International journal of molecular epidemiology and genetics最新文献

Oral submucous Fibrosis (OSMF) is a chronic disease that mainly affects the upper part of the aerodigestive tract. Areca nut and betel quid chewing has been established as the most significant causative factor for this condition. While OSMF is a predominantly Asian disease, the migrant populations from the region have taken the disease across the globe. Additionally, areca nut is now easily accessible in flavors and aggressively marketed. Many research activities have been undertaken for decades to understand the etiopathogenesis and risk factors of OSMF. Although OSMF is a slowly progressing disease, it has the potential to transform to an oral malignancy. This article is an attempt to review the literature and provide an update on its prevalence, etiopthogenesis and its diagnosis. We also highlight certain clinical, histopathological and molecular features that aid in the diagnosis and prognostication of OSMF, highlighting the importance of identifying the possibly high risk OSMF that is prone to malignant transformation. Using this information, future directions can be developed to include treatmentof OSMF through a dynamic gene-specific approach.

The COVID-19 pandemic has revealed the susceptibility of certain populations to RNA virus infection. This variety of agents is currently the cause of severe respiratory diseases (SARS-CoV2 and Influenza), Hepatitis C, measles and of high prevalence tropical diseases that are detected throughout the year (Dengue and Zika). The rs10774671 polymorphism is a base change from G to A in the last nucleotide of intron-5 of the OAS1 gene. This change modifies a splicing site and generates isoforms of the OAS1 protein with a higher molecular weight and a demonstrated lower enzymatic activity. The low activity of these OAS1 isoforms makes the innate immune response against RNA virus infections less efficient, representing a previously unattended risk factor for certain populations.

Objective: Determine the distribution of rs10774671 in the open population of Mexico.

Methods: In 98 healthy volunteers, allelic and genotypic frequencies were determined by qPCR using allele specific labeled probes, and the Hardy-Weinberg equilibrium was determined.

Results: The A-allele turned out to be the most prevalent in the analyzed population.

Conclusions: Our population is genetically susceptible to RNA virus disease due to the predominant presence of the A allele of rs10774671 in the OAS1 gene.

This study was performed to investigate published literature about the association between measles, mumps, and rubella (MMR) vaccine and COVID-19. This is a systematic review in which the databases of Chocrane, Pubmed, Scopus, Web of Science as well as reliable journals including Lancet, New England Journal of Medicine, Jama and also Centers for Disease Control and Prevention (CDC) publications were searched.Out of 169 documents discovered during the literature review, 56 ones were somehow related to the association between MMR vaccine and COVID-19, of which 11 ones mentioned the association between these two, and 8 of them contained a hypothesis about this relationship. A quasi-trial study reported the positive effect of the MMR vaccine on reducing the severity of COVID-19 symptoms among those who received it. Also, a cross-sectional study showed an association between the level of Immunoglobulin G (IgG) mumps and COVID-19. Moreover, a genomic data analysis study also reported the effect of Rubella Immunoglobulin G (IgG) level on COVID-19. It seems that due to the similarity of respiratory diseases including measles, rubella, and mumps to COVID-19, MMR vaccine should be investigated more deeply to see if it is effective in order to deal with this novel disease.

Background: Arterial hypertension (AH) is implicated in vascular health and contributes significantly to cardiovascular morbidity and mortality. In addition to the contribution of usual risk factors for AH, elucidating the influence of genetic factors is a promising area of investigation. Therefore, we evaluated the association between AH and cardiovascular risk factors (CVRFs) and genetic polymorphisms in communities in Southeast Brazil.

Methods: A total of 515 adults aged 18-91 years, who were cross-sectionally assessed between 2015-2016, were included. Demographic, clinical, behavioral, anthropometric characteristics, and laboratory parameters and 12 single nucleotide polymorphisms in seven candidate genes involved in cardiovascular risk (RARRES2, AGT, NOS3, GNB3, APOE, APOB, APOC3, LDLR, and PPARG) were evaluated, with AH as the outcome. Sex, age, and laboratory parameters were considered the main confounding factors.

Results: There was a significant association between age >60 years (odds ratio [OR] =6.74), alcohol dependence (OR=3.84), smoking (OR=1.74), overweight (OR=1.74), high plasma triglyceride (TG) levels (OR=1.98) and low high-density lipoprotein (HDL-c) (OR=6.22), diabetes (OR=3.68), and insulin resistance (OR=2.40) and AH. A significant association was observed between rs4721 in RARRES2 and AH. The T allele in homozygosis was a potent chance modifier for AH. The highest chance gradients for AH were characterized by the presence of the TT genotype and DMT2 (OR=9.70), high TG (OR=6.26), low HDL-c (OR=8.20), and age more than 60 years (OR=9.96).

