rs12915901
This is a intron variant variant in the ALDH1A2 gene.
▶Research that mentions this SNP (1)
▶Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target VariantFunctionalN=247Colin Shepherd et al.(2018)· Arthritis & Rheumatology
Shepherd et al. characterized the functional basis of the ALDH1A2 genetic association with osteoarthritis, identifying rs12915901 as a key target variant that affects retinoic acid pathway function. Using RNA-seq, allelic expression imbalance analysis, ALDH1A2 knockdown, and transcription factor binding assays in chondrocytes and joint tissues, they demonstrate that the risk allele impairs ALDH1A2 expression and downstream retinoic acid signaling. The study links rs12915901 and related variants to altered chondrogenic gene expression patterns implicated in osteoarthritis pathogenesis.
About ALDH1A2
This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
View all ALDH1A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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