A novel missense variant in TXNDC3 is associated with developmental dysplasia of the hip in Han Chinese population.

ABSTRACT: Developmental dysplasia of the hip (DDH) is one of the most common inborn disabilities of the hip joint and a common disease with a genetic component for its etiology. However, genetic basis of Developmental dysplasia of the hip (DDH) remains largely unknown. Previous study has identified that TXNDC3 is significant associated with osteoarthritis and the development of chondrocytes and bone. In this study, we carried out a case-control study to investigate for the association between TXNDC3 and DDH, to find whether acetabular cartilage and bone formation in hip developmental progress is regulated by TXNDC3. We totally enrolled 984 radiology confirmed DDH children and 2043 healthy controls to conduct a case-control association study by genotyping SNP rs10250905 on TXNDC3. The rs10250905 vari

SUBMITTER: Qiao L 

PROVIDER: S-EPMC6965766 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature