The association of aggrecan gene polymorphism with the risk of intervertebral disc degeneration
The association of aggrecan gene polymorphism with the risk of intervertebral disc degeneration
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DOI：
10.1007/s00701-010-0831-2
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发表时间：
2011-01-01
影响因子：
2.4
通讯作者：
Chung, Sang Sup
中科院分区：
文献类型：
--
作者：
Kim, Nam Keun;Shin, Dong Ah;Chung, Sang Sup
目前认为椎间盘退变在很大程度上是由基因决定的，环境因素也起着重要作用。已知人类在aggrecan CS1结构域中独特地表现出可变数量的串联重复多态性。迄今为止，对aggrecan的可变数目串联重复多态性的分析已经给出了不一致的结果，关于等位基因的大小和椎间盘退变之间的相关性。我们想要研究韩国人aggrecan CS1结构域可变数量串联重复多态性的模式，并分析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。从血样中提取基因组脱氧核糖核酸，并进行PCR检测聚集蛋白基因的等位基因。对受试者进行MRI评估，并根据椎间盘退变的数量、严重程度和形态进行分类。基因分型鉴定出11个等位基因，重复数在21 ~ 36次之间。本研究未发现13、18、19和20等位基因。其中纯合子29例（28%），杂合子75例（72%）。等位基因27（39%）、26（26%）和28（14%）最为常见。36号等位基因是迄今为止发现的最长的等位基因。如果分析仅限于40岁或更少的受试者，那么21等位基因在多节段椎间盘退变患者中的比例明显过高（p < 0.006）。在40岁以下的受试者中，携带21个重复的等位基因拷贝可能会增加多发椎间盘退变的风险。
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.