BACKGROUND: Given the genetic and proteomic advances of the past decade, understanding of the molecular etiopathogenesis of several complex diseases is increasing. Intervertebral disc disease (IVDD) is no different from other complex diseases where both environmental and genetic constituents are considered causes. This concept has challenged the traditional view that age, occupation, smoking, obesity, and primarily wear and tear are the only sources of disc degeneration. METHODS: We conducted a systematic Medline review of the most current articles related to gene involvement in the development of IVDD in humans. RESULTS: Candidate gene linkage and association studies involving the functional components of the intervertebral disc, including collagen I, collagen IX, collagen XI, aggrecan, extracellular matrix-degrading enzymes, inflammatory cytokines (IL-1, IL-6, and TNFα), Fas/FasL and vitamin D receptors, have had promising results. CONCLUSIONS: This review emphasizes the latest advances in gene association with specific degenerated disc phenotypes, single nucleotide polymorphisms, disease heredity, and gene-environmental interactions in relation to IVDD to help improve future studies related to the genetic mechanisms underlying IVDD.
BACKGROUND: Given the genetic and proteomic advances of the past decade, understanding of the molecular etiopathogenesis of several complex diseases is increasing. Intervertebral disc disease (IVDD) is no different from other complex diseases where both environmental and genetic constituents are considered causes. This concept has challenged the traditional view that age, occupation, smoking, obesity, and primarily wear and tear are the only sources of disc degeneration. METHODS: We conducted a systematic Medline review of the most current articles related to gene involvement in the development of IVDD in humans. RESULTS: Candidate gene linkage and association studies involving the functional components of the intervertebral disc, including collagen I, collagen IX, collagen XI, aggrecan, extracellular matrix-degrading enzymes, inflammatory cytokines (IL-1, IL-6, and TNFα), Fas/FasL and vitamin D receptors, have had promising results. CONCLUSIONS: This review emphasizes the latest advances in gene association with specific degenerated disc phenotypes, single nucleotide polymorphisms, disease heredity, and gene-environmental interactions in relation to IVDD to help improve future studies related to the genetic mechanisms underlying IVDD.
Authors: You-Qiang Song; Tatsuki Karasugi; Kenneth M C Cheung; Kazuhiro Chiba; Daniel W H Ho; Atsushi Miyake; Patrick Y P Kao; Kit Ling Sze; Anita Yee; Atsushi Takahashi; Yoshiharu Kawaguchi; Yasuo Mikami; Morio Matsumoto; Daisuke Togawa; Masahiro Kanayama; Dongquan Shi; Jin Dai; Qing Jiang; Chengai Wu; Wei Tian; Na Wang; John C Y Leong; Keith D K Luk; Shea-ping Yip; Stacey S Cherny; Junwen Wang; Stefan Mundlos; Anthi Kelempisioti; Pasi J Eskola; Minna Männikkö; Pirkka Mäkelä; Jaro Karppinen; Marjo-Riitta Järvelin; Paul F O'Reilly; Michiaki Kubo; Tomoatsu Kimura; Toshikazu Kubo; Yoshiaki Toyama; Hiroshi Mizuta; Kathryn S E Cheah; Tatsuhiko Tsunoda; Pak-Chung Sham; Shiro Ikegawa; Danny Chan Journal: J Clin Invest Date: 2013-11 Impact factor: 14.808
Authors: Jillian E Mayer; James C Iatridis; Danny Chan; Sheeraz A Qureshi; Omri Gottesman; Andrew C Hecht Journal: Spine J Date: 2013-03 Impact factor: 4.166