metaFARVAT: An Efficient Tool for Meta-Analysis of Family-Based, Case-Control, and Population-Based Rare Variant Association Studies

In this report, we propose a tool for the meta-analysis of family-based rare variant associations, metaFARVAT. metaFARVAT is based on a quasi-likelihood score for each variant. These scores are combined to generate burden test, variable-threshold test, sequence kernel association test (SKAT), and optimal SKAT statistics. The proposed method tests homogeneous and heterogeneous effects of variants among different studies and can be applied to both quantitative and dichotomous phenotypes. Simulation results demonstrated the robustness and efficiency of the proposed method in different scenarios. By applying metaFARVAT to data from a family-based study and a case-control study, we identified a few promising candidate genes, including DLEC1, which is associated with chronic obstructive pulmonary disease.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research

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Publication date: Available online 16 July 2019Source: The Lancet Respiratory MedicineAuthor(s): Alessandro N Franciosi, Tomás P Carroll, Noel G McElvaneySummaryα1-antitrypsin deficiency (AATD) remains the only readily identified genetic cause of chronic obstructive pulmonary disease (COPD). Furthermore, there is growing evidence that even a moderate deficiency increases the risk of lung disease among smokers. Despite these facts, the uptake of testing for AATD in at-risk populations remains low for many reasons, and a lack of clarity among clinicians regarding the most appropriate diagnostic techniques presen...
Source: The Lancet Respiratory Medicine - Category: Respiratory Medicine Source Type: research
Publication date: June 2019Source: Global Heart, Volume 14, Issue 2Author(s): Joep J. van Oosterhout, Mina Hosseinipour, Adamson S. Muula, Alemayehu Amberbir, Emily Wroe, Josh Berman, Cecilia Maliwichi-Nyirenda, Victor Mwapasa, Amelia Crampin, Martha Makwero, Emmanuel Singogo, Satish Gopal, Ulrika Baker, Samuel Phiri, Stephen B. Gordon, Sheldon Tobe, Jonathan Chiwanda, Jones Masiye, John Parks, Collins MitamboAbstractAfrica is experiencing an increasing prevalence of noncommunicable diseases (NCD). However, few reliable data are available on their true burden, main risk factors, and economic impact that are needed to infor...
Source: Global Heart - Category: Cardiology Source Type: research
Condition:   Severe COPD Intervention:   Other: NA: no intervention Sponsor:   University Medical Center Groningen Completed
Source: - Category: Research Source Type: clinical trials
This study aimed to examine the association between acute exacerbations of COPD and the lean-to-fat (LTF) ratio in patients with a normal or low BMI. MATERIAL AND METHODS Patients with COPD (n=68) underwent assessment of body composition, in whom 43 cases had a normal BMI (18.5 to 25 kg/m²) and 14 cases were underweight (
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
In this study, Nanocomposite Microparticles (NCMPs) of microRNA (miR-146a) containing PGA-co-PDL nanoparticles (NPs) for dry powder inhalation were formulated using L-leucine and mannitol. The spray-drying (Buchi B290) process was optimised and used to incorporate NPs into NCMPs using mix of L-leucine and mannitol excipients in different ratios (F1; 100:0 % w/w, F2; 75:25 % w/w, F3; 50:50 % w/w, F4; 25:75 % w/w, F5; 0:100 % w/w) to investigate yield %, moisture content, aerosolisation performance and miR-146a biological activity. The optimum condition was performed at feed rate 0.5 mL/min, aspirator rate 28 m3/h, atomizing...
Source: International Journal of Pharmaceutics - Category: Drugs & Pharmacology Source Type: research
Conclusions: COPD was more frequently diagnosed among adults with WRA than those with non-WRA, and adults diagnosed with both WRA and COPD appear to have more severe adverse asthma outcomes than those with non-WRA and no COPD. PMID: 31303076 [PubMed - as supplied by publisher]
Source: Journal of Asthma - Category: Respiratory Medicine Tags: J Asthma Source Type: research
(Natural News) Antidepressants and antihistamines are among the most common types of medications people take, and they belong to a class of drugs known as anticholinergics. These drugs can treat a variety of health problems, including COPD, asthma, depression, dizziness, gastrointestinal problems, overactive bladder, and the symptoms of Parkinson’s. Although they can be effective, a...
Source: - Category: Consumer Health News Source Type: news
Condition:   COPD Intervention:   Behavioral: Education about particulate matter practice score Sponsors:   Sei Won Lee;   Korea Centers for Disease Control & Prevention Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Point-of-care testing could help reduce antibiotic use in patients with exacerbations of COPD,  study results published in the New England Journal of Medicine show.
Source: The Pharmaceutical Journal - Category: Drugs & Pharmacology Source Type: research
ConclusionsInvestigators should consider including these preferences when designing ePRO assessments. Incorporating patient preferences for ePRO design can ultimately help reduce patient burden and increase engagement, compliance, and improve data quality.
Source: The Patient - Patient-Centered Outcomes Research - Category: International Medicine & Public Health Source Type: research
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