
Researchers investigated the mechanism of action for a DNA variant, rs1046934, associated with osteoarthritis (OA). They found that the rs1046934 genotype was associated with differential DNA methylation at specific CpG sites. Allelic expression imbalance (AEI) analysis showed that the expression of COLGALT2 and TSEN15 genes was affected by the genotype. Reporter gene assays confirmed that the CpGs were located in enhancer regions in chondrocytes and directly linked methylation with COLGALT2 expression. The study concluded that COLGALT2 is the target gene for the OA locus marked by rs1046934, and it shares a common mechanism of action with another OA locus marked by rs11583641.
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