The Institute of Clinical Research, CHA University, Pochon, Republic of Korea.
Acta Neurochir (Wien). 2011 Jan;153(1):129-33. doi: 10.1007/s00701-010-0831-2. Epub 2010 Oct 10.
Intervertebral disc degeneration is now considered to be genetically determined in large part, with environmental factors also playing an important role. The human is known to uniquely exhibit variable numbers of tandem repeat polymorphism within the aggrecan CS1 domain. To date, the analysis of aggrecan's variable numbers of tandem repeat polymorphism has given inconsistent results with respect to the correlation between the allele's size and intervertebral disc degeneration. We wanted to investigate the patterns of the variable numbers of tandem repeat polymorphism in the aggrecan CS1 domain of Koreans, and we analyzed the association between the polymorphism and intervertebral disc degeneration.
A total of 66 males and 38 females participated in this study. Their ages ranged from 13 to 73 years. Genomic deoxyribonucleic acid was extracted from blood samples and PCR was carried out to detect the alleles of the aggrecan gene. The subjects were evaluated on MRI and they were classified by the number, severity, and morphology of disc degeneration.
The genotyping identified 11 alleles ranging from 21 to 36 repeats. Alleles 13, 18, 19, and 20 were not found in this study. Of the 104 subjects, 29 (28%) were homozygotes and 75 (72%) were heterozygotes. Allele 27 (39%) was the most common form together with alleles 26 (26%) and 28 (14%). The allele 36 is the longest among the alleles ever discovered. For the case that the analysis was limited to subjects with the fourth decades or less, the 21 allele was significantly overrepresented among the persons with multilevel disc degeneration (p < 0.006).
Carrying a copy of the allele with 21 repeats might increase the risk of multiple disc degeneration in the subjects below the age of 40 years.
如今，椎间盘退变在很大程度上被认为是由遗传决定的，环境因素也起着重要作用。人类已知在聚集蛋白聚糖 CS1 结构域中表现出独特的串联重复多态性可变数量。迄今为止，关于等位基因大小与椎间盘退变之间的相关性，对聚集蛋白聚糖的可变数量串联重复多态性的分析结果并不一致。我们希望研究韩国人聚集蛋白聚糖 CS1 结构域中串联重复多态性的模式，并分析这种多态性与椎间盘退变之间的关系。
共有 66 名男性和 38 名女性参与了这项研究。他们的年龄从 13 岁到 73 岁不等。从血液样本中提取基因组脱氧核糖核酸，进行聚合酶链反应以检测聚集蛋白聚糖基因的等位基因。对受试者进行 MRI 评估，并根据椎间盘退变的数量、严重程度和形态对其进行分类。
基因分型确定了 11 个等位基因，重复数从 21 到 36 不等。在这项研究中没有发现等位基因 13、18、19 和 20。在 104 名受试者中，29 名（28%）为纯合子，75 名（72%）为杂合子。等位基因 27（39%）是最常见的形式，与等位基因 26（26%）和 28（14%）一起。在已发现的等位基因中，等位基因 36 是最长的。对于分析仅限于 40 岁或以下的受试者的情况，21 等位基因在多节段椎间盘退变的患者中明显过多（p<0.006）。
携带 21 个重复等位基因的个体可能会增加 40 岁以下人群多节段椎间盘退变的风险。
