Association of immunity-related gene SNPs with Alzheimer's disease.

Alzheimer's disease (AD) is a prevalent neurodegenerative disorder characterized by progressive cognitive decline. Genetic factors have been implicated in disease susceptibility as its etiology remains multifactorial. The and the genes, involved in immune responses, have emerged as potential candidates influencing AD risk.

Gram-negative bacterial colonization in the gut: Isolation, characterization, and identification of resistance mechanisms.

Background: The gut microbiome is made up of a diverse range of bacteria, especially gram-negative bacteria, and is crucial for human health and illness. There is a great deal of interest in the dynamic interactions between gram-negative bacteria and their host environment, especially considering antibiotic resistance. This work aims to isolate gram-negative bacteria that exist in the gut, identify their species, and use resistance-associated gene analysis to define their resistance mechanisms.

-related retinopathies in Lebanon.

Variants in () have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as retinopathies. is a sizable locus harboring 50 exons; thus, its analysis has revealed over 2,400 variants described, of which more than 2,000 are causal. Due to the clinical and genetic heterogeneity, diagnosing retinopathies is challenging.

Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.

Purpose: The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels.

Approach: We screened various variables such as the CRB1 mutation types, domains, exons, and genotypes and their relation with specific ocular phenotypes. An emphasis was given to the bi-allelic missense and nonsense mutations because of their high prevalence compared to other mutation types.

The genetic landscape of inherited retinal dystrophies in Arabs.

Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically, exhibiting substantial differences worldwide. To shed more light on these conditions, we investigated the genetic and phenotypic landscape of IRDs in the Arabs globally and per country.

Analysis of rod-cone dystrophy genes reveals unique mutational patterns.

Background: Rod-cone dystrophy (RCD) is the most common inherited retinal disease that is characterised by the progressive degeneration of retinal photoreceptors. RCD genes classification is based exclusively on gene mutations' prevalence and does not consider the implication of the same gene in different phenotypes. Therefore, we first investigated the mutations occurrence in autosomal recessive RCD (arRCD) and non-arRCD conditions.

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Describing the clinical and genetic features of an ethnically heterogeneous group of (inherited retinal diseases) IRD patients from different underrepresented countries, referring to specialized Italian Hospitals, and expanding the epidemiological spectrum of the IRD in understudied populations. The patients' phenotypes underwent were characterized by exhaustive ophthalmological examinations, including morpho-functional testing. Genetic testing was performed using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and-when necessary-multiplex ligation-dependent probe amplification (MLPA) to better identify the genotype.

Novel Missense and Splice Site Mutations in , , , and Are Associated With Usher Syndrome in Lebanon.

The purpose of this study was to expand the mutation spectrum by searching the causative mutations in nine Lebanese families with Usher syndrome (USH) using whole-exome sequencing. The pathogenicity of candidate mutations was first evaluated according to their frequency, conservation, and prediction tools. Then, it was confirmed Sanger sequencing, followed by segregation analysis.

The research output of rod-cone dystrophy genetics.

Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development index (HDI), by analyzing publication frequency and citations, the choice of journals and publishers, since 2000 to date. We have also analyzed the use of next-generation sequencing (NGS) in publications originating from countries with different HDIs.

Vitamin D Related Gene Polymorphisms and Cholesterol Levels in a Mediterranean Population.

In addition to its role in bone health, vitamin D (VitD) has been implicated in several pathological conditions. Specifically, VitD deficiency has been linked to an increased risk of dyslipidemia. Atherogenic dyslipidemia is characterized by increased low-density lipoprotein-cholesterol (LDL-C) and decreased high-density lipoprotein-cholesterol (HDL-C).

The association of vascular endothelial growth factor related SNPs and circulating iron levels might depend on body mass index.

Background And Objectives: Vascular Endothelial Growth Factor (VEGF) is an essential regulator of vascular biology. In addition to the well-established role in angiogenesis, circulating VEGF levels were found elevated in severely anemic patients, pointing out that anemia might affect the progression of angiogenesis in malignant and benign diseases through the alteration of VEGF levels. Ten single nucleotide polymorphisms (SNPs) in and other loci were shown to explain more than 50% of its circulating levels.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients.

