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Genetic association study of growth hormone receptor and idiopathic scoliosis (2007)_香港中文大学化學病理學系 (C

香港中文大学 辅仁网/2017-06-20

Genetic association study of growth hormone receptor and idiopathic scoliosis
Publication in refereed journal


香港中文大学研究人员 ( 现职)
郑振耀教授 (矫形外科及创伤学系)
杨晓恩教授 (矫形外科及创伤学系)
邓亮生教授 (化学病理学系)


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引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/15WOS source URL

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摘要Although the etiology of scoliosis is multifactorial, genetic factors play an important role. Recent linkage studies on familial idiopathic scoliosis revealed multiple putative predisposition loci. A genetic association study is complementary to linkage studies in defining the genetic basis of complex traits of diseases like idiopathic scoliosis. The onset and progression of adolescent idiopathic scoliosis is a manifestation of aberrant growth in the spine. Meanwhile, a high proportion of patients with adolescent idiopathic scoliosis have additional phenotypes, which suggest systemic growth dysregulation during puberty. The growth hormone-insulin-like growth factor axis plays the principle role in skeletal growth regulation. Because growth hormone receptor alleles were associated with body stature and response to growth hormone treatment, we hypothesized the growth hormone receptor is a candidate predisposing and disease modifier gene for adolescent idiopathic scoliosis. Five hundred ten girls with adolescent idiopathic scoliosis and 363 normal subjects were recruited. Curve severity, arm span, and bone mineral densities were recorded. Five polymorphisms were studied by polymerase chain reaction-restriction fragment length polymorphism. All the genotype and allele frequencies were comparable between groups. The Cobb angles among patients of different genotypes were similar. The growth hormone receptor did not appear to be a predisposing gene or disease modifier gene of adolescent idiopathic scoliosis.

着者Qiu XS, Tang NLS, Yeung HY, Qiu Y, Cheng JCY
期刊名称CLINICAL ORTHOPAEDICS AND RELATED RESEARCH
详细描述PMID: 17514010 . DOI: 10.1097/BLO.0b013e3180986dc2
出版年份2007
月份9
日期1
期次462
出版社LIPPINCOTT WILLIAMS & WILKINS
页次53 - 58
国际标準期刊号0009-921X
电子国际标準期刊号http://aims.cuhk.edu.hk/converis/portal/Publication/1528-1132
语言英式英语

Web of Science 学科类别Orthopedics; ORTHOPEDICS; Surgery; SURGERY

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