Skip to main content

Table 4 An exhaustive list of Gene polymorphism studies that have reported to affects the plasma level of homocysteine

From: Mining literature for a comprehensive pathway analysis: A case study for retrieval of homocysteine related genes for genetic and epigenetic studies

S.NO Gene Symbol Polymorphism Amino Acid Consequences
     Homocysteine Level Gene expression /Enzyme Activity
1 MTHFR C677T
A1298C
A1793G
A222V
E429 A
R594Q


↑*
↓ [140]

N.R
2 CBS 31 bp VNTR (exon 13-intron 13)
G919A
844Ins68 (Exon 8)
T833C
-----
G307S
-----
L278 T
↑**[141–142]
↑ [143–144]
↓ [121]
↑ [120]

? [120]
↑ (P) [145]
? [120]
3 MTR A2756G D919G ↓ [121] N.R
4 MTRR A66G I22M ↑ [145] N.R
5 MAT G791A R264H NE [146] ↓ [147]
6 TYMS A 28-bp repeat (Enhancer region)
A 6-bp deletion (3'UTR)
--------
-----
↑ [124,125]
↓ (del/del) [148]
Alteration in transcription level[120]
↓ [149]
7 CTH G1346T S403I ↑ [126] N.R
8 GCP II/Folh1 C1561T H475Y ↑ [127,128] ↓ [128]
9 RFC-1 G80A R26H NE [129] N.R
10 eNOS G894T
T786C (Promoter)
CA Repeats (Intron 13)
E298D
---------
---------
↑ [150]
↑ [152]
↑ (In female) [154]
N.E [151]
↓ [153]
N.R
11 TC II C776G
A67G
P259R
I23V
↑ [130]
↓ [130]
↓ [155]
12 APO E Epsilon4 alleles -------- ↑ [156] N.R
13 PAI-1 4G Ins/del (Promoter) -------- ↑ [157] Affects the response of the PAI-1 promoter to cytokines [158]
14 F2 G20210A (3'UTR) -------- ↑ [159] ↑ [160]
15 Factor V G1691A R506Q ↑ [159] Impairs APC mediated inactivation of factor Va [161]
  1. N.R Not reported in the literature
  2. N .E No Effect was observed.
  3. * Border line association was observed in the presence of high folate concentration.
  4. ** After post methionine load
  5. (P) Presence of low concentration of pyridoxal -5-phosphate.