by Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.) Individuals who carry the APOE4 gene variant have an elevated riskof developing subclinical atherosclerosis in middle age, whereas carriers of the variant APOE2 are protected. Credit: CNICScientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) in Madrid have found that one of the most potent genetic...
Tag: <span>Genetic variants</span>
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187 new genetic variants linked to prostate cancer found in largest, most diverse study of its kind
by Keck School of Medicine of USC Credit: CC0 Public Domain A globe-spanning scientific team has compiled the most comprehensive list of genetic variants associated with prostate cancer risk—451 in all—through a whole-genome analysis that ranks as the largest and most diverse investigation into prostate cancer genetics yet. The research, led by the USC Center for...
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Researchers use ‘deep sequencing’ to identify previously undescribed genetic variants in vascular anomalies
by Children’s Hospital of Philadelphia Credit: Pixabay/CC0 Public Domain Researchers from Children’s Hospital of Philadelphia (CHOP) recently discovered that extremely thorough “deep sequencing” of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular anomalies captured several genetic variants related to disease that were not captured with conventional genetic sequencing methods. More than...
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Scientists identify genetic variants linked to mobility changes in aging
by eLife A microscopic image of C. elegans roundworms used in a study to identify genetic variations that contribute to a build-up of oxidative stress, a process that can cause cell damage, in muscle tissue. Scientists screened the roundworms and found that variations in a gene called ALH-6 were associated with oxidative stress. Over time,...
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Small group of genetic variants found in extremely ill COVID patients may explain differences in how sick people get
by Medical College of Georgia at Augusta University Dr. Ravindra Kolhe. Credit: Michael Holahan, Augusta University The search to better understand the tremendous range of responses to infection with the COVID-19 virus—from symptom free to critically ill—has uncovered in some of the sickest patients a handful of rare structural gene variants involved in body processes,...
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Most ‘pathogenic’ genetic variants have a low risk of causing disease
by The Mount Sinai Hospital Researchers at the Icahn School of Medicine at Mount Sinai found that most disease-causing mutations have a low risk of actually causing disease. Credit: Do lab, Mount Sinai, N.Y., N.Y. Imagine getting a positive result on a genetic test. The doctor tells you that you have a “pathogenic genetic variant,”...
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New scientific resource will help uncover the genetic underpinnings of type 2 diabetes
by Massachusetts General Hospital Credit: Unsplash/CC0 Public Domain Many variants in the human genome have been linked to type 2 diabetes, but because most do not lie within genes that code for proteins, it’s unclear how they might cause disease. Now an international team, including investigators at Massachusetts General Hospital (MGH), has developed a resource to...
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Researchers identify genetic variants that impact immune cells’ functioning
by Wellcome Trust Sanger Institute Fig. 1: Properties PU.1 transcription factor QTLs. From: Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease. Credit: Nature Communications (2021). DOI: 10.1038/s41467-021-22548-8 Researchers have combined genome-wide sequencing and functional profiling of immune cells to understand more about the impact of genetic variants on disease. Certain genetic variants...
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Could Your Hemoglobin A1C Test Be Wrong?
Sharon Orrange, MD, MPHDr. Orrange is an Associate Professor of Clinical Medicine in the Division of Geriatric, Hospitalist and General Internal Medicine at the Keck School of Medicine of USC.Posted on July 2, 2020 The preferred way to screen for diabetes is with an A1C test. It’s easily done with a fingerstick in your doctor’s...
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Discovery of genetic variants that protect against obesity and type 2 diabetes could lead to new weight loss medicines
Around four million people in the UK carry genetic variants that protect them from obesity, type 2 diabetes and heart disease, suggests new research from the University of Cambridge. The team say the discovery could lead to the development of new drugs that help people lose weight. Scientists have known for several years that genes...