Casa N L L, Casa Junior A J, Melo A V, Teodoro L S, Nascimento G R, Sousa A F, Flausino T C, Brito D, Bergamini R, Minasi L B, da Cruz A D, Vieira T C, Curado M P
Universidade Federal de Goiás, Goiânia, GO, Brasil
Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
Genet Mol Res. 2016 Dec 19;15(4):gmr-15-04-gmr.15048867. doi: 10.4238/gmr15048867.
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.
我们研究了聚集蛋白聚糖基因（ACAN）多态性与腰椎间盘突出症（LDH）之间的关联。这是一项按年龄和性别每五年分组的病例对照研究。该研究纳入了来自巴西戈亚尼亚的119名年龄在20至60岁之间的男性和女性。其中，39人被分配到病例组（Ca），80人被分配到对照组（Ct）。我们收集了社会人口统计学和临床数据以及外周血样本。通过常规聚合酶链反应（PCR）分离DNA以对ACAN可变数目串联重复序列（VNTR）进行基因分型。使用卡方检验、多重比较分析、学生t检验和比值比进行统计学分析，显著性水平设定为5%（P≤0.05）。两组在社会人口统计学、人体测量学和生活方式变量方面具有同质性。患有LDH的志愿者中ACAN VNTR的等位基因分数显著较低；A22等位基因在同一组中显著更常见；Ca组中短等位基因A13 - A25的频率更高，而Ct组中长等位基因的频率更高。然而，这种差异没有统计学意义。在两组中，最常见的等位基因是A28、A27和A29，并且A26/A26基因型在Ca组中显著更常见。结果显示在所研究的成年人（Ca组）中短等位基因与LDH之间存在关联，证实了这样的假设，即重复长度较短的聚集蛋白聚糖可导致椎间盘水合作用的生理蛋白聚糖功能降低，从而增加个体对LDH的易感性。
