Primary open angle glaucoma (POAG) is one of leading causes of adult blindness worldwide. To identify genetic variants associated with susceptibility to POAG, we conducted a genome-wide association study (GWAS) using 1394 cases and 6599 controls. Subsequently, we analyzed 33 single nucleotide polymorphisms (SNPs) which showed suggestive association (P < 1 × 10(-4)) by GWAS, using an additional set of 1802 cases and 7212 controls. In addition to confirmation of the association of the chromosome 9p21 locus [rs1063192, P= 5.2 × 10(-11), odds ratio (OR) = 0.75], and 14q23 (rs10483727, P = 9.49 × 10(-8), OR = 0.79) with POAG in Caucasians reported recently, we identified a suggestive-associated locus on 2q21 (rs7588567, P = 3.89 × 10(-7), OR = 0.85). For these described SNPs, minor alleles are suspected to have a protective effect from the disease. An linkage disequilibrium block containing rs10483727 includes the SIX6 gene that was implicated to have a critical role in eye development, and genes in both represented loci (SIX6 on chromosome 14q23, and CDKN2A-CDKN2B on chromosome 9p21) are known to be expressed in human ocular tissues, including the retina. Our GWAS results should contribute to better insight into the genetic basis of POAG.

ObjectiveTo assess clinical profiles of patients with type 2 diabetes in the United Arab Emirates (UAE), including patterns, frequencies, and risk factors of microvascular and macrovascular complications.Research design and methodsFour hundred and ninety patients with type 2 diabetes were enrolled from two major hospitals in Abu Dhabi. The presence of microvascular and macrovascular complications was assessed using logistic regression, and demographic, clinical and laboratory data were collected. Significance was set at p<0.05.ResultsHypertension (83.40%), obesity (90.49%) and dyslipidemia (93.43%) were common type 2 diabetes comorbidities. Most of the patients had relatively poor glycemic control and presented with multiple complications (83.47% of patients had one or more complication), with frequent renal involvement. The most frequent complication was retinopathy (13.26%). However, the pattern of complications varied based on age, where in patients <65 years, a single pattern presented, usually retinopathy, while multiple complications was typically seen in patients >65 years old. Low estimated glomerular filtration rate in combination with disease duration was the most significant risk factor in the development of a diabetic-associated complication especially for coronary artery disease, whereas age, lipid values and waist circumference were significantly associated with the development of diabetic retinopathy.ConclusionsPatients with type 2 diabetes mellitus in the UAE frequently present with comorbidities and complications. Renal disease was found to be the most common comorbidity, while retinopathy was noted as the most common diabetic complication. This emphasizes the need for screening and prevention program toward early, asymptomatic identification of comorbidities and commence treatment, especially for longer disease duration.

Systemic lupus erythematosus (SLE) is an autoimmune disease that causes multiple organ damage. Although recent genome-wide association studies (GWAS) have contributed to discovery of SLE susceptibility genes, few studies has been performed in Asian populations. Here, we report a GWAS for SLE examining 891 SLE cases and 3,384 controls and multi-stage replication studies examining 1,387 SLE cases and 28,564 controls in Japanese subjects. Considering that expression quantitative trait loci (eQTLs) have been implicated in genetic risks for autoimmune diseases, we integrated an eQTL study into the results of the GWAS. We observed enrichments of cis-eQTL positive loci among the known SLE susceptibility loci (30.8%) compared to the genome-wide SNPs (6.9%). In addition, we identified a novel association of a variant in the AF4/FMR2 family, member 1 (AFF1) gene at 4q21 with SLE susceptibility (rs340630; P = 8.3×10−9, odds ratio = 1.21). The risk A allele of rs340630 demonstrated a cis-eQTL effect on the AFF1 transcript with enhanced expression levels (P<0.05). As AFF1 transcripts were prominently expressed in CD4+ and CD19+ peripheral blood lymphocytes, up-regulation of AFF1 may cause the abnormality in these lymphocytes, leading to disease onset.

