Table 3.
Genetic background for vitamin C deficiency in the human body.
| Gene Symbol, (MIM) Full Name |
Variant | MAF in World Population * | Impact on Vitamin C Level | Study Group | References | |
|---|---|---|---|---|---|---|
| Rs Number (Minor Allele) | Location | |||||
|
SLC23A1 (MIM:603790) solute carrier family 23 member 1 |
rs10063949 (T) | Intron | 42% | Allele C association with an elevated circulating ascorbic acid in BWHHS, but an effect does not appear in a meta-analysis | 15 087 participants from 5 independent studies | [45] |
| No association with higher vitamin C plasma level | 300 subjects (150 POAG cases and 150 controls) from a Mediterranean population | [74] | ||||
| AG and GG genotypes increase the risk of Crohn’s disease | 311 patients from the Manitoba IBD cohort | [46] | ||||
| rs33972313 (T) | Exon (p.V264M) | 4% | Rare allele A associated with a reduction in circulating concentrations of ascorbic acid | 15 087 participants from 5 independent studies | [45] | |
| G allele was associated with 11% higher plasma vitamin C | 97 203 white individuals including 10 123 subjects with ischemic heart disease | [75] | ||||
| GG genotype was associated with a 9% higher plasma vitamin C compared with AA and AG combined | 106 147 individuals from the Copenhagen General Population Study | [76] | ||||
| GA heterozygotes were associated with a 24% lower concentration | 365 cases and 1 284 controls from the EPIC cohort | [77] | ||||
| rs11950646 (A) | Intron | 38% | GG or AG genotypes (compared with AA) were associated with a 13% lower plasma vitamin C concentration | 365 cases and 1 284 controls from the EPIC cohort | [77] | |
|
SLC23A2 (MIM:603791) solute carrier family 23 member 2 |
rs6133175 (G) | Intron | 33% | GG homozygotes associated with 24% higher plasma vitamin C concentrations | 365 cases and 1 284 controls from the EPIC cohort | [77] |
| C allele have a reduced risk of heart disease (implied that it is due to an increased vitamin C transport) | 97 203 white individuals including 10 123 subjects with ischemic heart disease | [75] | ||||
| rs6053005 (T) | Intron | 31% | TT homozygotes associated with 24% higher plasma vitamin C concentrations | 365 cases and 1 284 controls from the EPIC cohort | [77] | |
| rs1279683 (T) | Intron | 45% | GG subjects had a significantly lower plasma vitamin C concentrations than the other genotypes | 300 subjects (150 POAG cases and 150 controls) from a Mediterranean population | [74] | |
|
GSTM1 (MIM:138350) glutathione S-transferase mu 1 |
GSTM1*0 (null) | Whole gene deletion | 47.4% # | Higher vitamin C concentration in plasma | 115 individuals from Slovakia (44 survivors of myocardial infarction, 44 clinically normal controls and 67 population subjects) | [58] |
| 4-fold increased risk of Vit. C deficiency for homozygote GSTM1*0/*0 and 2-fold for carriers of the GSTM1*1 allele | 905 nonsmoking Canadian | [59] | ||||
| A significantly lower level of vitamin C in plasma compared with subjects carrying functional gene. |
388 volunteers from Slovakia | [60] | ||||
|
GSTT1 (MIM:600436) glutathione S-transferase theta 1 |
GSTT1*0 (null) | Whole gene deletion | 25% # | Lower vitamin C concentration in plasma | 115 individuals from Slovakia (44 survivors of myocardial infarction, 44 clinically normal controls and 67 population subjects) | [58] |
| 12-fold increased risk of serum ascorbic acid deficiency for the GSTT1*0/*0 genotype and only 2-fold for carriers of the GSTT1*1 allele | 905 nonsmoking Canadian | [59] | ||||
| Significantly lower level of vitamin C in plasma as compared with subjects carrying functional gene |
388 volunteers from Slovakia | [60] | ||||
|
GSTP1 (MIM:134660) glutathione S-transferase pi 1 |
rs1695 (G) | Exon (p.Ile105Val) | 35% | Heterozygous individuals showed a significantly lower circulating vitamin C levels than homozygous GG | 115 individuals from Slovakia (44 survivors of myocardial infarction, 44 clinically normal controls and 67 population subjects) | [58] |
| No effect on serum ascorbic acid | 905 nonsmoking Canadian | [59] | ||||
| No association with vitamin C in plasma | 388 volunteers from Slovakia | [60] | ||||
* based on 1000 Genomes project data (phase 3); # frequency calculated based on data of Kasthurinaidu et al. [78]; EPIC—European prospective investigation into cancer and nutrition; BWHHS—British women’s heart and health study; POAG—primary open-angle glaucoma.