RESUMEN
Chronic periodontitis (CP) is the common form of inflammatory oral disease. Matrix metalloproteinases (MMPs) play a pivotal role in the progression of CP by degrading gingival tissue and its remodelling. Here, we conducted a case–control study to investigate a possible association of single-nucleotide polymorphism of MMP genes and their interaction with CP in the Indian population. A total of 357 DNA samples of venous blood was isolated, of which 157 were identified as CP patients and 200 were healthy individuals. Genotyping of six MMP genes (MMP1, MMP3, MMP7, MMP8, MMP12 and MMP13) was done using polymerase chain reaction following Sanger’s method of sequencing. Statistical analyses were performed by SPSS v16.0, R package (SNPassoc). Gene–gene interactions were evaluated by MDR 3.0.2. The frequency of 6A allele of MMP3 −11715A-6A gene polymorphisms (36%) and G allele of MMP8 +17G-C gene polymorphisms (34%) were higher in the CP population compared with the healthy population (19% and 24%, respectively). A significant association of T allele of MMP8 −799C-T gene promoter polymorphism was found with CP (OR = 2.95, 95%CI = 2.16 − 4.04, P < 0.0001). Genotypic frequency of MMP12 −82A-G polymorphism is associated with CP risk while its allelic distribution is not (OR = 1.32, 95%CI = 0.93 − 1.88, P = 0.129). Gene–gene interactions show the best cross validation consistency model, i.e. MMP1 −519A-G X MMP7 −181A-G X MMP8 −799C-T polymorphismswith a value of 9/10. This gene–gene interaction shows that the significant association of MMP8 −799C-T polymorphism with CP increased susceptibility. Allelic distribution of MMP8+17G-C and MMP3−11715A-6A polymorphisms revealed their protective role towards decreased risk of CP. MMP1 −519A-G and MMP7 −181A-G polymorphisms show combinatorial synergistic effect on CP risk.
RESUMEN
Abstract Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin −1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mothers giving birth to Down syndrome children. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of nondisjunction and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms. The control group consisted of 186 mothers of karyotypically normal children. The frequencies of the PSEN-1 T allele and TT genotype, in the presence of the APOE ε4 allele, were significantly higher among young mothers (< 35 years) with meiosis II nondisjunction than in young control mothers (96.43% vs. 65.91% P = 0.0002 and 92.86% vs. 45.45% P < 0.0001 respectively) but not among mothers with meiosis I nondisjunction. We infer that the co-occurrence of the PSEN-1 T allele and the APOE ε4 allele associatively increases the risk of meiotic segregation error II among young women.
RESUMEN
A 28 year old male presented with a 8 months history of chest pain, cough and breathlessness. CT scan revealed a large mass in right anterior mediastinum showing fat and soft tissue attenuation. Histopathology of the resected mass revealed a tumour showing extensive areas of mature fat and relatively less interspersed thymic tissue confirming thymolipoma. Because of its rarity, we are presenting this case with a brief review of literature.