The genetics of intervertebral disc degeneration. Associated genes

被引:123
作者
Kalichman, Leonid [1 ]
Hunter, David J. [1 ]
机构
[1] Boston Univ, Sch Med, Clin Epidemiol Res & Training Unit, Boston, MA 02118 USA
关键词
intervertebral disc; heritability; gene; spine;
D O I
10.1016/j.jbspin.2007.11.002
中图分类号
R5 [内科学];
学科分类号
1002 [临床医学]; 100201 [内科学];
摘要
Objectives: To review current knowledge on genes associated with intervertebral disk degeneration. Methods: A literature-based narrative review of the English language medical literature. Results and conclusions: There are a number of genes that have been associated with intervertebral disk degeneration in humans, including genes coding for collagen I, collagen IX (COL9A2 and COL9A3), collagen XI (COL11A2), IL-1, aggrecan, vitamin D receptor, MMP-3, and CILP. For specific genes and some environmental factors, gene-gene, gene-environment and gene-age interactions may exist. Candidate-gene association studies have limitations in detecting the genetic basis of the disease because this approach relies on having predicted the correct genes on the basis of a biological hypothesis or the location of known linkage regions. Additional studies, including linkage analyses and whole genome scan studies in different populations and whole range of ages, are required to improve our understanding of the influence of the aforementioned genes on intervertebral disk degeneration and identify novel genes. (c) 2008 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码:388 / 396
页数:9
相关论文
共 68 条
[1]
An allele of COL9A2 associated with intervertebral disc disease [J].
Annunen, S ;
Paassilta, P ;
Lohiniva, J ;
Perälä, M ;
Pihlajamaa, T ;
Karppinen, J ;
Tervonen, O ;
Kröger, H ;
Lähde, S ;
Vanharanta, H ;
Ryhänen, L ;
Göring, HHH ;
Ott, J ;
Prockop, DJ ;
Ala-Kokko, L .
SCIENCE, 1999, 285 (5426) :409-412
[2]
Conditional deletion of the TGF-β type II receptor in Col2a expressing cells results in defects in the axial skeleton without alterations in chondrocyte differentiation or embryonic development of long bones [J].
Baffi, MO ;
Slattery, E ;
Sohn, P ;
Moses, HL ;
Chytil, A ;
Serra, R .
DEVELOPMENTAL BIOLOGY, 2004, 276 (01) :124-142
[3]
Lumbar disc degeneration:: Epidemiology and genetics [J].
Battié, MC ;
Videman, T .
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 2006, 88A :3-9
[4]
SPINE UPDATE - AGING AND DEGENERATION OF THE HUMAN INTERVERTEBRAL DISC [J].
BUCKWALTER, JA .
SPINE, 1995, 20 (11) :1307-1314
[5]
Genetics of disc degeneration [J].
Chan, Danny ;
Song, Youqiang ;
Sham, Pak ;
Cheung, Kenneth M. C. .
EUROPEAN SPINE JOURNAL, 2006, 15 (Suppl 3) :S317-S325
[6]
Association of the Taq I allele in vitamin D receptor with degenerative disc disease and disc bulge in a Chinese population [J].
Cheung, KMC ;
Chan, D ;
Karppinen, J ;
Chen, YQ ;
Jim, JJT ;
Yip, SP ;
Ott, J ;
Wong, KK ;
Sham, P ;
Luk, KDK ;
Cheah, KSE ;
Leong, JCY ;
Song, YQ .
SPINE, 2006, 31 (10) :1143-1148
[7]
Vitamin D target proteins: Function and regulation [J].
Christakos, S ;
Barletta, F ;
Huening, M ;
Dhawan, P ;
Liu, Y ;
Porta, A ;
Peng, X .
JOURNAL OF CELLULAR BIOCHEMISTRY, 2003, 88 (02) :238-244
[8]
Darwish Hisham, 1993, Critical Reviews in Eukaryotic Gene Expression, V3, P89
[9]
Matrix metalloproteinases: The clue to intervertebral disc degeneration? [J].
Goupille, P ;
Jayson, MIV ;
Valat, JP ;
Freemont, AJ .
SPINE, 1998, 23 (14) :1612-1626
[10]
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene [J].
Grant, SFA ;
Reid, DM ;
Blake, G ;
Herd, R ;
Fogelman, I ;
Ralston, SH .
NATURE GENETICS, 1996, 14 (02) :203-205