rs8110090

This is a regulatory region variant variant in the TGFB1 gene.

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Research that mentions this SNP (2)

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Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis
AssociationN=3,293Xie G. et al.(2013)· Arthritis & Rheumatism

This genome-wide association study identified genetic determinants of granulomatosis with polyangiitis (GPA/Wegener's) in 987 cases and 2,731 controls. HLA-DPB1*04 and HLA-DPA1 variants accounted for 32 significant SNP associations in the HLA region, with peak signals at rs9277554 (HLA-DPB1) and rs9277341 (HLA-DPA1). An independent association was found at rs26595 near SEMA6A on chromosome 5, confirming the critical role of immunogenetic factors in GPA susceptibility.

Traits studied:ANCA-associated vasculitisEosinophilic granulomatosis with polyangiitisGranulomatosis with Polyangiitis (GPA)Microscopic polyangiitisWegener's granulomatosis
PubMedDOIMetascience Observatory
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Association of TGFβ1 and clinical factors with scar outcome following melanoma excision
AssociationN=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.

Traits studied:Scar heightScar outcome following melanoma excisionScar vascularityWound healing
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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