International Journal of Molecular Epidemiology and Genetics

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...

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...

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...

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...

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...

CYP2C9 gene encodes an enzyme involved in the metabolism of a wide variety of drugs which include celecoxib. This study investigated the frequencies of the alleles and genotypes of CYP2C9*1 , CYP2C9*2 , and CYP2C9*3 among Filipinos who underwent surgery, and to determine the association of CYP2C9 polymorphisms with post-operative pain relief via COX-2 inhibitors. Response to celecoxib was determined using the numerical rating scale (0-10) on the 24th and 48th hour of surgery. The CYP2C9 alleles were detected by real-time PCR...

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...

Triple negative breast cancer account for 10% to 20% of all newly diagnosed breast cancer cases, this subtype is well known for its lack of estrogen, progesterone and HER2 expression unlike the other subtypes of breast cancer that usually express at least one of the three. The absence of a specific biomarker for TNBC has made his treatment very challenging and his death rates very high compared to the other subtypes. Therefore, in morocco, many studies have been conducted in the hope of finding a specific biomarker for TNBC, but none of these studies has analyzed the EGFR protein expression and its gene molecular profile and correlated the EGFR analyses results with the genetic profile of other genes...

BACKGROUND: Tuberculosis (TB) is caused by Mycobacterium tuberculosis complex (MTBC) and remains a serious global public health threat, especially in resource-limited settings such as the African region. Recent developments in molecular epidemiology tools have significantly improved our understanding of TB transmission patterns and revealed the high genetic diversity of TB isolates across geographical entities in Africa. This study reports the results of a systematic review of current knowledge about MTBC strain diversity and geographical distribution in African regions...

Studies have shown association of lipoprotein lipase (LPL) polymorphisms with coronary artery disease (CAD); however, limited studies on the genetics of CAD have been done in the Philippines. Because of their effects on high-density lipoprotein and triglyceride metabolism, the G-allele of the Ser447X variant of LPL gene has been shown to be atheroprotective, while Hind III polymorphism has been shown to be pro-atherogenic. We assessed 1301 patients undergoing coronary angiography to determine the prevalence of Hind III and Ser447X polymorphisms and their association with angiographically significant CAD...

Cigarette smoking can increase the risk of many respiratory and chronic systemic diseases. Particularly, cigarette smoke produces toxic particulate matter (PM), which is harmful to the smokers. Although previous studies have demonstrated the toxicity of cigarette smoke PM and its relationship with disease pathogenesis, systematic data for the impact of cigarette smoke PM on physical activity and metabolism in animals are still lacking. In this report, the C57/B6 mice were exposed to cigarette smoke PM in a smoking chamber coupled with the analysis of metabolic changes and physical activity in metabolic cages at indicated time, for a period up to 12-month-old of age...

This study aims to investigate alleles of the human apolipoprotein E (APOE) and of the angiotensin-converting enzyme (ACE) genes as risk factors for poor quality of sleep in elderly individuals with no major cognitive decline. This cross-sectional, analytical study was conducted with 163 participants aged 75 years in average and 85% female. Sociodemographic, anthropometric and clinical data were gathered, and sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI) and the Epworth scale, with patient followed for years prior to these evaluations to rule out onset of major mental disorders...

NPHP1 is the most prevalent genetic factor in the development of juvenile nephronophthisis (NPHP). In our previous study, NPHP1 homozygous point mutations were detected by Sanger sequencing in three cases from two nonconsanguineous pedigrees. However, mutant sites were detected in only one parent from each respective pedigree. To investigate whether other disease-causing mutations were present, targeted exome sequencing (TES) of 63 ciliopathy genes was performed in the probands of the two pedigrees. In addition to the previously detected point mutations, a complete heterozygous deletion of NPHP1 (1-20 exons) in the other allele was found in each of the three patients...

BRCA1 gene mutation increases risk of hereditary breast/ovarian carcinogenesis. Calcium propionate is the food preservative. Superoxide dismutase enzyme protects oxidative stress in human. This report studied about the effects of 3300 del A-1061 Ter BRCA1 mutation at exon 11 and calcium propionate toxicity on parameters of oxidative stress induction and cause of breast cancer. The effects of 3300 del A-1061 Ter BRCA1 frameshift mutation on oxidative stress protection were studied by MTT dye reduction assay and superoxide dismutase activity assay...

In recent years, cardiovascular diseases (CVDs) have become a focus topic and global concern. There have been mixed reports on the relationship between whole grain or cereal fiber intake and the risk of type 2 diabetes. To evaluate whole grain or cereal intake on the risk of type 2 diabetes, we collected related literature on the relationship between whole grain or cereal fiber intake and the risk of type 2 diabetes. Methods: Eligible studies were identified from PubMed, Web of Science, and EBSCO (from 2007 to 2015)...

Acute respiratory tract infections are common worldwide and caused by a great diversity of pathogens. A rapid and accurate diagnosis method of respiratory infection is crucial for timely clinical intervention. Here, by combining fluorescence melting curve analysis and multiplex real-time assay, we developed a novel method which can simultaneously detect 15 respiratory viruses. The specificity for target genes was 100%, as assessed with a panel of 47 respiratory pathogens, which indicated no cross-reactions...

The T-cell response and tolerance in non-lymph tissues differs from those in lymph tissues such as the spleen and thymus. The distribution and composition of the TCR repertoires in non-lymph tissues and how they differ and associate with their counterparts in lymph tissue remain unclear. Thus, we studied the thymus, spleen, blood, liver and small intestine of BALB/c mice at the ages of one, three and five months to carry out a preliminary analysis of the spatial-temporal homogeneity and heterogeneity of the total TCR β chain CDR3 repertoire using high-throughput sequencing technology and immune bioinformatics approaches...

BACKGROUND: In genome-wide studies, there is a strong association between the TMPRSS6 allele A736V (rs855791) and significantly lower levels of serum iron, transferrin saturation, haemoglobin, and mean corpuscular volumes. The influence of this genetic variant on susceptibility to iron deficiency anaemia (IDA) in chronic kidney disease (CKD) patients is unknown. METHODS: In this cross-sectional study, we measured the full blood count and TMPRSS6 T>C polymorphism in black adult participants (n=260) with CKD and healthy controls (n=146) at the Charlotte Maxeke Johannesburg Academic Hospital, South Africa...

INTRODUCTION: Tuberculosis (TB) is a foremost infectious disease in most parts of the world. Globally, tuberculosis is the second-leading cause of infectious diseases. This has become a significant world-wide social and public health issue, and one of the major diseases in China. In addition to environmental risk factors, genetic factors may play an important role in the development of tuberculosis. METHODS: We conducted a case-control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs): MBL2 rs1800450 C > T, MBL2 rs7095891 G > A and MBL2 rs7096206 C > G, and their influences on the development of tuberculosis...

AIMS: To investigate the distribution of vitamin D receptor fokI gene polymorphism in Yunnan Han population, and to explore the relationship between SNP of fokI and type 2 diabetic kidney disease. METHODS: We included 276 individuals of Han population of Yunnan in this study: 91 type 2 diabetes patients without kidney disease (DM group), their duration of diabetes is more than 10 years, 89 type 2 diabetes patients with diabetic kidney disease (DKD group), their duration of diabetes is less than 10 years and 96 healthy controls (NC group)...