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.

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.

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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