Table 4 An exhaustive list of Gene polymorphism studies that have reported to affects the plasma level of homocysteine
S.NO | Gene Symbol | Polymorphism | Amino Acid | Consequences | |
|---|---|---|---|---|---|
| Â | Â | Â | Â | 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] |