Gülden Norbert, Eggermann Thomas, Zerres Klaus, Beer Michael, Meinelt Anica, Diedrich Peter
Department of Orthodontics, RWTH Aachen University, Aachen, Germany.
J Orofac Orthop. 2009 Jan;70(1):20-38. doi: 10.1007/s00056-009-8808-6. Epub 2009 Feb 5.
Recent papers have discussed genetic predisposition for root resorption. The aim of this study was to investigate this kind of relationship as dependent on the EARR phenotype. Alleles from IL-1A and IL-1B gene polymorphisms are discussed as genetically predisposing factors.
Orthopantomograms (OPG) exhibiting EARR (n = 96) were metrically and statistically analyzed for expression and were compared to a control group (n = 162). Additionally, the percentage of affected teeth per individual was determined. A subgroup of the EARR patient sample (n = 49) was assessed, based on blood analyses, for an association with genomic IL-1A (-889) and IL-1B (+3954) polymorphism.
In the case of the IL-1A variation, a significant difference of genotype distribution was found between EARR patients and the control group: genotype 2-2 could be seen significantly more frequently in the EARR group. Furthermore, the extent of resorption grades seemed to be influenced by the genetic constitution. The genotype distribution of the IL-1B polymorphism was comparable to the distribution in the control sample. In particular, allele 1 of the IL-1B polymorphism, which has been described as being associated with family histories of EARR, was observed less frequently in the patient cohort than in the control group.
The available data of the IL-1A polymorphism point to an association of the genotype 2-2 with EARR. As analyses of individual subgroups showed, with the increase in the extent of EARR there was a recognizable correlation with genotype 2-2. The genotype distribution of the IL-1B polymorphism in patients and control cohorts revealed no indication of a predisposition. Despite the low number of cases in the own cohort, the data collected revealed that the allele 1 of the IL-1B polymorphism in patients with sporadic EARR did not contribute to predisposition, in contrast to familial cases. The results are an initial basis for pre-orthodontic genetic EARR risk analyses.
近期的论文探讨了牙根吸收的遗传易感性。本研究的目的是研究这种关系是否依赖于耳源性牙根吸收（EARR）表型。白细胞介素-1A（IL-1A）和白细胞介素-1B（IL-1B）基因多态性的等位基因被作为遗传易感因素进行讨论。
对显示EARR的曲面断层片（OPG）（n = 96）进行测量和统计学分析以观察其表达情况，并与对照组（n = 162）进行比较。此外，确定每个个体中患牙的百分比。基于血液分析，对EARR患者样本的一个亚组（n = 49）进行评估，以确定其与基因组IL-1A（-889）和IL-1B（+3954）多态性的关联。
就IL-1A变异而言，EARR患者与对照组之间在基因型分布上存在显著差异：在EARR组中基因型2-2出现的频率明显更高。此外，吸收程度似乎受遗传构成的影响。IL-1B多态性的基因型分布与对照样本中的分布相当。特别是，IL-1B多态性的等位基因1，已被描述为与EARR家族史相关，在患者队列中的观察频率低于对照组。
IL-1A多态性的现有数据表明基因型2-2与EARR有关。如对各个亚组的分析所示，随着EARR程度的增加，与基因型2-2存在明显的相关性。患者和对照队列中IL-1B多态性的基因型分布未显示出易感性迹象。尽管本队列中的病例数较少，但收集到的数据显示，与家族性病例相比，散发性EARR患者中IL-1B多态性的等位基因1对易感性没有影响。这些结果是正畸前遗传EARR风险分析的初步基础。
