Karppinen Jaro, Daavittila Iita, Solovieva Svetlana, Kuisma Mari, Taimela Simo, Natri Antero, Haapea Marianne, Korpelainen Raija, Niinimäki Jaakko, Tervonen Osmo, Ala-Kokko Leena, Männikkö Minna
Musculoskeletal Centre, Finnish Institute of Occupational Health, Oulu, Finland.
Spine (Phila Pa 1976). 2008 May 15;33(11):1236-41. doi: 10.1097/BRS.0b013e318170fd0e.
A cross-sectional genotype-phenotype evaluation.
To evaluate the genetic background to Modic changes in an occupational cohort.
Modic changes are vertebral endplate changes visible in magnetic resonance imaging. Twin studies suggest that intervertebral disc degeneration may be primarily explained by genetic factors, but no data exist on genetic factors of Modic changes.
Thirteen variations in 8 genes (COL9A2, COL9A3, COL11A2, IL1A, IL1B, IL6, MMP3, and VDR) were genotyped in an occupational cohort of 159 male train engineers and 69 male paper mill workers. All the subjects were scanned by magnetic resonance imaging and evaluated for Modic changes.
Out of the 228 subjects, 128 (56%) were found to have Modic changes at one or more disc levels, exclusively of type I in 15%, of type II in 32%, and of both type I and type II in 10%. None of the single nucleotide polymorphisms was significantly associated with Modic changes when analyzed independently, but when gene-gene interactions were evaluated, interleukin-1A (IL1A) and matrix metalloproteinase-3 (MMP3) polymorphisms together were associated with type II Modic changes (OR = 3.2, 95% CI = 1.2-8.5; P = 0.038), as was the IL1 gene cluster together with the MMP3 polymorphism (OR = 8.14, 95% CI = 1.72-38.44; P = 0.008).
This is the first study evaluating the role of genetic factors in relation to Modic changes. Genetic variations in the IL1 cluster and the MMP3 gene together were found to be significantly associated with type II Modic changes.
一项横断面基因型 - 表型评估。
评估职业队列中莫迪克改变的遗传背景。
莫迪克改变是磁共振成像中可见的椎体终板改变。双胞胎研究表明，椎间盘退变可能主要由遗传因素解释，但尚无关于莫迪克改变遗传因素的数据。
对159名男性火车司机和69名男性造纸厂工人的职业队列进行了8个基因（COL9A2、COL9A3、COL11A2、IL1A、IL1B、IL6、MMP3和VDR）中13个变异的基因分型。所有受试者均接受磁共振成像扫描并评估莫迪克改变情况。
在228名受试者中，128名（56%）在一个或多个椎间盘水平发现有莫迪克改变，其中仅I型改变占15%，II型改变占32%，I型和II型改变均有的占10%。单独分析时，没有一个单核苷酸多态性与莫迪克改变显著相关，但在评估基因 - 基因相互作用时，白细胞介素 - 1A（IL1A）和基质金属蛋白酶 - 3（MMP3）多态性共同与II型莫迪克改变相关（OR = 3.2，95%CI = 1.2 - 8.5；P = 0.038），IL1基因簇与MMP3多态性共同作用时也与II型莫迪克改变相关（OR = 8.14，95%CI = 1.72 - 38.44；P = 0.008）。
这是第一项评估遗传因素与莫迪克改变关系的研究。发现IL1基因簇和MMP3基因的遗传变异共同与II型莫迪克改变显著相关。
