and clinical factors with scar outcome following melanoma excisionAssociationN=202Ward SV et al.(2012)· Archives of Dermatological Research
Genetic association study of 202 melanoma patients examining SNPs in 24 candidate genes related to pigmentation and wound healing in relation to scar outcome. SNP rs8110090 in TGFβ1 was significantly associated with poorer scar outcomes (p=0.0002). Clinical factors including younger age, shorter time since surgery, and presence of infection or eczema were also associated with worse scarring.
▶Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopyAssociationN=546Huiling Li et al.(2007)· Human Genetics
A case-parent triad study of 546 asthmatic children and their parents in Mexico City found that three TGFB1 SNPs (C-509T/rs1800469, T869C/rs1982073, and rs7258445) were significantly associated with increased asthma risk and atopy. The C-509T T allele showed RR=1.42 (95% CI 1.08-1.87) for one copy and RR=1.95 (1.36-2.78) for two copies; similar effects were found for T869C and rs7258445. The haplotype containing all three risk alleles conferred RR=1.48 (1.11-1.95) for one copy and RR=1.77 (1.22-2.57) for two copies of asthma risk.
About TGFB1
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
View all TGFB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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