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Association between ADAMTS‐4 gene polymorphism and lumbar disc degeneration in Chinese Han population
Author(s) -
Liu Sen,
Wu Nan,
Liu Jiaqi,
Liu Hao,
Su Xinlin,
Liu Zhenlei,
Zuo Yuzhi,
Chen Weisheng,
Liu Gang,
Chen Yixin,
Ming Yue,
Yuan Tangmi,
Li Xiao,
Chen Jun,
Xia Zenan,
Wang Shengru,
Chen Jia,
Liu Tao,
Yang Xu,
Ma Yufen,
Zhang Jianguo,
Shen Jianxiong,
Li Shugang,
Wang Yipeng,
Zhao Hong,
Yu Keyi,
Zhao Yu,
Huang Shishu,
Weng Xisheng,
Qiu Guixing,
Wan Chao,
Zhou Guangqian,
Wu Zhihong
Publication year - 2016
Publication title -
journal of orthopaedic research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.041
H-Index - 155
eISSN - 1554-527X
pISSN - 0736-0266
DOI - 10.1002/jor.23081
Subject(s) - han chinese , chinese population , adamts , medicine , polymorphism (computer science) , genetics , gene , genotype , biology , single nucleotide polymorphism , matrix metalloproteinase , thrombospondin , metalloproteinase
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.