Table 5 Genotype and allele frequencies of 4644T>A, 5035T>C and 5098T>G SNPs in UC cases stratified by phenotypic subgroups, (n)
SNP/gene | ss104807147 4644T>A | ss104807141 5035T>C | ss104807139 5098T>G | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
genotype | TT (61) | TA (19) | AA (15) | Total (95) | Freq(A) 0.257 | TT (74) | TC (12) | CC (9) | Total (95) | Freq(C) 0.157 | TT (55) | TG (19) | GG (21) | Total (95) | Freq(G) 0.321 |
Sex | |||||||||||||||
Male | 40 | 16 | 11 | 67 | 0.283 | 52 | 10 | 5 | 67 | 0.149 | 35 | 15 | 17 | 67 | 0.365 |
Female | 21 | 3 | 4 | 28 | 0.196 | 22 | 2 | 4 | 28 | 0.178 | 20 | 4 | 4 | 28 | 0.214 |
Age at diagnosis (yr) | |||||||||||||||
15-40 | 41 | 15 | 10 | 66 | 0.265 | 50 | 9 | 7 | 66 | 0.174 | 38 | 12 | 16 | 66 | 0.333 |
> 40 | 20 | 4 | 5 | 29 | 0.241 | 24 | 3 | 2 | 29 | 0.121 | 17 | 7 | 5 | 29 | 0.293 |
Disease activity | |||||||||||||||
Remission | 13 | 3 | 2 | 18 | 0.194 | 13 | 3 | 2 | 18 | 0.194 | 13 | 2 | 3 | 18 | 0.222 |
Mild | 25 | 9 | 6 | 40 | 0.262 | 33 | 3 | 4 | 40 | 0.138 | 22 | 10 | 8 | 40 | 0.325 |
Moderate | 18 | 6 | 4 | 28 | 0.25 | 23 | 3 | 2 | 28 | 0.125 | 14 | 6 | 8 | 28 | 0.393 |
Severe | 5 | 1 | 3 | 9 | 0.389 | 5 | 3 | 1 | 9 | 0.278 | 6 | 1 | 2 | 9 | 0.278 |
Disease extent | |||||||||||||||
Rectum | 17 | 9 | 7 | 33 | 0.348 | 32 | 1 | 0 | 33 | 0.015 | 21 | 7 | 5 | 33 | 0.258 |
Left colon | 18 | 4 | 6 | 28 | 0.286 | 19 | 4 | 5 | 28 | 0.25 | 16 | 6 | 6 | 28 | 0.321 |
Pancolitis | 26 | 6 | 2 | 34 | 0.147 | 23 | 7 | 4 | 34 | 0.221 | 18 | 6 | 10 | 34 | 0.382 |
Smoking history | |||||||||||||||
Yes | 4 | 4 | 0 | 8 | 0.25 | 6 | 0 | 2 | 8 | 0.25 | 5 | 2 | 1 | 8 | 0.25 |
No | 54 | 13 | 15 | 82 | 0.262 | 63 | 12 | 7 | 82 | 0.159 | 46 | 17 | 19 | 82 | 0.335 |
Ex | 3 | 2 | 0 | 5 | 0.2 | 5 | 0 | 0 | 5 | 0 | 4 | 0 | 1 | 5 | 0.2 |
Appendectomy | |||||||||||||||
Yes | 2 | 1 | 1 | 4 | 0.375 | 4 | 0 | 0 | 4 | 0 | 2 | 1 | 1 | 4 | 0.375 |
No | 59 | 18 | 14 | 91 | 0.252 | 70 | 12 | 9 | 91 | 0.165 | 53 | 18 | 20 | 91 | 0.319 |