Developmental dysplasia of the hip (DDH), previously known as congenital hip dislocation, is a frequently disabling condition characterized by premature arthritis in later life. Genetic influence on DDH has been long known, but is still poorly understood. Previously, we have performed a genome-wide linkage scan with Affymetrix 10K genechip for a four-generation Chinese family, which included 19 healthy members and five patients with DDH. Parametric and nonparametric multipoint linkage analyses were carried out with Genespring GT v.2.0 software, and the logarithm of odds (LOD) score and nonparametric linkage (NPL) score were calculated. For parametric linkage analysis, an assuming autosomal recessive trait was used with full penetrance, and Affymetrix "Asian" allele frequencies. The NPL score of 2.698 (P=0.0156) and LOD score of 2.119 (θ=0) were obtained on chromosome 1q25.2a for one marker (rs726252). The single nucleotide polymorphism (SNP) rs726252 locates in the region of fifth intron of pregnancy-associated plasma protein-A2 (PAPPA2). Although neither LOD nor NPL scores of rs726252 has exceeded 3.0, several researches have demonstrated that PAPPA2 have important consequences for the development of the fetus and normal postnatal growth. To further evaluate this possible association, in the present study, we examined the genetic association of rs726252 in PAPPA2 gene with sporadic DDH in Han Chinese population using case-control study, including 310 patients with sporadic DDH and 487 control subjects, and found a significant association between PAPPA2 and DDH.

作者：Jingyu, Jia；Lianyong, Li；Qun, Zhao；Lijun, Zhang；Jiling, Ru；Xijuan, Liu；Qiwi, Li；Liwei, Shi

来源：Osteoarthritis and cartilage 2012 年 20卷 1期