Single Nucleotide Polymorphisms News and Research

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Precision epidemiology could help explain variability in COVID-19 symptoms

Researchers from National Taiwan University have presented a multi-omics view of how mutations in angiotensin-converting enzyme 2 (ACE2) and transmembrane protease serine 2 (TMPRSS2) affect infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and progression of coronaviruses disease 2019 (COVID-19).

20 Oct 2020

Mendelian randomization helps evaluate impact of circulating proteins in COVID-19

Researchers identify circulating proteins influencing COVID-19 susceptibility and severity by employing a large-scale two-sample Mendelian randomization (MR) study.

15 Oct 2020

Study examines the pharmacogenomics of opioid addiction

In one of the first studies of its kind, a University of Cincinnati researcher is using a grant from the Ohio attorney general's office to research the pharmacogenomics of opioid addiction.

13 Oct 2020

Identifying cardiopulmonary processes involved in severe COVID-19

Researchers in the United States have identified cardiopulmonary processes that may partly explain why some individuals with coronavirus disease 2019 (COVID-19) develop respiratory failure.

4 Oct 2020

Human-to-cat transmission of SARS-CoV-2 confirmed

Cat-to-cat transmission of SARS-CoV-2 has been experimentally proven, but little is known about the significance of this novel virus as a feline pathogen or its reverse zoonotic potential. The establishment of new animal reservoirs of SARS-CoV-2 could pose serious problems for human health in the future.

24 Sep 2020

Prevalence of SARS-CoV-2 with D614G mutation in a second wave infection in Houston

A recent study reveals that the genetic variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) detected in the initial phase of coronavirus disease 2019 (COVID-19) pandemic differ from the variants detected in a massive second wave of infection in Houston, Texas. The study is currently available on the medRxiv preprint server.

24 Sep 2020

Inherited variation in GATA3 gene is linked to relapse in children with acute lymphoblastic leukemia

Scientists at St. Jude Children's Research Hospital are investigating the inherited genetics of childhood leukemia and how particular gene variations can affect treatment outcomes.

11 Sep 2020

Understanding SARS-CoV-2 evolution requires more focus on structural variants

Researchers in the United States and Canada warn that more attention needs to be paid to the role that structural variants and recombination in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have played in the evolutionary history of the virus.

3 Sep 2020

Identifying COVID-19 host genes using symptom-based predictions

A recent study published on the preprint server bioRxiv* in August 2020 shows that symptom-based prediction of the diagnosis can help identify host genes that are responsible for part of this variability.

26 Aug 2020

New research delineates how genetic variations cause atopic dermatitis

New research supported by the National Institutes of Health delineates how two relatively common variations in a gene called KIF3A are responsible for an impaired skin barrier that allows increased water loss from the skin, promoting the development of atopic dermatitis, commonly known as eczema.

14 Aug 2020

New research on COVID-19 and aging

A new study published on the preprint server medRxiv in August 2020 shows that genetic factors, chronic disease, and biological aging define the relationship between aging and the severity of COVID-19.

11 Aug 2020

Genetic variation influencing chromatin states associated with neuropsychiatric disorders

A new study led by NorthShore University HealthSystem and the University of Chicago took a novel approach to identifying SNPs influencing the risk of neuropsychiatric disorders like schizophrenia, bipolar and major depressive disorder, the institutions announced today.

4 Aug 2020

No unique viral sequences found in pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2

In contrast to previous hypotheses, researchers from the University College London and Great Ormond Street Hospital for Children NHS Foundation Trust found no evidence of unique viral sequences from patients with pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS). Their study is published on the medRxiv* preprint server.

12 Jul 2020

NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome, reveals study

An international research collaboration, including Professor IIJIMA Kazumoto et al. (of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children.

3 Jul 2020

Evidence of link between ACE2 genotype and COVID-19 disease severity

A new study published on the preprint server medRxiv in June 2020 shows that variants in the ACE2 gene which encodes the enzyme receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes COVID-19 disease, are linked to the risk of severe disease.

24 Jun 2020

Tracing coronavirus habitats with genomics

Now, a new study by researchers at the University of Ottawa and published on the preprint server bioRxiv in June 2020 reports the differences in genomes of viruses that are exposed to antiviral proteins vs. those that are not. This host-derived pressure on the virus to adapt may help devise newer ways to build an effective vaccine.

15 Jun 2020

Genomic variation and descent of SARS-CoV-2 strains in India

The pandemic of COVID-19 that is still affecting over 188 countries and territories the world over has taken over 359,000 lives in just under five months, while affecting at least 5.8 million people. Different strains have diverged from the original strain detected in Wuhan, China.

28 May 2020

Genomic sequences from all over the world help fight SARS-CoV-2

As the COVID-19 pandemic rages across the world, killing hundreds of thousands and infecting over 4.1 million, researchers are racing against time to understand the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The SARS-CoV-2 genome has now been sequenced in many different regions of the world, and researchers are collaborating by sharing information to better understand the make-up and mutations that the virus has undergone.

11 May 2020

SARS-CoV-2 in wastewater and rivers

A new study published on the preprint server medRxiv in May 2020 shows that while the virus causing COVID-19 may be present in wastewater and rivers, the biological agent is typically devoid of vitality and unable to cause active infection. This should provide some relief to public health authorities in their quest to contain the virus.

6 May 2020

SARS-CoV-2 genome shows mutation hotspots and type-specific distribution

Now, a new study published on the preprint server bioRxiv reports on a large scale analysis of SARS-CoV-2 genomes and reveals a clonal geo-distribution and rich genetic variations.

5 May 2020