title: A replication study for the association of rs726252 in PAPPA2 with developmental dysplasia of the hip in Chinese Han population.
abstract: Developmental dysplasia of the hip (DDH) is a common developmental hip disorder, which ranges from mild acetabulum malformation to irreducible hip dislocation. A previous study suggested a significant association of pregnancy-associated plasma protein-A2 (PAPPA2) with DDH susceptibility in Chinese Han population. But with the consideration of the sample size, the association was still debatable. To confirm the association of the reported single nucleotide polymorphism (SNP) in PAPPA2, rs726252 with DDH, we conducted a case-control study in a larger number of subjects. We genotyped rs726252 in 697 DDH subjects and 707 control subjects by TaqMan assay. The association between this SNP and DDH was evaluated statistically. No significant difference was found in any comparison of genotype distribution nor allele frequency between cases and controls. Our replication study indicated that the association between rs726252 and DDH in Chinese Han population was debatable. The association between PAPPA2 and DDH should be evaluated by additional studies.
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, Jiangsu 210061, China.
authors.forename: Dongquan
authors.initials: D
authors.lastname: Shi
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; The Center of Diagnosis and Treatment for Joint Disease, Nanjing Drum Tower Hospital, Clinical College of Nanjing Medical University, Nanjing, Jiangsu 210008, China.
authors.forename: Wei
authors.identifier: 0000-0002-6096-144X
authors.initials: W
authors.lastname: Sun
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, Jiangsu 210061, China.
authors.forename: Xingquan
authors.initials: X
authors.lastname: Xu
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; Center of Diagnosis and Treatment for Developmental Dysplasia of Hip, Kang'ai Hospital, Nanjing, Jiangsu 210008, China.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Hao
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, Jiangsu 210061, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Dai
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, Jiangsu 210061, China.
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Xu
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, Jiangsu 210061, China.
authors.forename: Dongyang
authors.initials: D
authors.lastname: Chen
authors.affiliation: Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, Jiangsu 210061, China.
authors.forename: Huajian
authors.initials: H
authors.lastname: Teng
authors.affiliation: The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, Jiangsu 210008, China ; Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, Jiangsu 210061, China ; The Center of Diagnosis and Treatment for Joint Disease, Nanjing Drum Tower Hospital, Clinical College of Nanjing Medical University, Nanjing, Jiangsu 210008, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Jiang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011266:Pregnancy-Associated Plasma Protein-A / Q000235:genetics*; D015203:Reproducibility of Results
chemical_list: C430889:PAPPA2 protein, human; D011266:Pregnancy-Associated Plasma Protein-A