Medical News Observer

Key points:

• Vitamin A Genome-wide associated study with over 22,274 participants.
• The study revealed eight common variant loci and a rare variant signal associated with retinol levels. It also identified new retinol-associated genes related to lipid biology and endocrine signaling.
• Developing a retinol polygenic score could help identify individuals at risk for abnormal retinol levels, offering a path to personalized nutritional or therapeutic interventions to maintain optimal health.

A group of Newcastle researchers has been studying how vitamin A, also known as retinol, affects the development of mental health disorders. The team is investigating the connection between retinol levels and altered neuronal connectivity, which is often seen in people with psychiatric disorders such as schizophrenia. Retinol is crucial for brain cell differentiation, maturation, and synaptic function, so this research could provide valuable insights into developing and treating these disorders.

Vitamin A Genome-wide association study

In the most extensive genome-wide association study (GWAS) on retinol conducted to date, with over 22,274 participants, researchers have identified eight common variant loci and a rare-variant signal associated with circulating retinol levels. The study also points to novel retinol-associated genes related to lipid biology, energy homeostasis, and endocrine signaling. 

The study used genetic proxies to examine the causal relationships between retinol and almost 20,000 clinical phenotypes. The researchers applied a phenome-wide Mendelian randomization study (MR-pheWAS). It suggested its potential causal effects on inflammation, adiposity, ocular health, the microbiome, and brain phenotypes. It also notes how lipids and serum creatinine may influence circulating retinol levels. 

Retinol polygenic score

Developing a retinol polygenic score could help identify individuals at risk of deviating from the normative circulating retinol range for their age, offering insights into potential retinol-related therapies or nutritional interventions and prioritizing traits for further research.

Implications

The research paves the way for using synthetic retinoids more effectively in treating health conditions and underscores the critical balance required in vitamin A intake. Excessive or insufficient retinol levels can lead to diverse health issues, emphasizing the need for moderated consumption, especially among pregnant women and those of childbearing age, to avoid developmental complications.

References

Reay, William R., Dylan J. Kiltschewskij, Maria A. Di Biase, Zachary F. Gerring, Kousik Kundu, Praveen Surendran, Laura A. Greco, et al. “Genetic Influences on Circulating Retinol and Its Relationship to Human Health.” Nature Communications 15, no. 1 (February 19, 2024): 1490. https://doi.org/10.1038/s41467-024-45779-x.