Methods: A total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a total of 382 relatives.

rs6837671A>G in Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease.

(1) Background and objectives: Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality throughout the world. In addition to genetics, increasing evidence suggests that Vitamin D (VitD) might be involved in different pathogenic mechanisms in COPD. Furthermore, the prevalence of VitD insufficiency is exceptionally high in COPD patients and increases with the severity.

Pharmacogenetics in developing countries and low resource environments.

While significant advances have been made in pharmacogenetics (PGx), especially in countries with developed economies, this field remains at its infancy in developing countries and low resource environments. Herein, we provide insights into the gap and challenges of PGx at the research and clinical fronts, and some perspectives to bridge the gap and move forward with PGx in the developing world. We show that developing countries fall behind in PGx research, evidenced by a lower number of researchers, citations, and research output.

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Choroideremia is an X-linked inherited retinal disorder (IRD) characterized by the degeneration of retinal pigment epithelium, photoreceptors, choriocapillaris and choroid affecting males with variable phenotypes in female carriers. Unlike other IRD, characterized by a large clinical and genetic heterogeneity, choroideremia shows a specific phenotype with causative mutations in only one gene, CHM. Ongoing gene replacement trials raise further interests in this disorder.

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.

Importance: Biallelic variants in CLN3 lead to a spectrum of diseases, ranging from severe neurodegeneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to retina-restricted conditions.

Objective: To provide a detailed description of the retinal phenotype of patients with isolated retinal degeneration harboring biallelic CLN3 pathogenic variants and to attempt a phenotype-genotype correlation associated with this gene defect.

Design, Setting, And Participants: This retrospective cohort study included patients carrying biallelic CLN3 variants extracted from a cohort of patients with inherited retinal disorders (IRDs) investigated at the National Reference Center for Rare Ocular Diseases of the Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts from December 2007 to August 2020.

The genetics of rod-cone dystrophy in Arab countries: a systematic review.

Since a substantial difference in the prevalence of genetic causes of rod-cone dystrophy (RCD) was found among different populations, we conducted a systematic review of the genetic findings associated with RCD in Arab countries. Of the 816 articles retrieved from PubMed, 31 studies conducted on 407 participants from 11 countries were reviewed. Next-generation sequencing (NGS) was the most commonly used technique (68%).

Helicobacter Pylori Interacts with Serum Vitamin D to Influence Hypertension.

Hypertension is a multifactorial disease where numerous constitutive, genetic, and environmental factors interplay. Among the constitutive factors, age is a major determent continuously reported to be associated with a significant increase in the prevalence of hypertension. In addition to age, Helicobacter pylori (H.

Is There a Link Between Nutrition, Genetics, and Cardiovascular Disease?

Cardiovascular diseases (CVDs) are a group of disorders that mainly include coronary, cerebrovascular and rheumatic heart diseases [1].[..

The Association of rs1898830 in with Lipids and Blood Pressure.

Background And Objective: Toll-like receptors (TLRs) are important components of the innate immune system, involved in establishing immunity to infections. Apart from being implicated in immunity, numerous studies have reported that many TLRs, including TLR2, are involved in the pathogenesis of cardiovascular diseases and their risk factors. Since rs1898830 is associated with TLR2-mediated cellular activation, we aimed to study its association with CVD risk factors, such as lipid levels and hypertension.

rs622342 in , *2 and *3 and Glycemic Response in Individuals with Type 2 Diabetes Mellitus Receiving Metformin/Sulfonylurea Combination Therapy: 6-Month Follow-Up Study.

Background And Objective: Since the treatment outcome with oral anti-diabetics differs between individuals, the objective of this study is to evaluate the significance of rs622342 in , *2 (rs1799853) and *3 (rs1057910) with regard to the efficacy of metformin/sulfonylurea combination therapy in individuals with type 2 diabetes mellitus (T2DM).

Methods: Eighty-eight Lebanese individuals with T2DM received metformin/sulfonylurea combination therapy over 3 and 6 months. The clinical and biochemical characteristics were collected.