A replication study for the association of rs726252 in PAPPA2 with developmental dysplasia of the hip in Chinese Han population.
A replication study for the association of rs726252 in PAPPA2 with developmental dysplasia of the hip in Chinese Han population.
复制标题
PAPPA2中RS726252与中国汉族中髋关节发育异常发育不良的复制研究。
DOI：
10.1155/2014/979520
复制
发表时间：
2014
影响因子：
--
通讯作者：
Jiang Q
中科院分区：
文献类型：
--
作者：
Shi D;Sun W;Xu X;Hao Z;Dai J;Xu Z;Chen D;Teng H;Jiang Q
发育性髋关节发育不良（DDH）是一种常见的发育性髋关节疾病，其范围从轻度髋臼畸形到难复性髋关节脱位。既往研究提示妊娠相关血浆蛋白A2（PAPPA 2）与中国汉族人群DDH易感性显著相关。但考虑到样本量，这种关联性仍有争议。为了证实报道的PAPPA2，rs726252单核苷酸多态性（SNP）与DDH的关联，我们在大量受试者中进行了病例对照研究。采用TaqMan法对697例DDH患者和707例对照者进行rs726252基因分型。对该SNP与DDH之间的关联进行统计学评估。病例组与对照组基因型分布及等位基因频率比较均无显著性差异。重复性研究表明，rs726252与DDH在中国汉族人群中的相关性是值得商榷的。PAPPA2和DDH之间的关联应通过其他研究进行评估。
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.
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