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Background YouTube is a valuable source of health-related educational material which can have a profound impact on people’s behaviors and decisions. However, YouTube contains a wide variety of unverified content that may promote unhealthy behaviors and activities. We aim in this systematic review to provide insight into the published literature concerning the quality of health information and educational videos found on YouTube. Methods We searched Google Scholar, Medline (through PubMed), EMBASE, Scopus, Direct Science, Web of Science, and ProQuest databases to find all papers on the analysis of medical and health-related content published in English up to August 2020. Based on eligibility criteria, 202 papers were included in our study. We reviewed every article and extracted relevant data such as the number of videos and assessors, the number and type of quality categories, and the recommendations made by the authors. The extracted data from the papers were aggregated using different methods to compile the results. Results The total number of videos assessed in the selected articles is 22,300 (median = 94, interquartile range = 50.5–133). The videos were evaluated by one or multiple assessors (median = 2, interquartile range = 1–3). The video quality was assessed by scoring, categorization, or based on creators’ bias. Researchers commonly employed scoring systems that are either standardized (e.g., GQS, DISCERN, and JAMA) or based upon the guidelines and recommendations of professional associations. Results from the aggregation of scoring or categorization data indicate that health-related content on YouTube is of average to below-average quality. The compiled results from bias-based classification show that only 32% of the videos appear neutral toward the health content. Furthermore, the majority of the studies confirmed either negative or no correlation between the quality and popularity of the assessed videos. Conclusions YouTube is not a reliable source of medical and health-related information. YouTube’s popularity-driven metrics such as the number of views and likes should not be considered quality indicators. YouTube should improve its ranking and recommender system to promote higher-quality content. One way is to consider expert reviews of medical and health-related videos and to include their assessment data in the ranking algorithm.

Discoveries from the human genome, HapMap, and 1000 genome projects have collectively contributed toward the creation of a catalog of human genetic variations that has improved our understanding of human diversity. Despite the collegial nature of many of these genome study consortiums, which has led to the cataloging of genetic variations of different ethnic groups from around the world, genome data on the Arab population remains overwhelmingly underrepresented. The National Arab Genome project in the United Arab Emirates (UAE) aims to address this deficiency by using Next Generation Sequencing (NGS) technology to provide data to improve our understanding of the Arab genome and catalog variants that are unique to the Arab population of the UAE. The project was conceived to shed light on the similarities and differences between the Arab genome and those of the other ethnic groups.

We performed a genome-wide association study (GWAS) on levels of serum total protein (TP), albumin (ALB), and non-albumin protein (NAP). We analyzed SNPs on autosomal chromosomes using data from 9,103 Japanese individuals, followed by a replication study of 1,600 additional individuals. We confirmed the previously- reported association of GCKR on chromosome 2p23.3 with serum ALB (rs1260326, P meta = 3.1×10−9), and additionally identified the significant genome-wide association of rs4985726 in TNFRSF13B on 17p11.2 with both TP and NAP (P meta = 1.2×10−14 and 7.1×10−24, respectively). For NAP, rs3803800 and rs11552708 in TNFSF13 on 17p13.1 (P meta = 7.2×10−15 and 7.5×10−10, respectively) as well as rs10007186 on 4q21.2 near ANXA3 (P meta = 1.3×10−9) also indicated significant associations. Interestingly, TNFRSF13B and TNFSF13 encode a tumor necrosis factor (TNF) receptor and its ligand, which together constitute an important receptor-ligand axis for B-cell homeostasis and immunoglobulin production. Furthermore, three SNPs, rs4985726, rs3803800, and rs11552708 in TNFRSF13B and TNFSF13, were indicated to be associated with serum levels of IgG (P<2.3×10−3) and IgM (P<0.018), while rs3803800 and rs11552708 were associated with IgA (P<0.013). Rs10007186 in 4q21.2 was associated with serum levels of IgA (P = 0.036), IgM (P = 0.019), and IgE (P = 4.9×10−4). Our results should add interesting knowledge about the regulation of major serum components.

BackgroundObesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. The aim of this study was to investigate the association of candidate gene single nucleotide polymorphisms (SNPs), namely FTO (rs9939609) and VDR (rs1544410), with obesity in the UAE population.MethodsThis is a case-control study in which genomic DNA was extracted from saliva samples of 201 obese, 115 overweight, and 98 normal subjects in the United Arab Emirates (UAE). Genotyping for the variants was performed using TaqMan assay.ResultsThe mean Body Mass Index (BMI) ± SD for the obese, overweight, and normal subjects was 35.76 ± 4.54, 27.53 ± 1.45, and 22.69 ± 1.84 kg/m2, respectively. Increasing BMI values were associated with increase in values of HbA1c, systolic and diastolic blood pressure. There was a significant association observed between the FTO SNP rs9939609 and BMI (p = 0.028), with the minor allele A having a clear additive effect on BMI values. There was no significant association detected between BMI and rs1544410 of VDR. Moreover, significant interaction between the FTO rs9939609 and physical activity reduced the “AA” genotype effect on increase in BMI (p = 0.027).ConclusionsOur study findings indicate that the minor allele A of the rs9939609 has a significant association with increasing BMI values. Moreover, our findings support the fact that increasing BMI is associated with increasing risks of other comorbidities such as higher blood pressure, poorer glycemic control, and higher triglycerides. In addition, physical activity was found to attenuate the effect of the “AA” genotype on the predisposition to higher BMI values.