Department of Dermatology, Jena University Hospital, Jena, Germany.
J Dent Res. 2013 Nov;92(11):1035-40. doi: 10.1177/0022034513504217. Epub 2013 Sep 9.
Chronic periodontitis (ChP) is a multifactorial disease influenced by microbial and host genetic variability; however, the role of beta-defensin-2 genomic (DEFB4) copy number (CN) variation (V) in ChP remains unknown. The association of the occurrence and severity of ChP and DEFB4 CNV was analyzed. Our study included 227 unrelated Caucasians, that is, 136 ChP patients (combined ChP) and 91 control individuals. The combined ChP group was subdivided into the severe ChP and slight-to-moderate ChP subgroups. To determine DEFB4 CNV, we isolated genomic DNA samples and analyzed them by relative quantitation using the comparative CT method. The serum beta-defensin-2 (hBD-2) level was determined via ELISA. The distribution pattern and mean DEFB4 CN did not differ significantly in combined ChP cases vs. the controls; however, the mean DEFB4 CN in the severe ChP group differed significantly from those for the control and slight-to-moderate ChP groups. Low DEFB4 CN increased the risk of severe ChP by about 3-fold. DEFB4 CN was inversely associated with average attachment loss. Mean serum hBD-2 levels were highest in the controls, followed by the slight-to-moderate ChP group and the severe ChP group. The results suggested an association between decreased DEFB4 CN and serum hBD-2 levels and periodontitis severity.
慢性牙周炎（ChP）是一种受微生物和宿主遗传变异性影响的多因素疾病；然而，β-防御素-2 基因组（DEFB4）拷贝数（CN）变异（V）在 ChP 中的作用尚不清楚。分析了 DEFB4 CNV 与 ChP 的发生和严重程度的相关性。我们的研究包括 227 名无关的白种人，即 136 名 ChP 患者（综合 ChP）和 91 名对照个体。综合 ChP 组进一步分为严重 ChP 和轻度至中度 ChP 亚组。为了确定 DEFB4 CNV，我们分离了基因组 DNA 样本，并通过相对定量使用比较 CT 法进行分析。通过 ELISA 测定血清β-防御素-2（hBD-2）水平。与对照组相比，综合 ChP 病例的 DEFB4 CN 分布模式和平均值没有显著差异；然而，严重 ChP 组的平均 DEFB4 CN 与对照组和轻度至中度 ChP 组有显著差异。低 DEFB4 CN 使严重 ChP 的风险增加约 3 倍。DEFB4 CN 与平均附着丧失呈负相关。血清 hBD-2 水平以对照组最高，其次是轻度至中度 ChP 组和严重 ChP 组。结果表明，DEFB4 CN 降低与血清 hBD-2 水平和牙周炎严重程度之间存在关联。
