An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population

ConclusionOur case –control study indicates that the common variant rs3204689 near ALDH1A2 is associated with KBD in Chinese population. The risk allele G of rs3204689 is statistically linked to the high expression of ALDH1A2, which is up-regulated in the cartilage and whole blood of KBD patients. Our findings sugge st a potential role of ALDH1A2 in the pathogenesis of KBD.
Source: Journal of Bone and Mineral Metabolism - Category: Orthopaedics Source Type: research