CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study.

N. L. L. Casa, A. J. Casa Junior, A. V. Melo, L. S. Teodoro, G. R. Nascimento, A. F. Sousa, T. C. Flausino, D. Brito, R. Bergamini, L. Minasi, A. da Cruz, T. C. Vieira, M. Curado
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引用次数: 7

Abstract

We investigated the association between an aggrecan gene (ACAN) polymorphism and lumbar disc herniation (LDH). This was a case-control study with quinquennial age and gender groups. The study comprised 119 men and women aged between 20 and 60 from Goiânia (Brazil). Of these, 39 were allocated to the case group (Ca) and 80 to the control group (Ct). We gathered sociodemographic and clinical data, and peripheral blood samples. DNA was isolated for genotyping the ACAN variable number tandem repeat (VNTR) via conventional polymerase chain reaction (PCR). Data were statistically analyzed using the chi-square test, multiple comparison analysis, the Student t-test, and odds ratios, with a level of significance set at 5% (P ≤ 0.05). The groups were homogenous in terms of sociodemographic, anthropometric, and life style variables. The allele score for the ACAN VNTR was significantly lower in volunteers with LDH; the A22 allele was significantly more prevalent in this same group; the Ca group presented greater frequency of short alleles A13-A25, whereas the Ct group presented a higher frequency of long alleles. However, this difference was not statistically significant. In both groups, the most common alleles were A28, A27, and A29, and the A26/A26 genotype was significantly more common in the Ca group. The results showed an association between short alleles and LDH among the investigated adults (Ca), corroborating the hypothesis that aggrecan with shorter repeat lengths can lead to a reduction in the physiological proteoglycan function of intervertebral disc hydration and, consequently, increased individual susceptibility to LDH.
ACAN基因可变数串联重复多态性与腰椎间盘突出症的关联:一项病例对照研究。
我们研究了聚集蛋白基因(ACAN)多态性与腰椎间盘突出症(LDH)之间的关系。这是一项五岁年龄组和性别组的病例对照研究。这项研究包括119名年龄在20到60岁之间的男性和女性,他们来自巴西goinia。其中,39例分配给病例组(Ca), 80例分配给对照组(Ct)。我们收集了社会人口学和临床数据,以及外周血样本。分离DNA,采用常规聚合酶链反应(PCR)对ACAN可变数串联重复序列(VNTR)进行基因分型。采用卡方检验、多重比较分析、学生t检验和优势比对资料进行统计学分析,显著性水平设为5% (P≤0.05)。这些群体在社会人口学、人体测量学和生活方式变量方面是同质的。LDH患者的ACAN VNTR等位基因得分明显较低;A22等位基因在同一群体中更为普遍;Ca组的短等位基因A13-A25频率较高,而Ct组的长等位基因频率较高。然而,这种差异在统计学上并不显著。在两组中,最常见的等位基因是A28、A27和A29,其中A26/A26基因型在Ca组中更为常见。结果显示,在被调查的成年人中,短等位基因与LDH之间存在关联(Ca),证实了重复长度较短的聚集蛋白可以导致椎间盘水合作用的生理蛋白多糖功能降低,从而增加个体对LDH的易感性的假设。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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