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. 2009 Mar 24;4(3):e4895. doi: 10.1371/journal.pone.0004895

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
1

rs numbers for SNPs can be found in supplementary table 1.

2

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.