Vitamin D metabolism gene polymorphisms may play role in Smith-Lemli-Opitz syndrome

The role of vitamin D metabolism gene polymorphisms (vitDMGPs) in various health conditions, including Smith-Lemli-Opitz syndrome, is critical, according to a comprehensive bibliometric study.

The research emphasizes that vitamin D requires activation for its pharmacological effect, and while previous studies have explored the relationship between vitamin D and diseases, limited attention has been given to vitDMGPs.

The study highlights a rapid increase in publications on vitDMGPs, with the United States leading in research efforts. Key genes like CYP24A1 and CYB27A1 play central roles, and promising avenues for further research include investigating specific gene markers and their associations with diseases.

This insight suggests that advancements in understanding vitDMGPs could potentially lead to innovative diagnostic and treatment approaches for individuals affected by Smith-Lemli-Opitz syndrome.

Reference
Abouzid M, Karaźniewicz-Łada M, Abdelazeem B, et al. Research Trends of Vitamin D Metabolism Gene Polymorphisms Based on a Bibliometric Investigation. Genes (Basel). 2023;14(1):215. doi: 10.3390/genes14010215. PMID: 36672957; PMCID: PMC9859253.