Diagnostic approaches by a susceptibility determination based on gene polymorphism in Japanese periodontitis patients.

使用入侵者方法进行多态性分析（病例对照研究）。从12家医院收集了622份血液样本：172例侵袭性牙周炎（AgP）和178例对照，147例慢性牙周炎（CP）和125例对照。当比较AgP和对照组时，在FcaR 56 T/C和MMP-3（-1171 5A/6A（-/T）中检测到显著差异。CP组与对照组比较，IL-1（+4845）G/T有显著性差异。在这些SNPs中，没有SNPs显示基因分布和等位基因频率的差异。有必要进一步检查以澄清这些问题。另一方面，从研究者的实验室获得了如下关于SNP的几个有趣的结果。1)在牙龈增生患者中发现整合素α 2基因+807位点多态性，提示+807C等位基因是药物性牙龈增生的遗传危险因素之一。2)刺激性Fc γ IIA和抑制性Fc γ RIIB基因型的组合可能增加日本人群对SLE和牙周炎的易感性。3)唾液AST、ALT和LDH水平反映牙周组织的炎症和破坏，提示牙周治疗后的临床有用的标志物，但IL-1A+4845等位基因可能不影响临床参数。4)TNSALP基因突变（A115 V）产生的碱性磷酸酶缺陷型可通过遗传途径传播，是成人型低磷酸酶症的致病突变。5）甘露糖结合凝集素（MBL）基因突变和吸烟可能通过基因-环境相互作用参与侵袭性牙周炎的发病。(229字）

Polymorphism analyses using the invader method were performed (case control studies). From 12 hospitals, 622 blood samples were collected : 172 aggressive periodontitis (AgP) and the 178 controls, and 147 chronic periodontitis (CP) and the 125 controls. When AgP and the controls was compared, significant differences were detected in FcaR56T/C and MMP-3(-1171)5A/6A(-/T). When CP and the controls was compared, significant differences were detected in IL-1(+4845)G/T. In these SNPs, there were no SNPs showing both differences concerning gene distribution and allele frequencies. Further examinations are necessary to clarify these points. On the other hand, several interesting results concerning SNPs were obtained from the investigator's laboratories as follows. 1) In gingival overgrowth patients, a2 integrin +807 polymorphism was found, indicating the +807C allele is one of the genetic risk factors for drug-induced gingival overgrowth. 2) The combination of stimulatory FcyIIA and inhibitory FcyRIIB genotypes may increase susceptibility to SLE and periodontitis in the Japanese population. 3) Salivary AST, ALT and LDH levels reflect inflammation and destruction of periodontal tissue, suggesting the clinical useful markers following periodontal therapy but IL-1A+4845 alleles may not influence clinical parameters. 4) The mutant (A115V) TNSALP gene produced the defective alkaline phosphatase enzyme and it could be recessively transmitted and be a disease-causing mutation of the adult-type hypophosphatasia 5) Mannnose-binding lectin (MBL) gene mutation and smoking would be involved in the excerbation of aggressive periodontitis, via gene-environmental interaction. (229 words)