Association of a single nucleotide polymorphism in pregnancy-associated plasma protein-A2 with developmental dysplasia of the hip: a case-control study
Association of a single nucleotide polymorphism in pregnancy-associated plasma protein-A2 with developmental dysplasia of the hip: a case-control study
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DOI：
10.1016/j.joca.2011.10.004
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发表时间：
2012-01-01
影响因子：
7
通讯作者：
Shi, LiWei
中科院分区：
文献类型：
--
作者：
Jia, JingYu;Li, LianYong;Shi, LiWei
髋关节发育不良（DDH），以前称为先天性髋关节脱位，是一种常见的致残性疾病，其特征是在以后的生活中过早关节炎。遗传因素对DDH的影响早已为人所知，但仍然知之甚少。在此之前，我们已经用Affyphase 101（基因芯片）对一个四代中国家庭进行了全基因组连锁扫描，该家庭包括19名健康成员和5名DDH患者。应用Genespring GT v.2.0软件进行多点连锁分析，计算优势对数（OR）、非参数连锁（NPL）评分。对于参数连锁分析，使用假设的常染色体隐性性状和全等位基因频率，以及Affyssa“亚洲”等位基因频率。在染色体1q25.2a上获得了一个标记（r5726252）的NPL得分为2.698（P=0.0156）和LOD得分为2.119（θ =0）。单核苷酸多态性（SNP）rs726252位于妊娠相关血浆蛋白A2（PAPPA 2）第5内含子区域。尽管rs726252的LOD和NPL评分均未超过3.0，但一些研究表明PAPPA 2对胎儿发育和正常出生后生长具有重要影响。为了进一步研究PAPPA 2基因rs726252与DDH的相关性，我们采用病例对照研究方法，对310例DDH患者和487例正常对照进行了PAPPA 2基因rs726252与DDH的相关性研究，发现PAPPA 2与DDH有显著相关性。(C)2011年国际骨关节炎研究学会。由爱思唯尔有限公司出版。保留所有权利。
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 101( 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 CLOD) 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 (theta=0) were obtained on chromosome 1q25.2a for one marker (r5726252). 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. (C) 2011 Osteoarthritis Research Society International. Published by Elsevier Ltd. All rights reserved.