Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing
articles matching GWAS — open any to read the full text,
or download the PDF or XML.
Feb 2025 DOI 10.14302/issn.2326-0793.jpgr-25-5405
Ho Ming-FenCorresponding author
Alcohol use disorder (AUD) is the most prevalent substance use disorder. Excessive alcohol consumption leads to a range of health issues. We set out to identify inflammatory markers linked to alcohol consumption, which might ultimately offer novel insight into genetic underpinnings and have implications for alcohol-associated disease. Alcohol consumption and blood-based multi-omics data were collected by The Mayo Clinic Center for Individualized Treatment of Alcohol Dependence study. Plasma samples from patients with AUD were used for proteomics analysis using the OLINK “Explore Inflammation” panel (n=410). Liver enzymes were also measured. A genome-wide association study (GWAS) was performed to explore the relationship between genetic variants and plasma TREM2 levels. Our findings show thatplasma triggering receptor expressed on myeloid cells 2 (TREM2), a key gene associated with neurodegenerative disease, was the most significant signal correlated with alcohol consumption, and has also been associated with liver enzyme levels in patients with AUD. We identified the rs7232 single nucleotide polymorphism (SNP) in MS4A6A as a key genetic variant associated with plasma TREM2 levels, with the minor allele (A) linked to higher TREM2 levels and increased alcohol consumption, particularly in men. Furthermore, MA4A6A is an ethanol-responsive gene in a SNP-dependent manner, and the variant genotype of the rs7232 SNP was associated with lower expression for MA4A6A due to proteasome-mediated protein degradation. In summary, this study provides insight into the relationship between plasma TREM2 levels, alcohol consumption, and liver function in AUD patients, shedding light on genetic factors underlying alcohol-related diseases.
Oct 2021 DOI 10.14302/issn.2639-3166.jar-21-3952
Narain PremCorresponding author
Professor and Independent Researcher, 29278 Glen Oaks Blvd. West, Farmington Hills, USA.
This methods‑focused review addresses missing heritability and co‑heritability in genomic studies, considering polygenicity, rare variants, gene–gene and gene–environment interactions, and phenotype definition. It surveys analytical strategies—from improved GWAS modeling to partitioning heritability and family‑based designs—to better capture shared genetic architecture. Recommendations emphasize data integration and robust inference to close current explanatory gaps.
Jun 2016
Ratan Bandyopadhyay ArupCorresponding author
Department of Anthropology, University College of Science, Technology & Agriculture, University of Calcutta, India
Earlier studies reported significant association of obesity, hypertension and Type2 Diabetes Mellitus (T2DM). Genetic and many disease-associated alleles have been identified through GWAS and applied to T2DM and indicated roles of renin-angiotensin system (RAS) in insulin signaling pathway and insulin resistance has been well documented. Angiotensin converting enzyme (ACE) gene catalyzes the conversion of angiotensin I to angiotensin II and also inactive the vasodilatation and hence renin-angiotensin system (RAS) in insulin signaling pathway and insulin resistance has been reported. To best of the knowledge we are reporting for the first time regarding association of ACE gene polymorphism with body composition, physiological and metabolic variables among any endogamous ethnic group (Kurmis) from of West Bengal, Eastern India. To achieve the purpose, total 197 (male 99 and female 98) randomly selected apparently healthy unrelated adult individuals of Kurmi population of Purulia District, West Bengal, India were incorporated in the present study. Anthropometric variables, physiological variables (blood pressure) and metabolic variables (PP blood sugar) have been collected using standard techniques. Extracted genomic DNA was PCR amplified and genotyped to understand ACE gene I/D polymorphism. The result demonstrated significant (p<0.05) sexual dimorphism in PBF. MAP and PP blood sugar found to be in normal range among the Kurmis. ACE gene polymorphism showed no deletion of the Kurmis and hence, only the prevalence of ACE II (insertion-Insertion) genotype has been noticed. The present study vindicated on the basis of body composition in terms of fat patterning, physiological and metabolic variables and ACE gene polymorphism that there is very low or no risk of T2DM among the Kurmis of West Bengal, India.