CobVar

CobVar curates and compiles genetic variant associations influencing vitamin B12 biomarkers from genome-wide association studies and candidate gene studies across multiple ethnicities and geographies.

Key Features:

• Comprehensive Variant Curation: The database comprises 324 genetic variant associations involving 222 unique genetic variants and 84 genes for 5 vitamin B12 traits.
• Multi-Trait Coverage: Data covers total serum/plasma B12, holotranscobalamin (active B12), total transcobalamin, holo haptocorrin, and methylmalonic acid.
• Cross-Study Validation: Approximately one-third of genetic variant associations have been reported in more than 1 independent study, and 15 variants have been reported in more than 1 ethnic group.
• Gene-Level Association Summaries: FUT2 gene showed the maximum number of associations for total serum/plasma B12 (N=39), followed by MTHFR (N=24) and TCN2 (N=23).

Scientific Applications:

• B12 Genetic Research: Facilitates structured approaches to studying genetic factors influencing cobalamin absorption, transport, and metabolism.
• Personalized Nutrition and Treatment: Supports researchers and nutritionists in advancing personalized treatment strategies for B12 insufficiency and deficiency.
• Biomarker-Gene Association Analysis: Enables investigation of how genetic variations affect direct and indirect measures of vitamin B12 status.

Methodology:

A PubMed search was performed for 5 B12 traits, resulting in 493 research publications, of which 47 relevant publications were reviewed and manually curated. The database backend was built using MongoDB.