Article
Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.
European journal of human genetics : EJHG - 1 Apr 2009
Chen Zhijun, Tang Nelson L S, Cao Xingbin, Qiao Di, Yi Long, Cheng Jack C Y, Qiu Yong
Abstract excerpt
Adolescent idiopathic scoliosis (AIS) is widely recognized as a complex disorder with a strong genetic predisposition. In previous studies, a number of extracellular matrixes (ECMs) related genes have been duplicated as candidate genes for AIS. Matrilin-1 plays an important role in the organization of the ECM, and matrilin-1 gene (MATN1) mutant mice showed similar phenotypes to scoliosis. We hypothesized that...
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