Table 2.
Genotypes distribution of CYP7A1 polymorphisms among subjects
| Genotype distribution | Minor allele freuqencies | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Controls | Proximal colon | Distal colon + Rectum | HapMap-JPT | Controls | Proximal colon | Distal colon + Rectum | HWE p-value in CNT | |||
| Location in choromosome # | Description | |||||||||
| rs11786580 | 59568494 | Intron 4, tag SNP | ||||||||
| CC/CT/TT | 797/160/4 | 71/22/3 | 291/64/2 | 0.091 | 0.087 | 0.146 | 0.095 | 0.18 | ||
| rs3747809 | 59569538 | Intron 4, tag SNP | ||||||||
| AA/AG/GG | 855/100/6 | 88/8/0 | 323/31/3 | 0.058 | 0.058 | 0.042 | 0.052 | 0.11 | ||
| rs2162459 | 59573596 | Intron 1, tagSNP | ||||||||
| GG/GA/AA | 321/465/175 | 34/38/24 | 119/181/57 | 0.375 | 0.424 | 0.448 | 0.413 | 0.77 | ||
| rs3808607 (−204A>C) | 59575415 | 5′ near gene | ||||||||
| GG/GT/TT*2 | 246/492/223 | 27/41/28 | 94/182/81 | 0.430 | 0.488 | 0.505 | 0.482 | 0.45 | ||
| rs3824260 | 59575744 | 5′ near gene, tagSNP | ||||||||
| AA/AG/GG | 245/493/223 | 27/41/28 | 94/181/82 | 0.433 | 0.489 | 0.495 | 0.517 | 0.41 | ||
*1 NA indicates not available.; *2 Genotypes are CC/CA/AA based on −204A>C.