Table 1. Description of selected genes and tagging SNPs.
Name of Gene | Function | Chromosome Location | Number of tagSNPs1/tagSNPs p<0.052 | Adjusted min P test |
Growth and Differentiation Genes | ||||
AKR1C3 - Aldo-keto Reductase Family 1, Member C3 | Catalyzes the reduction of prostaglandin (PGD). Role in cell differentiation by diverting conversion of PGD from PGJ2 to PGF2. | 10p15-p14 | 17/1 | 0.57 |
EGFR -Epidermal Growth Factor Receptor | A transmembrane growth factor receptor. EGFR binding leads to the activation of major signal transduction pathways involved in regulating cell proliferation, differentiation, migration and survival. | 7p12 | 65/12* | 0.48 |
EGF - Epidermal Growth Factor | EGF is a mitogenic factor and an important ligand for EGFR. Subsequently has a major effect on cell differentiation. | 4q25 | 16/0 | 0.90 |
IGFBP3 - Insulin-like Growth Factor Binding Protein 3 | Main carrier of circulating IGFs. Independently, has a key role in regulating cell proliferation and apoptosis. | 7p13-p12 | 14/3* | 0.23 |
IGFBP5 - Insulin-like Growth Factor Binding Protein 5 | Another carrier for IGF. Role in regulating cell survival, differentiation, and apoptosis. | 2q33-q36 | 17/1 | 0.34 |
PPARG- Peroxisome Proliferator-activated Receptor Gamma | A nuclear hormone receptor. When dimerizes with retinoid X receptor, regulates transcription of numerous genes. Also a regulator of adipocyte differentiation | 3p25 | 26/1 | 0.66 |
TGFA -Transforming Growth Factor, alpha | Growth factor that competes with EGF in binding to EGFR | 2p13 | 39/1 | 0.76 |
VCAM1 - Vascular Cell Adhesion Molecule 1 | Member of the immunoglobulin family and encodes a cell surface glycoprotein expressed by cytokine-activated endothelial cells | 1p32-p31 | 14/1 | 0.41 |
VEGF - Vascular Endothelial Growth Factor A | Important growth factor in angiogenesis and tumor growth | 6p12 | 21/1 | 0.78 |
Apoptosis Genes | ||||
CASP1/5/4/12 | A member of the cysteine-aspartic acid protease (caspase) family which plays an integral role in a complex cascade of events that regulate cell apoptosis | 11q22.2-22.3 | 24/5* | 0.26 |
CASP2 | Member of the caspase family | 7q34-q35 | 6/0 | 0.90 |
CASP3 | Member of the caspase family | 4q34 | 10/0 | 0.83 |
CASP6 | Member of the caspase family | 4q25 | 7/0 | 0.77 |
CASP7 | Member of the caspase family | 10q25 | 16/0 | 0.85 |
CASP8/10 | Member of the caspase family | 2q33-q34 | 12/0 | 0.85 |
CASP9 | Member of the caspase family | 1p36.3-p36.1 | 7/0 | 0.96 |
CASP14 | Member of the caspase family | 19p13 | 8/1 | 0.25 |
rs numbers for SNPs can be found in supplementary table 1.
TagSNPs with p-value for trend <0.05.
indicates genes where number of tagSNPs with p-value for trend <0.05 is more than one would expect to see by chance.