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

采用入侵者方法进行多态分析(病例对照研究)。采集12家医院622份血样，其中侵袭性牙周炎(AGP)172例，对照组178例，慢性牙周炎(CP)147例，对照组125例。AGP组与对照组比较，FcaR56T/C和MMP3(-1171)5A/6A(-/T)有显著差异。CP组与对照组比较，IL-1(+4845)G/T差异有统计学意义，SNPs在基因分布和等位基因频率上均无差异。有必要进一步研究以澄清这些问题。另一方面，从研究者的实验室获得了关于SNPs的几个有趣的结果如下。1)在牙周过度生长患者中，存在a2整合素+807基因多态性，提示+807C等位基因是药物所致牙龈过度生长的遗传危险因素之一。2)在日本人群中，FcyIIA刺激型和FcyRIIB抑制型的结合可能增加SLE和牙周炎的易感性。3)唾液中AST、ALT和LDH水平反映了牙周组织的炎症和破坏情况，提示IL-1A+4845等位基因可能不影响临床参数，是牙周治疗后临床有用的指标。4)突变的(A115V)TNSALP基因产生缺陷性碱性磷酸酶，可通过隐性传递，成为成人型低磷酸盐血症的致病突变；5)甘露糖结合凝集素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摘除。(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)