Single nucleotide polymorphism(SNP)in genes of lupus:A Philippine study(SIGLA-PH)

Background:Systemic lupus erythematosus(SLE)is a complex prototypic autoimmune disease,with a prevalence of 20–150 per 100,000,most commonly affecting women at child-bearing age.Genome-wide association studies and fine mapping of candidate regions have paved the way for greater understanding of SLE as a disease of genetic–environmental susceptibility and the functions of the genes involved.Method:This study was conducted to determine the association of selected single nucleotide polymorphisms(SNPs)from established genomic databases based on theoretical risk and protective odds ratios>2.5 or<0.40)to susceptibility of developing SLE among Filipinos.Results:We analyzed data from 310 SLE patients and 318 controls.We identified eight significant SNPs namely rs9271100,rs9271366,rs9272105,rs9275328,rs2647087,rs12734338,rs17885098,and rs3883013 to be associated with an increased risk of developing SLE among Filipinos.Conclusion:Eight SNPs were found to be associated with the development of SLE among Filipinos.Similar to previous genetic studies in lupus patients,majority of the SNPs were found in the major histocompatibilty complex genes in the HLA region.Our study identified two unique SNPs that will be validated as potential diagnostic markers for SLE.The findings of this study may contribute to the development of a polygenic risk score in determining susceptibility to SLE among Filipinos.

Methods used in microbial forensics and epidemiological investigations for stronger health systems

This review discusses microbial forensics as an emerging science that finds application in protecting human health.It is important to distinguish naturally acquired infections from those caused by the intentional release of microorganisms to the environment.This information is crucial in formulating procedures against the spread of infectious diseases and prosecuting persons who may be involved in acts of biocrime,bioterrorism,or biowarfare.A comparison between epidemiological investigations and microbial forensic investigations is provided.In addition,a discussion on how microbial forensics strengthens health systems is included in this review.Microbial forensic investigations and epidemiologic examinations employ similar concepts and involve identifying and characterising the microbe of interest.Both fields require formulating an appropriate case definition,determining a pathogen’s mode of transmission,and identifying the source(s)of infection.However,the two subdisciplines differ in their objectives.An epidemiological investigation aims to identify the pathogen’s source to prevent the spread of the disease.Microbial forensics focuses on source-tracking to facilitate the prosecution of persons responsible for the spread of a pathogen.Both fields use molecular techniques in analysing and comparing DNA,gene products,and biomolecules to identify and characterise the microorganisms of interest.We included case studies to show methods used in microbial forensic investigations,a brief discussion of the public significance of microbial forensic systems,and a roadmap for establishing a system at a national level.This system is expected to strengthen a country’s capacity to respond to public health emergencies.Several factors must be considered in establishing national microbial forensic systems.First is the inherent ubiquity,diversity,and adaptability of microorganisms that warrants the use of robust and accurate molecular typing systems.Second,the availability of facilities and scientists who have been trained in epidemiology,molecular biology,bioinformatics,and data analytics.Human resources and infrastructure are critical requirements because formulating strategies and allocating resources in times of infectious disease outbreaks must be data-driven.Establishing and maintaining a national microbial forensic system to strengthen capacities in conducting forensic and epidemiological investigations should be prioritised by all countries,accompanied by a national policy that sets the legislative framework and provides for the system’s financial requirements.

Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene

Background:Previously rare A2ML1 variants were identified to confer otitis media susceptibility in an indigenous Filipino community and in otitis-prone US children.The goal of this study is to describe differences in the middle ear microbiome between carriers and non-carriers of an A2ML1 duplication variant that increases risk for chronic otitis media among indigenous Filipinos with poor health care access.Methods:Ear swabs were obtained from 16 indigenous Filipino individuals with chronic otitis media,of whom 11 carry the A2ML1 duplication variant.Ear swabs were submitted for 16S rRNA gene sequencing.Results:Genotype-based differences in microbial richness,structure,and composition were identified,but were not statistically significant.Taxonomic analysis revealed that the relative abundance of the phyla Fusobacteria and Bacteroidetes,and genus Fusobacterium were nominally increased in carriers compared to non-carriers,but were non-significant after correction for multiple testing.We also detected rare bacteria including Oligella that was reported only once in the middle ear.Conclusions:These findings suggest that A2ML1-related otitis media susceptibility may be mediated by changes in the middle ear microbiome.Knowledge of middle ear microbial profiles according to genetic background can be potentially useful for therapeutic and prophylactic interventions for otitis media and can guide public health interventions towards decreasing otitis media prevalence within the indigenous Filipino community.