Table 2 Polymorphisms detected in genes involved in homocysteine metabolism

Methylene-tetrahydrofolate reductase (MTHFR)

677C- > T

A226V

Endometrial carcinoma

1.10

¹⁵⁵

Esophageal squamous cell carcinoma (SCC)

1.47

¹⁵⁶

Breast cancer

1.00^a/1.12/1.00^a

^{15, 99, 157}

Acute lymphocytic leukemia (ALL)

0.99/0.23

⁸⁷

Prostate cancer

0.78

¹⁵⁸

Colorectal cancer

1.78/1.00^a/0.76

^{85, 159,160,161}

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

1.00^a

^{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

1.00^a

¹⁷⁴

Breast cancer

1.00^a

⁹⁹

Squamous cell carcinoma

1.00^a

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