Table 2.
Polymorphisms detected in genes involved in homocysteine metabolism
| Gene | Polymorphisms | Amino acid change | Cancer type | OR values | References |
|---|---|---|---|---|---|
| Methylene-tetrahydrofolate reductase (MTHFR) | 677C- > T | A226V | Endometrial carcinoma | 1.10 | 155 |
| Esophageal squamous cell carcinoma (SCC) | 1.47 | 156 | |||
| Breast cancer | 1.00a/1.12/1.00a | 15, 99, 157 | |||
| Acute lymphocytic leukemia (ALL) | 0.99/0.23 | 87 | |||
| Prostate cancer | 0.78 | 158 | |||
| Colorectal cancer | 1.78/1.00a/0.76 | 85, 159– 161 | |||
| 1298A- > C | E443A | Prostate cancer | 0.58 | 79 | |
| Acute myeloid leukemia | 0.33/1.00 | 87, 162 | |||
| Endometrial cancer | 0.88 | 155 | |||
| 1793G- > A | R1793E | Colorectal cancer | 0.17 | 163 | |
| Acute myeloid leukemia | 1.00 | 162 | |||
| Methionine synthase reductase (MTRR) | 66A- > G | I22M | Leukemia | 1.00a | 164, 165 |
| Colorectal cancer | 2.77/1.07 | 18, 165, 166 | |||
| Gastric cancer | 0.74/1.39 | 167, 168 | |||
| Breast cancer | 4.45 | 169 | |||
| Methionine synthase (MTR) | 2756A- > G | D919G | Head and neck carcinoma | 1.10 | 170 |
| Colorectal cancer | 1.03/0.65/2.04 | 161, 170, 171 | |||
| Lung cancer | 1.34 | 172 | |||
| Hepatocellular carcinoma | 1.01 | 170, 173 | |||
| Cervical cancer | 0.27 | 14 | |||
| Glioblastoma multiforme | 1.00a | 174 | |||
| Breast cancer | 1.00a | 99 | |||
| Squamous cell carcinoma | 1.00a | 98 | |||
| Gastric cancer | 1.06/1.35 | 168, 170, 175 | |||
| Pancreatic cancer | 1.08/3.35 | 170, 176 | |||
| Methylene-tetrahydrofolate dehydrogenase (MTHFD1) | 1958G- > A | A653G | Gastric cancer | 2.05 | 102 |
| Leukemia | 0.80 | 177 | |||
| 401G- > A | R134K | Gastric cancer | 1.43 | 102 | |
| Leukemia | 0.89 | 177 | |||
| Ovarian cancer | 0.97 | 178 | |||
| Betaine-homocysteine methyltransferase (BHMT) | 742G- > A | R239Q | Squamous cell carcinoma | 1.07 | 179 |
| Breast cancer | 0.98/0.12 | 111, 180 | |||
| Uterine carcinoma | 0.64 | 181 | |||
| Ovarian cancer | 1.01 | 182 | |||
| Colorectal adenoma | 1.09 | 183 | |||
| Liver cancer | 0.98 | 184 | |||
| 595G- > A | G199S | — | |||
| 716G- > A | Q239R | — | |||
| 1218G- > T | Q406H | — | |||
| Cystathionine β-synthase (CBS) | 833T- > C | I278T | — | ||
| 699C- > T | Y233Y | — | |||
| 1080C- > T | A360A | — | |||
| 572C- > T | T191M | — | |||
| 139C- > T | S466L | — | |||
| 502G- > A | V168M | — | |||
| 797G- > A | R266K | — | |||
| 1150A- > G | K384E | — | |||
| 341C- > T | A114V | — | |||
| 919G- > A | G307S | — | |||
| TCN 2 | 776 G > C | R259P | Colorectal adenoma | 0.753 | 183 |
| Colorectal cancer | 1.137 | 185 | |||
| Glioblastoma | 1.028 | 174 | |||
| Primary central nervous system lymphoma | 1.338 | 186 | |||
| Ovarian cancer | 1.389 | 182 | |||
| TYMS | TS 3́-UTR | — | Esophageal cancer | 0.73 | 187 |
| — | Stomach cancer | 1.12 | 187 | ||
| TSER | — | Breast cancer | 1.09 | 187 |
aPapers that reported no association have been given the value of 1.00