The Essential Role of Vitamin C
Vitamin C, also known as ascorbic acid, is a water-soluble vitamin that plays a crucial role in several bodily functions. Unlike many animals, humans cannot produce vitamin C and must obtain it through diet or supplements. It is involved in many important biological processes, including:
- Antioxidant Protection: Vitamin C is a powerful antioxidant that helps neutralize harmful free radicals, reducing oxidative stress and protecting cells from damage.
- Immune System Support: It enhances the function of immune cells, helping the body fight off infections, including the common cold.
- Collagen Production: Vitamin C is necessary for the synthesis of collagen, a key structural protein in the skin, joints, and blood vessels.
- Carnitine Synthesis: It plays a role in the production of carnitine, a compound that helps transport fatty acids into mitochondria for energy production.
- Catecholamine Production: Vitamin C is involved in the synthesis of catecholamines, including dopamine, norepinephrine, and epinephrine, which regulate stress responses and brain function.
- Iron Absorption: It enhances the absorption of non-heme iron from plant-based foods, preventing iron deficiency anemia.
Sources of Vitamin C
Vitamin C is naturally found in many fruits and vegetables, including:
- Citrus fruits (oranges, lemons, grapefruits)
- Berries (strawberries, blueberries, blackberries)
- Kiwi
- Bell peppers
- Tomatoes
- Leafy greens (kale, spinach)
- Broccoli and Brussels sprouts
How Vitamin C is Absorbed
Vitamin C is absorbed in the small intestine via active transport using sodium-dependent vitamin C transporters (SVCT1 and SVCT2). Once in the bloodstream, it is distributed to tissues where it exerts its biological functions. These include supporting enzymatic reactions, aiding in immune defense, facilitating wound healing, and acting as a cofactor in biochemical pathways essential for collagen formation, neurotransmitter synthesis, and fatty acid metabolism. The kidneys regulate its levels by excreting excess vitamin C in urine to prevent toxicity.
Genetic Influence on Vitamin C Levels
Certain genetic variants can influence how efficiently vitamin C is transported and maintained in the body. The SLC23A1 and SLC23A2 genes encode vitamin C transporters that play a role in absorption and distribution.
The rs33972313 SNP and Its Impact on Vitamin C Levels
One significant genetic variant associated with circulating vitamin C levels is rs33972313 in the SLC23A1 gene. This single nucleotide polymorphism (SNP) affects the efficiency of vitamin C transport:
- Heterozygous individuals (one altered copy) may have moderately lower vitamin C levels.
- Homozygous individuals (two altered copies) tend to have significantly reduced circulating vitamin C levels and may be more prone to deficiency.
Research has shown that populations with this SNP exhibit varying vitamin C concentrations, influencing their overall antioxidant capacity and risk of deficiency-related conditions.
As seen in the results below, not all genes are created equal when it comes to vitamin C and collagen production. Some individuals have a genetic advantage, while others may need to adjust their diet and supplementation to support collagen synthesis or ensure sufficient vitamin C intake—perhaps with an extra squeeze of oranges!

Vitamin C and the COL1A1 Gene
The COL1A1 gene encodes type I collagen, which is a major structural component of connective tissues, including skin, bones, tendons, and blood vessels. Since vitamin C is essential for collagen synthesis, genetic variations in COL1A1 can influence how efficiently collagen is produced and maintained.
Possible SNP Effects in COL1A1
Certain COL1A1 polymorphisms, such as rs1107946 and rs1800012, have been associated with reduced collagen strength and increased risk of:
- Osteoporosis (weakened bones leading to fractures)
- Joint pain and ligament injuries
- Poor wound healing
- Skin aging and decreased elasticity
How to Mitigate Risks Related to COL1A1 and Vitamin C
Individuals with genetic variations in COL1A1 can take steps to support collagen production and reduce associated risks:
- Ensure adequate Vitamin C intake through diet or supplementation to optimize collagen synthesis.
- Consume collagen-rich foods such as bone broth, fish, and lean meats.
- Incorporate protein and amino acids (glycine, proline, lysine) to support collagen formation.
- Engage in strength training and weight-bearing exercises to improve bone density.
- Monitor bone health with regular check-ups, especially for those at risk of osteoporosis.
Symptoms of Vitamin C Deficiency
A deficiency in vitamin C can lead to several health issues, including:
- Fatigue and Weakness
- Frequent Infections (due to impaired immunity)
- Slow Wound Healing (due to reduced collagen synthesis)
- Bleeding Gums and Easy Bruising (weakened blood vessels)
- Scurvy (a severe deficiency condition causing joint pain, swollen gums, and anemia)
What to Do About a Vitamin C Deficiency
If someone is experiencing symptoms of vitamin C deficiency or has a genetic variant affecting vitamin C levels, they can take the following steps:
- Increase intake of vitamin C-rich foods (fruits and vegetables)
- Consider vitamin C supplements, especially if dietary intake is insufficient
- Monitor iron levels, as vitamin C deficiency can impair iron absorption
- Genetic testing can help identify whether an individual is genetically predisposed to lower vitamin C levels and allow for personalized dietary strategies.
Conclusion
Vitamin C is an essential nutrient with broad health benefits, from immune support to antioxidant protection and collagen synthesis. Genetic variations, like rs33972313 in SLC23A1 and SNPs in COL1A1, can influence how the body absorbs and utilizes vitamin C, potentially leading to deficiencies and structural weaknesses in connective tissues. Understanding genetic predispositions and ensuring adequate intake through diet or supplementation can help individuals optimize their health and well-being.