Table 2.
A table demonstrating further information on the genetic variants investigated in this study. All variants listed here have previously been associated directly with RAS, indirectly with RAS (vitamin D-metabolising system), or with forms of pancreatic disease. Allele frequencies are based on Caucasian data from HapMap and ABI AoD.
| Gene | Gene Symbol | Chrom Location | SNP Name | ID Number | DNA Change | Allele Frequencies | Known Effect |
|---|---|---|---|---|---|---|---|
| Angiotensin Converting Enzyme 1 | ACE | 17q23.3 | I/D | rs4646994 | ---------------- | 0.54D:0.46I | D Allele: Higher Levels of Tissue & Circulating ACE56 |
| Angiotensin II Receptor Type 1 | ATR1 | 3q24 | A1166C | rs5186 | A>C | 0.75A/0.25C | C Allele: Increased Receptor Activity57,58 |
| Angiotensin II Receptor Type 2 | ATR2 | Xq23 | 1675 | rs1403543 | G>A | 0.61A:0.39G | G Allele: Increased Receptor Expression57 |
| Angiotensinogen | AGT | 1q42.2 | M235T | rs699 | C>T | 0.62T:0.38C | T Allele: Higher Levels of AGT, Low Prorenin, Susceptibility to DM59 |
| Renin | REN | 1q32 | ---------------- | rs5707 | G>T | T0.87:G0.13 | G Allele: Increased Levels of Renin60 |
| Vitamin D Receptor | VDR | 12q13.11 | FokI | rs2228570 | C>T | 0.56C:0.44T | T Allele: Increased Suceptibility to DM61 |
| Vitamin D Hydoroxylase | CYP2R1 | 11p15.2 | CYP2R1 | rs10741657 | A>G | 0.63G/0.37A | G Allele: Increased Susceptibility to DM62 |
| Vitamin D Binding Protein | GC | 4q12 | ---------------- | rs7041 | G>T | 0.58G:0.43T | 1S & 1S-2: Increased Levels of Circulating Vitamin D Levels63,64 |
SNP- Single Nucleotide Polymorphism; Chrom- Chromosome; DM- Diabetes Mellitus