Bei Thalia, Tilkeridis Constantinos, Garantziotis Stavros, Boikos Sosipatros, Kazakos Konstantinos, Simopoulos Constantinos, Stratakis Constantine
Democritus University of Thrace, Alexandroupolis, Greece.
Hormones (Athens). 2008 Jul-Sep;7(3):251-4. doi: 10.14310/horm.2002.1205.
We recently reported the association of the Sp1 site polymorphism of the COL1A1 gene with lumbar disk disease (LDD). In the present study we searched for a different polymorphism of the COL1A1 gene (which is usually not in linkage disequilibrium with the Sp1 site) in subjects with LDD.
Blood was collected from 24 Greek army recruits, aged 29+/-7.6 years, with LDD, and 66 healthy men, aged 26+/-4.38 years, matched for body mass index (BMI) and age, with normal BMD and with no history of trauma or fractures, who served as controls. DNA was extracted and the COL1A1 gene was sequenced. Of the control subjects, 12 were army recruits and 54 were selected from the general population.
The four base-pair insertion polymorphism in the COL1A1 gene analyzed by polymerase chain reaction amplification of DNA produces two different fragments (alleles A1 and A2): 14 patients (58.3%) were homozygous for A2A2, versus 35 controls (53%), while 3 patients (12.5%) were A1A1, and 8 of the control subjects (12%) had this genotype. There were no statistically significant differences in the presence of the two alleles of this polymorphism between patients with LDD and control subjects.
A four base-pair insertion polymorphism of the COL1A1 gene is not associated with the presence of LDD in young males, unlike the Sp1 site polymorphism of the same gene. These data reinforce the association between LDD and the functional polymorphisms of the Sp1 site by showing that other polymorphic sites of the of the COL1A1 gene in the same population of patients are not linked to the disease.
我们最近报道了COL1A1基因的Sp1位点多态性与腰椎间盘疾病（LDD）的关联。在本研究中，我们在LDD患者中寻找COL1A1基因的另一种多态性（其通常与Sp1位点不存在连锁不平衡）。
采集了24名年龄为29±7.6岁、患有LDD的希腊新兵以及66名年龄为26±4.38岁、体重指数（BMI）和年龄相匹配、骨密度正常且无创伤或骨折史的健康男性的血液，后者作为对照。提取DNA并对COL1A1基因进行测序。在对照受试者中，12名是新兵，54名是从普通人群中选取的。
通过DNA聚合酶链反应扩增分析的COL1A1基因中的四个碱基对插入多态性产生了两种不同的片段（等位基因A1和A2）：14名患者（58.3%）为A2A2纯合子，而对照中有35名（53%）；3名患者（12.5%）为A1A1，8名对照受试者（12%）具有这种基因型。LDD患者和对照受试者之间这种多态性的两个等位基因的存在没有统计学上的显著差异。
与同一基因的Sp1位点多态性不同，COL1A1基因的四个碱基对插入多态性与年轻男性LDD的存在无关。这些数据通过表明同一患者群体中COL1A1基因的其他多态性位点与疾病无关，加强了LDD与Sp1位点功能多态性之间的关联。
