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首页> 外文期刊>Journal of genetics >Association analysis between four vitamin D receptor gene polymorphisms and developmental dysplasia of the hip
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Association analysis between four vitamin D receptor gene polymorphisms and developmental dysplasia of the hip

机译：四种维生素D受体基因多态性与髋关节发育不良的关联分析

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摘要

Developmental dysplasia of the hip (DDH) is a congenital condition characterized by abnormality in acetabulum size and/or shape. The incidence rate of DDH differs between different populations with risk factors including positive family history, breech presentation, sex, firstborn status, side of the hip, mode of delivery and oligohydramnios. It is recognized that DDH has a genetic component that exhibit autosomal dominant patterns. Many candidate genes have been studied and found to be associated with the disease; most of them are normally involved in cartilage development and joint metabolism. In this study, the association of four single-nucleotide polymorphisms (SNPs) (rs731236, rs1544410, rs7975232 and rs2228570) in the vitamin D receptor (VDR) gene was studied by a case-control analysis. The study sample involves 50 cases with confirmed DDH presentation and 50 nonDDH controls. SNPs were genotyped using conventional polymerase chain reaction (PCR) and restriction fragment-length polymorphism (RFLP) techniques. Genotype and allele frequencies were analysed using SPSS software. No significant associations were found between the VDR polymorphisms analysed and DDH. Further work need to be performed using genomewide analysis to elucidate the genetic basis of DDH.
机译：髋关节（DDH）的发育不良是一种先天性条件，其特征在于髋臼尺寸和/或形状的异常。 DDH的发病率在不同群体之间的风险因素之间不同，包括阳性家庭历史，后膛介绍，性别，初级状态，臀部的一侧，送货方式和寡盐水溶液。人们认识到DDH具有表现出常染色体显性模式的遗传组分。已经研究了许多候选基因，发现与这种疾病有关;其中大多数通常参与软骨开发和关节代谢。在该研究中，通过病例对照分析研究了四种单核苷酸多态性（SNP）（SNP）（SNP）（RS731236，RS2228570，RS7975232和RS2228570）的关联。该研究样本涉及50例确诊的DDH介绍和50个Nonddh对照。使用常规聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）技术进行基因分型。使用SPSS软件分析基因型和等位基因频率。在分析VDR多态性之间没有发现显着的关联和DDH。需要使用Genomewide分析进行进一步的工作来阐明DDH的遗传基础。

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