GWAS

GWAS identifies variant associated with diabetic retinopathy and susceptibility to T2D

Fri, 06 Mar 2026 08:00:00 -0500

Scientists at the University of Nottingham Ningbo China and collaborators aimed to identify genetic variants associated with diabetic retinopathy.

Study gives insight into five inflammatory diseases, and the noncoding genome

Tue, 25 Jun 2024 09:00:00 -0400

A recent paper has identified the enhancer ETS2, located in a so-called gene desert, as a contributor to five separate immune disorders. It also showed that one of ETS2’s target genes mediating this inflammation was the eminently druggable MEK, a kinase that is the target of the FDA-approved inhibitors Mekinist (trametinib, GSK plc), Mektovi (binimetinib, Array Biopharma Inc.), Cotellic (cobimetinib, Roche Holding AG) and Koselugo (selumetinib, Astrazeneca plc/Merck & Co. Inc.).

African ancestry GWAS yields glaucoma risk loci

Fri, 26 Jan 2024 09:00:00 -0500

Primary open-angle glaucoma is the leading cause of blindness globally. Individuals of African ancestry have a disproportionately high risk of developing glaucoma, but genetic risk factors have been studied mainly in populations of European ancestry.

Study identifies nearly 100 abdominal aortic aneurysm risk genes

Fri, 03 Nov 2023 09:00:00 -0400

The largest genetic analysis of abdominal aortic aneurysm (AAA) carried out to date has identified almost 100 new risk variants linked to the disorder. The study also highlighted a possible therapeutic target for this pathology that, at the moment, has no treatment. AAA affects 4% of people over 65 years of age in the U.S. and causes 41,000 deaths per year. The incidence is three to four times higher in men than in women.

Largest genetic analysis of epilepsy reveals 26 risk regions in DNA

Wed, 06 Sep 2023 09:00:00 -0400

A large-scale genetic study found 26 risk loci for epilepsy, a chronic brain disease with multiple forms, not all of them heritable. The work, by more than 300 authors from the International League Against Epilepsy (ILAE), investigated seven different subtypes of this neurological condition. “There are over 100 genes that we know can harbor mutations that cause epilepsy,” the co-corresponding author Gianpiero Cavalleri told BioWorld. These genes have rare forms that cause that epilepsy. However, “this particular GWAS is focused more on common forms of epilepsy,” he said.

Machine learning sleuthing yields undiagnosed binge eating patients, insights

Wed, 16 Aug 2023 09:00:00 -0400

By using machine learning techniques to scour electronic health records, researchers have identified individuals who were likely to have binge eating disorder (BED) but had not received a formal diagnosis. Genomewide association studies including such patients enabled the investigators to identify several risk variants that were correlated with BED irrespective of body mass index (BMI), which covaries with BED and is a potential confounding factor.

Multivariate GWAS IDs healthy aging candidate genes

Tue, 08 Aug 2023 09:00:00 -0400

Researchers have used multivariate statistical analysis to identify new genomic loci related to aging, and new potential drug targets. They reported their findings online in Nature Aging on Aug. 7, 2023. Aging is a multifaceted process, and whether it is going well or not is determined by multiple factors. Most aging studies, however, focus on individual aspects of aging.

CHD1L joins CCR5, HLA as host genetic factor affecting HIV infection

Thu, 03 Aug 2023 09:00:00 -0400

A study of the genetic determinants of HIV viral load in 3,879 people of African ancestries has found what is claimed to be the only new variant related to HIV infection discovered in more than two decades of research into how host genomics affects the response to the retrovirus.

Genetic risk factors for long COVID point to multiple organ systems, druggable targets

Thu, 20 Jul 2023 09:00:00 -0400

The most in-depth study to date of the genetic risk factors for long COVID has identified 73 genes that are highly associated with severe or fatigue-dominant forms of the disease. Many of these genes also are known to be associated with other disorders, including myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and neurodegenerative, autoimmune, cardiovascular and metabolic diseases.

First GWAS for MS severity turns up first brain-related SNP

Thu, 29 Jun 2023 09:00:00 -0400

Multiple sclerosis (MS) is and remains “a problem in the immune system” Stephen Sawcer told BioWorld. As in other autoimmune diseases, a faulty immune system attacks otherwise healthy tissues that it should be leaving alone. In the case of MS, the tissue in question is oligodendrocytes. And a study published online in Nature on June 28, 2023, suggests that while MS’ beginnings are autoimmune, the path it takes in an individual patient is determined in part by how well the brain can cope with the autoimmune attack.

Blood cells can tell tales about risk of neurological and psychiatric disorders

Wed, 25 Jan 2023 11:00:00 -0500

A genome-wide association study (GWAS) from The University of Queensland has linked blood cell traits (BCTs) and neurological and psychiatric disorders (NPDs), providing a tool to improve patient treatments or repurposing different drugs. The researchers also found a cause-effect relationship between Parkinson's and platelet distribution width. In their study, published Jan. 25, 2023, in Cell Genomics, the scientists observed the genetic overlap between common NPDs and 29 BCTs, including functional genes, regulatory elements and new genetic correlations linked to hematological data and for these diseases.

Rockfish lifespan diversity gives insights into human aging GWAS

Mon, 16 Jan 2023 08:00:00 -0500

“Short-lived organisms represent a fundamentally different evolutionary strategy, and the idiosyncrasies influencing their aging may not apply to longer-lived models, including humans,” researchers from Harvard Medical School wrote in the Jan. 11, 2023, issue of Science Advances.

In their paper, the authors reported insights into the genomics of longevity that took advantage of an unusual animal model: rockfish.

UCLA biobank takes advantage of LA’s diversity

Thu, 12 Jan 2023 09:00:00 -0500

Los Angeles is one of the most diverse cities in the U.S. This diversity is evident at University of California, Los Angeles (UCLA), a university that attracts students (37,000) and workers (22,090) from 118 countries. It is enough to go for a walk on campus or its surroundings to believe that one is at a United Nations convention. Researchers at the UCLA ATLAS Community Health Initiative has been capturing that diversity in a genomic biobank whose data will help to understand, anonymously, the genetic basis of certain diseases. With them, scientists will be able to design the best treatments for these patients.

New approach to osteoarthritis identified through GWAS

Wed, 11 Jan 2023 09:00:00 -0500

An Icelandic genome-wide association study that linked variants in a gene which regulates retinoic acid synthesis to severe osteoarthritis (OA) of the hands, has led on to the discovery of an anti-inflammatory role for the vitamin A metabolite and pointed to a new class of potentially disease-modifying drugs. A proof-of-concept clinical trial of talarozole, a retinoic acid metabolism blocking agent, is now taking place to assess if increasing retinoic acid production suppresses inflammation in the joint tissues of patients with OA.

Large datasets, good statistics allow disease-agnostic SNP discoveries

Tue, 24 Dec 2019 12:00:00 -0500

LONDON – While large-scale biobanks that link genomics to longitudinal health records of diagnosis, treatment and outcomes promise to revolutionize the understanding of the genetics of complex disease, the detailed statistical analysis of those high-dimensional data is still very much in its infancy.

Large datasets, good statistics allow disease-agnostic SNP discoveries

Mon, 23 Dec 2019 12:00:00 -0500

LONDON – While large-scale biobanks that link genomics to longitudinal health records of diagnosis, treatment and outcomes promise to revolutionize understanding of the genetics of complex disease, the detailed statistical analysis of those high-dimensional data is still very much in its infancy.