Periodontitis, asociación con enfermedad cardiovascular isquémica / Periodontitis, association with ischemic cardiovascular disease

Objetivo. Determinar la asociación de la periodontitis con la enfermedad cardiovascular isquémica. Métodos. Estudio transversal, analítico de casos y controles. Del universo de 9 350 individuos, entre 35 y 70 años de ambos sexos, residentes en el municipio Plaza de la Revolución, que presentaban como mínimo seis dientes en boca y en su historia clínica médica resultados de análisis complementarios para detectar dislipidemia en los últimos seis meses. La muestra de 1 200 individuos se obtuvo de forma aleatoria simple, que otorgaron su consentimiento para participar. El grupo casos estuvo formado por 600 sujetos con diagnóstico médico de enfermedad cardiovascular isquémica durante los cinco años anteriores a la investigación y el grupo control por igual número de sujetos, sin este antecedente. Se parearon los grupos en relación a edad y sexo. Las variables estudiadas fueron: antecedentes de enfermedad cardiovascular isquémica en los últimos cinco años, presencia y gravedad de periodontitis, dientes perdidos por periodontitis y pérdida de inserción periodontal. La asociación entre la presencia de periodontitis con enfermedad cardiovascular isquémica, se empleó la odds ratio (OR), con intervalos de confianza al 95%. Se aplicó, además, el Ji cuadrado de independencia con un nivel de significación de 0,05. Resultados. Se observa una alta intensidad de asociación con la periodontitis (OR=4,07). en los casos, no así en los controles. Los casos también pre-sentaron mayor gravedad, dientes perdidos y pérdida de inserción que los controles. Conclusiones. Se detectó una fuerte asociación entre la periodontitis y la enfermedad cardiovascular isquémica.

Objective. Determine the association between periodontitis and ischemic heart disease.Methods. Cross-sectional, analytical case-control study. From the universe of 9,350 individuals between the ages of 35 and 70 years of both sexes, residents in the Plaza de la Revolution municipality, who had at least six teeth in the mouth and in their medical history the results of complementary tests to detect dyslipidemia In the last six months, a sample of 1,200 individuals who gave their consent to participate was selected by the simple random method. The case group consisted of 600 subjects with a medical diagnosis of ischemic cardiovascular disease during the five years prior to the investigation and the control group for the same number of subjects, without this antecedent. The groups were matched in relation to age and sex. The variables studied were: history of ischemic cardiovascular disease in the last five years, presence and severity of periodontitis, teeth lost due to periodontitis and loss of periodontal attachment. The association between the presence of periodontitis and ischemic cardiovascular disease, the odds ratio (OR) was used, with its corresponding 95% confidence intervals. In addition, the Chi square of independence was applied with a significance level of 0.05. Results. A high intensity of association with periodontitis is observed (OR = 4.07). in the cases, not so in the controls. The cases also presented greater severity, missing teeth and loss of attachment than the controls. Conclusions. A strong association between periodontitis and ischemic cardiovascular disease was detected in this study.

Identification and Analysis of Human Sex-biased MicroRNAs / 基因组蛋白质组与生物信息学报·英文版

Sex differences are widely observed under various circumstances ranging from physiological processes to therapeutic responses, and a myriad of sex-biased genes have been identified. In recent years, transcriptomic datasets of microRNAs (miRNAs), an important class of non-coding RNAs, become increasingly accessible. However, comprehensive analysis of sex difference in miRNA expression has not been performed. Here, we identified the differentially-expressed miRNAs between males and females by examining the transcriptomic datasets available in public databases and conducted a systemic analysis of their biological characteristics. Consequently, we identified 73 female-biased miRNAs (FmiRs) and 163 male-biased miRNAs (MmiRs) across four tissues including brain, colorectal mucosa, peripheral blood, and cord blood. Our results suggest that compared to FmiRs, MmiRs tend to be clustered in the human genome and exhibit higher evolutionary rate, higher expression tissue specificity, and lower disease spectrum width. In addition, functional enrichment analysis of miRNAs show that FmiR genes are significantly associated with metabolism process and cell cycle process, whereas MmiR genes tend to be enriched for functions like histone modification and circadian rhythm. In all, the identification and analysis of sex-biased miRNAs together could provide new insights into the biological differences between females and males and facilitate the exploration of sex-biased disease susceptibility and therapy.

PTMD: A Database of Human Disease-associated Post-translational Modifications / 基因组蛋白质组与生物信息学报·英文版

Various posttranslational modifications (PTMs) participate in nearly all aspects of biological processes by regulating protein functions, and aberrant states of PTMs are frequently implicated in human diseases. Therefore, an integral resource of PTM-disease associations (PDAs) would be a great help for both academic research and clinical use. In this work, we reported PTMD, a well-curated database containing PTMs that are associated with human diseases. We manually collected 1950 known PDAs in 749 proteins for 23 types of PTMs and 275 types of diseases from the literature. Database analyses show that phosphorylation has the largest number of disease associations, whereas neurologic diseases have the largest number of PTM associations. We classified all known PDAs into six classes according to the PTM status in diseases and demonstrated that the upregulation and presence of PTM events account for a predominant proportion of disease-associated PTM events. By reconstructing a disease-gene network, we observed that breast cancers have the largest number of associated PTMs and AKT1 has the largest number of PTMs connected to diseases. Finally, the PTMD database was developed with detailed annotations and can be a useful resource for further analyzing the relations between PTMs and human diseases. PTMD is freely accessible at http://ptmd.biocuckoo.org.