Conclusion: The interaction of the T allele of the rs4721 polymorphism in RARRES2 with CVRFs may predispose carriers to a higher cardiovascular risk.

Asthma is a complex genetic disease. Vitamin D and vitamin D receptor (VDR) gene polymorphisms are involved in asthma pathogenesis. However, accurate inflammatory mechanisms and their role in VDR gene polymorphisms are unclear. The objective of this study was to investigate the association of VDR gene polymorphisms, ApaI, FokI, TaqI, and BsmI with asthma as compared to controls. Children (age 5-15 years) with a history of respiratory symptoms (wheeze, shortness of breath and chest tightness) were recruited as cases. Age matched children admitted with central nervous system disorders (encephalitis/seizures) without any respiratory complaints were recruited as controls after parental consent. Children with a clinical diagnosis of cystic fibrosis, congenital heart disease and whose parents did not consent for participation in the study were excluded. VDR gene polymorphisms were genotyped using PCR-RFLP method. One hundred and sixty asthmatics and one hundred controls were enrolled in this study. Mean age of the cases was 103.29±32.7 months and controls 94.24±30.52 months. Children with heterozygous (AC) genotype [OR=1.83, 95% CI=1.01-3.32, p=0.046] of ApaI polymorphism were found to be associated with the risk of asthma. Our findings suggest that ApaI polymorphism of VDR gene may contribute to asthma susceptibility among children.

Background: Sexually transmitted diseases (STD) are caused by a variety of pathogens transmitted by sexual activity. Untreated infections can cause major complications with a substantial high cost on health sector. With the development of molecular techniques, STD screening became easier with a high sensitivity and specificity.

Objectives: In Lebanon, official data regarding STD trends are scarce. This study elucidates the STD molecular profile at a tertiary care center, American University of Beirut Medical Center (AUBMC), its distribution among gender and age groups, with a comparison to international studies.

Methods: A retrospective data analysis was conducted on all STD panels performed at AUBMC from January 2017 till December 2019 to determine the molecular prevalence of eight different sexually transmitted organisms.

Results: Our samples belonged to 248 females (41.5%) and 349 males (58.5%). Only 53.5% of the samples tested positive for one or more organisms. Ureaplasma urealyticum/parvum was found to be the most common pathogen (49.3%), followed by Gardenerella vaginalis (33.5%), Chlamydia trachomatis (5.36%), Mycoplasma genitalium (5.16%), Neisseria gonorrhea (2.5%), Herpes simplex virus (2.5%), and Trichomonas vaginalis (1.39%). Age was distributed between 5 and 80 years old. Regarding the pathogen's distribution among gender, Ureaplasma urealyticum/parvum, Herpes simplex virus, and Gardenerella vaginalis were more common in females, the rest was more detected in males.

Conclusion: Data will be of great importance for clinicians, in terms of diagnosis and treatment. It will help adopting an evidence based STI control programs in Lebanon, and it is essential for future larger studies and sexual health awareness programs.

Suriname is on track to eliminate local malaria transmission. P. vivax malaria reemerged in March and September 2019 in the Amerindian village Palumeu, free of malaria for two years and concurrently, a case was reported in another village Alalaparoe. The outbreaks were contained through targeted interventions including Mass Drug Administration (MDA). Molecular outbreak analysis was performed on 23 dried blood spots (DBS) using combined polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) with Pvmsp-1 F2 and Pvmsp-3α as polymorphic marker genes. Independent controls substantiated the discriminating capacities of the utilized PCR-RFLP method. All isolates from the first and second Palumeu outbreak shared a distinctive haplotype presuming single clonal lineage. An imported case probably triggered the first outbreak, while a delayed episode, prompted by withdrawal of drug pressure at the end of the prophylactic MDA, was suggested as source of the second outbreak. A diverging variant was demonstrated in Alalaparoe, implicating an infection from a different source. PCR-RFLP proved to be a useful molecular tool for P. vivax outbreak management in low endemic malaria settings.

