Single Nucleotide Polymorphisms News and Research

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Researchers uncover 16 genetic markers linked to decreased lifespan

The answer to how long each of us will live is partly encoded in our genome. Researchers have identified 16 genetic markers associated with a decreased lifespan, including 14 new to science. This is the largest set of markers of lifespan uncovered to date.

27 Jul 2017

Finnish mothers carry rare gene variants that protect them from pre-eclampsia, study finds

Researchers at the University of Helsinki, in cooperation with two research groups in the United States, have discovered that some Finnish mothers carry rare gene variants that protect them from pre-eclampsia, also known as toxaemia of pregnancy.

3 Jul 2017

Study explores factors, patterns that predict use of restrictive feeding for children

In the preschool years, children begin to learn from their environment about self-regulation--both in regards to food choices and how to deal with their emotions.

16 Jun 2017

Scientists identify ten new genetic variants linked to cardiac structure and function

Strong or weak, big or small - variations in our genome play a decisive part in how our heart is shaped and works.

24 May 2017

Scientists identify new risk genes providing insights about cause of CAD

Coronary artery disease (CAD) is a leading cause of death worldwide. Despite dozens of regions in the genome associated with CAD, most of the genetic components of heart diseases are not fully understood, suggesting that more genes are out there to be found.

23 May 2017

Newly identified biomarkers could help predict cognitive deficits in Parkinson's disease patients

New biomarkers identified by a research team in the Perelman School of Medicine at the University of Pennsylvania could help predict which Parkinson's disease patients will suffer significant cognitive deficits within the first three years of their diagnosis.

18 May 2017

Researchers identify new rare genetic variants linked to extreme longevity

The search for the genetic determinants of extreme longevity has been challenging, with the prevalence of centenarians (people older than 100) just one per 5,000 population in developed nations.

25 Apr 2017

Proteomics unravels molecular mechanisms influenced by genetic variations

How does type 2 diabetes develop? A team of researchers headed by the Helmholtz Zentrum München and the Technical University of Munich has come closer to finding an answer to this problem. The team examined the functional effects of exemplary genetic variations relevant for type 2 diabetes. Their approach can be applied to many clinical pictures.

28 Mar 2017

Researchers develop novel genetic score to calculate age-specific risk of Alzheimer's disease

An international team of scientists, led by researchers at University of California San Diego School of Medicine and University of California San Francisco, has developed a novel genetic score that allows individuals to calculate their age-specific risk of developing Alzheimer's disease (AD), based upon genetic information.

22 Mar 2017

Methylation status of ten positions in genome correlates with all-cause mortality

Various chemical modifications in the genome determine whether genes are read or deactivated. Methyl labels in the DNA play a key role in this "epigenetic" regulation of gene activity.

20 Mar 2017

Scientists identify genetic clues to chronic kidney disease

Using international genomic studies backed by proof-of-concept cell experiments, researchers have identified two genes that contribute to the chronic kidney disease glomerulonephritis.

16 Mar 2017

Scientists find evidence for gene that may be linked to social phobia

People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life and maintain contact above all on the Internet.

9 Mar 2017

Researchers identify gene variants that may predispose individuals to develop gallbladder cancer

By comparing the genetic code of gallbladder cancer patients with those of healthy volunteers at nearly 700,000 different locations in the genome, researchers say they have found several gene variants which may predispose individuals to develop the disease.

6 Mar 2017

Researchers identify genetic variants that may contribute to schizophrenia

New research has identified sections of DNA associated with altered regulation of gene expression underlying schizophrenia.

27 Feb 2017

Pitt study sheds light on shared roots of schizophrenia and rheumatoid arthritis

An in-depth computational analysis of genetic variants implicated in both schizophrenia and rheumatoid arthritis by researchers at the University of Pittsburgh points to eight genes that may explain why susceptibility to one of the disorders could place individuals at lower risk for the other, according to the results of a study published today in the journal npj Schizophrenia.

24 Feb 2017

Genetic variant encoded in NCF1 linked to increased risk for autoimmune diseases, study shows

Investigators at the Medical University of South Carolina report pre-clinical research showing that a genetic variant encoded in neutrophil cystolic factor 1 (NCF1) is associated with increased risk for autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, and Sjögren's syndrome, in the January 2017 issue of Nature Genetics.

8 Feb 2017

NMR and metabolic phenotyping

In this interview, Dr Harmut Schafer introduces the work being done at the Phenome Center in Birmingham, on metabolic phenotyping using NMR.

From Bruker BioSpin - NMR, EPR and Imaging 31 Jan 2017

Novel potassium channel genes could be promising therapeutic targets for alcohol use disorder

A handful of FDA-approved drugs exist for treating individuals with alcohol use disorder but they have been largely ineffective at reducing the high rates of relapse. As such, there remains a critical need to identify and develop alternative pharmacological treatment options.

31 Jan 2017

Metabolomics and NMR

Bruker has been involved in the Phenome Center network since its beginning. Several years ago, the whole visionary concept of a global phenome network was actually born with Professor Jeremy Nicholson and Bruker BioSpin has been part of it since the early stages.

From Bruker BioSpin - NMR, EPR and Imaging 17 Jan 2017

DaVita releases recap of 2016 accomplishments

DaVita Inc., a leading independent medical group and a leading provider of kidney care services in the United States, today released a recap of major accomplishments for the company in 2016, marking its 16th year bringing quality of life to patients and teammates around the world.

30 Dec 2016