Table 2. Vitamin D pathway gene-based global, trend, and haplowalk minimum p-values for associations with renal cancer risk.
| Target Gene Name (Alias) | Target Gene Function | Chromosome Location | Number of Tag SNPs | Adjusted Min-P Test | *Minimum Adjusted p-trend | †Haplowalk |
| VDR: Vitamin D 1,25 dihydroxyvitamin D3 Receptor (NR111) | Encodes the nuclear hormone receptor for vitamin D3 and is principally involved in mineral metabolism through the receptor; regulates variety of other metabolic pathways. | 12q13.11 | 29 | 0.024 | 0.002 | 0.045 |
| RXRA: Retinoid X Receptor, alpha (FLJ16020, FLJ16733, MGC102720, NR2B1) | Mediates the biological effects of retinoids; as homo- or heterodimers, binds to the vitamin D receptor gene and regulates transcription. | 9q34.3 | 18 | 0.100 | 0.011 | 0.007 |
| STAT1: Signal Transducer and activator of Transcription 1, 91kDa (DKFZp686B04100, ISGF-3, STAT91) | Phosphorylated by receptor associated kinases; protein forms homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. | 2q32.2 | 21 | 0.138 | 0.022 | 0.085 |
| RXRB: Retinoid X Receptor, beta (DAQB-314F24.5, DAUDI6, H-2RIIBP, MGC1831, NR2B2, RCoR-1) | Forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing binding and transcription on response elements. | 6p21.3 | 8 | 0.202 | 0.093 | 0.262 |
| GC: Group-Specific Component Vitamin D Binding Protein (DBP) | Binds vitamin D and its plasma metabolites, transporting them to target tissues. | 4q12–q13 | 11 | 0.246 | 0.037 | 0.090 |
| THRAP5: Thyroid Hormone Receptor Associated Protein 5 (DRIP92, MED16, TRAP95) | Selectively interacts with vitamin D receptors, mediating the action of vitamin D by binding and controlling the transcription of hormone-sensitive genes. | 19p13.3 | 11 | 0.384 | 0.113 | 0.192 |
| CYP24A1: Cytochrome P450, Family 2, Subfamily A, Polypeptide 1 (CP24, CYP24, MGC126273, MGC126274, P450-CC24) | Initiates degradation of 1,25-dihydroxyvitamin D3; regulates levels of vitamin D3; plays a role in calcium homeostasis and vitamin D endocrine system. | 20q13 | 35 | 0.630 | 0.035 | 0.729 |
| THRAP4: Thyroid Hormone Receptor Associated Protein 4 (ARC100, CRSP100, CRSP4, DRIP100, KIAA0130, MGC8748, MED24, TRAP100) | Induces gene expression and selectively interacts with vitamin D receptors mediating the action of vitamin D by binding and controlling the transcription of hormone-sensitive genes. | 17q21.1 | 6 | 0.936 | 0.580 | 0.927 |
*
Adjusted minimum p-value for all tagging SNPs in a targeted gene using additive model.
†
Minimum FDR adjusted p-value for 3- SNP haplowalk sliding window analysis.
*†
Adjusted for age, sex, study center, and smoking status (ever, never).