Community-acquired pneumonia (CAP) is a leading cause of death in children under five years of age globally. Currently, the vitamin D receptor (VDR) gene is an emerging factor that regulates inflammatory pathways that may alter the response to infections and possibly modify the outcome of CAP. The objective of this study was to investigate the association of VDR gene polymorphisms ApaI, FokI, TaqI, BsmI with CAP in children aged 2-59 months. Hospitalized children aged (2-59 months) with WHO-defined CAP were included as cases after parental consent. Age-matched healthy controls were recruited from the immunization clinic of the hospital within one week of the recruitment of the case. Children with a clinical diagnosis of cystic fibrosis and congenital heart disease were excluded. Four VDR gene polymorphisms, ApaI, FokI, TaqI, BsmI were genotyped by using PCR-RFLP. From Oct-2016 to Oct-2019, 160 cases (34.37% females) and 160 controls (47.5% females) were recruited. Mean age of the cases was 26.30±23.10 months and controls 25.93±15.99 months. In FokI (rs2228570 polymorphism, heterozygous genotype (CT) [OR=2.06, 95% CI=1.25-3.39, P=0.00] and mutant allele (T) [OR=1.45, 95% CI=1.06-2.00, P=0.02] were found to be associated with the risk of CAP. In VDR gene, FokI polymorphism predisposes to CAP in Indian children.

Objective: Chronic obstructive pulmonary disease (COPD) is a common respiratory disease characterized by the persistent airflow obstruction. Chrysophanol, an anthraquinone derivative isolated from the rhizomes of Rheum palmatum, has been reported to be protective for some inflammatory diseases. The present report aimed to dissect its effect on cigarette smoke extract (CSE)-induced apoptosis in 16HBECs, a human bronchial epithelial cell line.

Methods: CCK8 cell viability assay was conducted to evaluate the protective effect of chrysophanol on 16HBECs after CSE induction. Western blot analysis, Annexin V/PI staining and TUNEL assay were conducted to test the effect of chrysophanol on 16HBECs apoptosis induced by CSE. Then the western blot assay measured associated molecular pathways to dissect the mechanisms underlying protective effect of chrysophanol on 16HBECs.

Results: Chrysophanol protects 16HBECs against CSE-induced apoptosis in a dose dependent manner. Specifically, pre-treatment of 16HBECs with 20 mmol/l of chrysophanol, reduced CSE-induced apoptosis by almost 10%. Mechanistically, chrysophanol manifested high potency to attenuate CSE-induced expression of apoptotic markers, Bax and cleaved caspase 3. In particular, chrysophanol not only represses CSE-induced oxidative stress by inhibiting CYP1A1 expression, but also suppresses CSE-induced ER stress by inhibiting pPERK, ATF4 and ATF6 expression.

Conclusion: Chrysophanol showed protective effect on CSE-induced epithelial injuries in cell line 16HBECs. And our data support that chrysophanol could be employed to reduce the toxicity of cigarette smoke in bronchial epithelial cells, which may have the potential to decrease the risk for developing COPD in smoking subjects.

Hepatitis B virus (HBV) infection is a common cause of chronic liver disease and is responsible for HBV-related deaths due to cirrhosis and HCC. It is well recognized that viral genotypes play an important role on the outcome of HBV infection. Ten HBV genotypes have been identified and the prevalence varies geographically. A hospital-based cross-sectional study was conducted to determine the association of HBV genotypes with the clinical profile of CHB patients. PCR-RFLP was performed to identify HBV genotypes. In this study, majority (70%) of patients were males; with ages between 22 to 67 years with a mean of 42.5 years. The ALT ranged from 23 to 111 U/L (mean 72.5 U/L). HBV DNA levels varied from less than 6 to more than 110,000,000 IU/ml. Forty-seven percent of the patients had chronic active hepatitis at the time of diagnosis. Of these, 36% were HBeAg positive while 64% were HBeAg negative. Inactive HBsAg carrier was found in 53% of cases. No significant association was established between HBV genotypes and fibrosis. PCR-RFLP analysis showed that 57%, 10%, and 13% of the samples belonged to HBV/A, HBV/B, and HBV/C, respectively and the remaining 20% had non-detectable HBV genotype. HBV/D to HBV/J were not observed in this study. Taken together, the patient's clinical profile such as sex, ALT levels, HBeAg status, HBV DNA levels and liver histology were not found to be significantly associated with HBV genotypes. A large-scale longitudinal study examining multiple HBV strains are needed to determine significant correlation of clinical profile.