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Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population.

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机构： [1]Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of MedicalSciences, No.1 Shuaifuyuan, Beijing 100730, P. R. China [2]Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, No.1Shuaifuyuan, Beijing 100730, P.R. China [3]Biology and Biomedical Sciences, Division of Medical Sciences, Harvard Medical School, Boston,Massachusetts [4]PET-CT Center, Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences,No. 17, Pan JiaYuan Nan-li, Beijing 100021, P.R. China [5]Shenzhen Key Laboratory of Anti-Ageing and Regenerative Medicine, Center for Anti-Ageing andRegenerative Medicine, Shenzhen University Medical School, Shenzhen, Guangdong Province 506080, P.R. China [6]Department of OrthopaedicSurgery, West China Hospital, Sichuan University, Chengdu 610041, P.R. China [7]School of Biomedical Sciences Core Laboratory, Institute ofStem Cell, Genomics and Translational Research, Shenzhen Research Institute, Chinese University of Hong Kong, Shenzhen 518057, China [8]Ministry of Education Key Laboratory for Regenerative Medicine, School of Biomedical Sciences, Faculty of Medicine, Chinese University ofHong Kong, Hong Kong SAR 999077, China [9]Central laboratory, Peking Union Medical College Hospital, Peking Union Medical College andChinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China

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Low back pain (LBP) is a common health problem and many LBP are caused by lumbar disc degeneration (LDD). ADAMTS-4 (a disintegrin and metalloprotease with thrombospondin motifs-4), also known as aggrecanse-1, plays a core role in degeneration of extracellular matrix in LDD. To investigate the association between ADAMTS-4 genetic polymorphism and LDD, we genotyped SNPs in and around ADAMTS-4. We recruited 482 sporadic cases of LDD and 496 healthy controls from Chinese Han population. Five SNPs were selected and phenotyped by the Sequenom MassARRAY system. Allelic, genotypic, and haplotypic association was performed. Rs4233367 (c.1877 C>T), which located in exon of ADAMTS-4 showed significant association with LDD. The T allele conferred a lower risk of LDD with an OR of 0.69 and TT genotype is at nearly one-fifth of the risk compared to CC genotype. Other tested SNPs didn't show significant difference between the case and control groups. The SNP rs4233367 in the exon of ADAMTS-4 gene may be associated with lumbar disc degeneration. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 34:860-864, 2016. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.

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出版当年[2016]版：

大类 | 3 区医学

小类 | 2 区骨科

最新[2023]版：

大类 | 3 区医学

小类 | 3 区骨科

第一作者：

第一作者机构： [1]Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of MedicalSciences, No.1 Shuaifuyuan, Beijing 100730, P. R. China [2]Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, No.1Shuaifuyuan, Beijing 100730, P.R. China

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通讯机构： [2]Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, No.1Shuaifuyuan, Beijing 100730, P.R. China [9]Central laboratory, Peking Union Medical College Hospital, Peking Union Medical College andChinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China

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