TABLE 1.
PREVIOUS FUNCTIONAL STUDIES OF POLYMORPHISMS IN TGFB1
| SNP | Alternative SNP Identification | Location | Allele | Function | Assay Performed | Study (Reference No.) |
|---|---|---|---|---|---|---|
| rs1800469 | −509C-T | Promoter | T | Increased serum level | Correlation of genotype with serum protein levels | Grainger, 1999 (12) |
| rs1800469 | −509C-T | Promoter | T | Increased transcription | EMSA, reporter construct and transient transfection in A549 human lung carcinoma cells and/or bronchial epithelial cells | Silverman, 2004 (13) |
| rs1800469 | −509C-T | Promoter | C | Increases serum concentration and hepatocyte transcription | Correlation of genotype with serum protein levels and reporter-gene constructs | Wang, 2008 (14) |
| rs1982073 | +869T-C | Exon | T | Increased serum concentration | Correlation of genotype with serum protein levels | Wang, 2008 (14) |
| rs1982073 | +869T-C | Exon | C | Increased secretion in HeLa cells | Cell culture and transfection of HeLa cells | Dunning, 2003 (15) |
| rs1982073 | +869T-C | Exon | T | Increased serum level | Correlation of genotype with serum protein levels | Hinke, 2001 (16) |
| rs1982073 | +869T-C | Exon | No correlation with level | Correlation of genotype with serum protein levels | Li, 2008 (17) | |
| rs1982973 | +869T-C | Exon | C | Increased serum level | Correlation of genotype with serum protein levels | Yokota, 2000 (18) |
| rs1800471 | +915G-C | Exon | G | Increased expression in lymphocytes | Cell culture and ELISA: correlation of genotype with levels in stimulated leukocytes | Awad, 1998 (19) |