Mass spectrometry based proteomics profiling of human monocytes

Human monocyte is an important cell type which is involved in various complex human diseases. To better understand the biology of human monocytes and facilitate further studies, we developed the first comprehensive proteome knowledge base specifically for human monocytes by integrating both in vivo and in vitro datasets. The top 2000 expressed genes from in vitro datasets and 779 genes from in vivo experiments were integrated into this study. Altogether, a total of 2237 unique monocyte-expressed genes were cataloged. Biological functions of these monocyte-expressed genes were annotated and classified via Gene Ontology (GO) analysis. Furthermore, by extracting the overlapped genes from in vivo and in vitro datasets, a core gene list including 541 unique genes was generated. Based on the core gene list, further gene-disease associations, pathway and network analyses were performed. Data analyses based on multiple bioinformatics tools produced a large body of biologically meaningful information, and revealed a number of genes such as SAMHD1, G6PD, GPD2 and ENO1, which have been reported to be related to immune response, blood biology, bone remodeling, and cancer respectively. As a unique resource, this study can serve as a reference map for future in-depth research on monocytes biology and monocyte-involved human diseases.

Disease association and inter-connectivity analysis of human brain specific co-expressed functional modules

BACKGROUND: In the recent studies, it is suggested that the analysis of transcriptomic change of functional modules instead of individual genes would be more effective for system-wide identification of cellular functions. This could also provide a new possibility for the better understanding of difference between human and chimpanzee. RESULTS: In this study, we analyzed to find molecular characteristics of human brain functions from the difference of transcriptome between human and chimpanzee's brain using the functional module-centric co-expression analysis. We performed analysis of brain disease association and systems-level connectivity of species-specific co-expressed functional modules. CONCLUSIONS: Throughout the analyses, we found human-specific functional modules and significant overlap between their genes in known brain disease genes, suggesting that human brain disorder could be mediated by the perturbation of modular activities emerged in human brain specialization. In addition, the human-specific modules having neurobiological functions exhibited higher networking than other functional modules. This finding suggests that the expression of neural functions are more connected than other functions, and the resulting high-order brain functions could be identified as a result of consolidated inter-modular gene activities. Our result also showed that the functional module based transcriptome analysis has a potential to expand molecular understanding of high-order complex functions like cognitive abilities and brain disorders.

Contribuicao das moleculas de antigeno de histocompatibilidade leucocitaria (HLA) para a contratura de Dupuytren em uma populacao do Sudeste do Brasil / The contribution of HLA molecules to Dupuytren's contracture in a Southeast Brazilian population

Objetivo: O objetivo deste estudo foi investigar o fenótipo do HLA em pacientes com contratura de Dupuytren (CD) para verificar a correlação desses alelos com os fatores de risco para o desenvolvimento da CD na população brasileira. Métodos: Este foi um estudo de caso-controle de 25 pacientes com CD e 443 indivíduos saudáveis sem histórico de doenças associadas ao HLA. As tipagens classe I e classe II do HLA foram feitas utilizando o método iniciador de sequências específicas da reação em cadeia da polimerase. Resultados: O fenótipo HLA-B*18 foi observado em 32% dos pacientes e 10,5% do grupo controle. Contudo, os valores de p não permaneceram significativos após correção. Discussão: Apesar de termos observado um aumento na tendência de os pacientes com CD terem o alelo HLA-B*18, os resultados não foram estatisticamente significativos após correção. Esse alelo foi maior em pacientes de etnia italiana e/ou espanhola, locais com frequências superiores a 18% e 14%, respectivamente. São necessárias investigações adicionais com uma coorte maior de pacientes com CD para confirmar o possível papel do HLA nessa doença. .

Purpose: The aim of the present study was to investigate the HLA phenotype in Dupuytren's contracture (DC) patients in order to verify the correlation of these alleles with risk factors for development of DC in the Brazilian population. Methods: This was a case-controlled study of 25 DC patients and 443 healthy individuals with no history of HLA-associated diseases. HLA class I and class II typing was performed using the polymerase chain reaction sequence-specific primer method. Results: The HLAB*18 phenotype was observed in 32% of the patients and 10.5% of controls. However, P values did not remain significant after correction. Discussion: Although we observed an increased tendency of DC patients to possess the HLA-B*18 allele, the results were not statistically significant after correction. This allele was higher in patients of Italian and/or Spanish ethnicity, localities with frequencies higher than 18.0% and 14.0% respectively. Further investigation with a larger cohort of DC patients is required to confirm the potential role of HLA in this disease. .

HLA and Disease Associations in Koreans

The human leukocyte antigen (HLA), the major histocompatibility complex (MHC) in humans has been known to reside on chromosome 6 and encodes cell-surface antigen-presenting proteins and many other proteins related to immune system function. The HLA is highly polymorphic and the most genetically variable coding loci in humans. In addition to a critical role in transplantation medicine, HLA and disease associations have been widely studied across the populations world-wide and are found to be important in prediction of disease susceptibility, resistance and of evolutionary maintenance of genetic diversity. Because recently developed molecular based HLA typing has several advantages like improved specimen stability and increased resolution of HLA types, the association between HLA alleles and a given disease could be more accurately quantified. Here, in this review, we have collected HLA association data on some autoimmune diseases, infectious diseases, cancers, drug responsiveness and other diseases with unknown etiology in Koreans and attempt to summarize some remarkable HLA alleles related with specific diseases.

HapAnalyzer: Minimum Haplotype Analysis System for Association Studies

SUMMARY: HapAnalyzer is an analysis system that provides minimum analysis methods for the SNP-based association studies. It consists of Hardy-Weinberg equilibrium (HWE) test, linkage disequilibrium (LD) computation, haplotype reconstruction, and SNP (or haplotype)-phenotype association assessment. It is well suited to a case-control association study for the unrelated population.