Background: GAW20 working group 5 brought together researchers who contributed 7 papers with the aim of evaluating methods to detect genetic by epigenetic interactions. GAW20 distributed real data from the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study, including single-nucleotide polymorphism (SNP) markers, methylation (cytosine-phosphate-guanine [CpG]) markers, and phenotype information on up to 995 individuals. In addition, a simulated data set based on the real data was provided.

Results: The 7 contributed papers analyzed these data sets with a number of different statistical methods, including generalized linear mixed models, mediation analysis, machine learning, W-test, and sparsity-inducing regularized regression. These methods generally appeared to perform well. Several papers confirmed a number of causative SNPs in either the large number of simulation sets or the real data on chromosome 11. Findings were also reported for different SNPs, CpG sites, and SNP-CpG site interaction pairs.

Conclusions: In the simulation (200 replications), power appeared generally good for large interaction effects, but smaller effects will require larger studies or consortium collaboration for realizing a sufficient power.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157121PMC
http://dx.doi.org/10.1186/s12863-018-0650-7DOI Listing

Publication Analysis

Top Keywords

real data
12
contributed papers
8
data
5
challenge detecting
4
detecting genotype-by-methylation
4
genotype-by-methylation interaction
4
interaction gaw20
4
gaw20 background
4
background gaw20
4
gaw20 working
4

Similar Publications

Background: Hypertension is the leading risk factor for cardiovascular disease (CVD). Despite advances in blood pressure management, significant racial and ethnic disparities persist, resulting in higher risks of stroke, heart disease, and mortality among non-White populations. Self-measured blood pressure (SMBP) monitoring, also known as home blood pressure monitoring, has shown promise in improving blood pressure control, especially when combined with feedback from healthcare providers.

View Article and Find Full Text PDF

Objectives: Transcatheter edge-to-edge repair (TEER) is an alternative for patients with severe degenerative mitral regurgitation (MR). The objective of this study was to compare the outcomes of surgery and TEER in older patients with degenerative MR patients using real life data.

Methods: Consecutives older patients (≥ 65 years-old), with severe symptomatic, degenerative MR requiring surgery or TEER between 2013 and 2023 were included.

View Article and Find Full Text PDF

Background: Edaravone is marketed in nine countries, although only Japan has approved edaravone for improvement of neurological symptom, disability of activities of daily living (ADL), and functional disability associated with acute stroke. This study aimed to elucidate the association of edaravone use with ADL using real-world data of older patients with atherothrombotic stroke.

Methods: This retrospective observational research using the Medical Data Vision database in Japan included patients aged 65 years and older who had acute ischemic stroke of the atherothrombotic subtype.

View Article and Find Full Text PDF

Awake craniotomy (AC) facilitates real-time brain mapping, maximizing tumor resection while preserving critical neurological functions. This study systematically reviews the efficacy of several anesthetic protocols under Monitored Anesthesia Care (MAC) during AC, focusing on clinical outcomes. A systematic review and meta-analysis were conducted using data from observational studies and randomized trials involving AC under MAC.

View Article and Find Full Text PDF

The facial gestalt (overall facial morphology) is a characteristic clinical feature in many genetic disorders that is often essential for suspecting and establishing a specific diagnosis. Therefore, publishing images of individuals affected by pathogenic variants in disease-associated genes has been an important part of scientific communication. Furthermore, medical imaging data is also crucial for teaching and training deep-learning models such as GestaltMatcher.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!