Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population.
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.
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.|Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Sen
S
Liu
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.|Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Nan
N
Wu
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Jiaqi
J
Liu
Biology and Biomedical Sciences, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts.
Hao
H
Liu
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Xinlin
X
Su
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Zhenlei
Z
Liu
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Yuzhi
Y
Zuo
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Weisheng
W
Chen
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Gang
G
Liu
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Yixin
Y
Chen
PET-CT Center, Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 17, Pan Jia Yuan Nan-li, Beijing 100021, P.R. China.
Yue
Y
Ming
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Tangmi
T
Yuan
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Xiao
X
Li
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Jun
J
Chen
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Zenan
Z
Xia
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Shengru
S
Wang
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Jia
J
Chen
Shenzhen Key Laboratory of Anti-Ageing and Regenerative Medicine, Center for Anti-Ageing and Regenerative Medicine, Shenzhen University Medical School, Shenzhen, Guangdong Province 506080, P.R. China.
Tao
T
Liu
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Xu
X
Yang
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Yufen
Y
Ma
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Jianguo
J
Zhang
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Jianxiong
J
Shen
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Shugang
S
Li
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Yipeng
Y
Wang
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Hong
H
Zhao
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Keyi
K
Yu
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Yu
Y
Zhao
Department of Orthopaedic Surgery, West China Hospital, Sichuan University, Chengdu 610041, P.R. China.
Shishu
S
Huang
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Xisheng
X
Weng
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.|Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Guixing
G
Qiu
School of Biomedical Sciences Core Laboratory, Institute of Stem Cell, Genomics and Translational Research, Shenzhen Research Institute, Chinese University of Hong Kong, Shenzhen 518057, China.|Ministry of Education Key Laboratory for Regenerative Medicine, School of Biomedical Sciences, Faculty of Medicine, Chinese University of Hong Kong, Hong Kong SAR 999077, China.
Chao
C
Wan
Shenzhen Key Laboratory of Anti-Ageing and Regenerative Medicine, Center for Anti-Ageing and Regenerative Medicine, Shenzhen University Medical School, Shenzhen, Guangdong Province 506080, P.R. China.
Guangqian
G
Zhou
Beijing Key Laboratory for Genetic Research of Bone and Joint Disease, No.1 Shuaifuyuan, Beijing 100730, P.R. China.|Central laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing 100730, P.R. China.
Zhihong
Z
Wu
D000071121:ADAMTS4 Protein / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D006801:Humans; D055959:Intervertebral Disc Degeneration / Q000235:genetics*; D007405:Intervertebral Disc Displacement / Q000235:genetics*; D008297:Male; D008875:Middle Aged
D000071121:ADAMTS4 Protein
a disintegrin and metalloprotease with thrombospondin motifs-4 (ADAMTS-4); lumbar disc degeneration (LDD); single nucleotide polymorphism (SNP)