Single Nucleotide Polymorphism News and Research

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Non-coding genetic variant plays key role in endothelial function and disease incidence

Atherosclerotic disease, the slow and silent hardening and narrowing of the arteries, is a leading cause of mortality worldwide. It is responsible for more than 15 million deaths each year, including an estimated 610,000 people in the United States.

15 Nov 2018

Study links spinal muscular atrophy disease expression with haplotypes

A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity.

7 Sep 2018

Severity of asthma depends on genetic profile and air pollution

Asthma patients, with a specific genetic profile, exhibit more intense symptoms following exposure to traffic pollution, according to researchers at the National Institutes of Health and collaborators. The study appeared online in Scientific Reports.

31 Aug 2018

Study finds role of autoimmunity in development of COPD

Autoimmunity plays a role in the development of chronic obstructive pulmonary disease (COPD), according to a study led by Georgia State University and Vanderbilt University Medical Center that analyzed human genome information stored in Vanderbilt's DNA biobank.

16 Aug 2018

Researchers uncover cause for progression of prostate cancer to incurable stage

Researchers at the University of Oulu in Finland have discovered novel genes and mechanisms that can explain how a genomic variant in a single nucleotide polymorphism rs11672691 influences prostate cancer aggressiveness.

20 Jul 2018

New biosensor chip detects single nucleotide polymorphism in real time with high sensitivity

A team led by the University of California San Diego has developed a chip that can detect a type of genetic mutation known as a single nucleotide polymorphism and send the results in real time to a smartphone, computer, or other electronic device.

10 Jul 2018

Study: Effects of in vitro fertilization depend on genetic variation inherited from parents

In vitro fertilization affects the regulatory region of genes essential for placental and embryonic growth, as well as the birth weight.

19 Jun 2018

Childhood, adult obesity raise risk of developing hip and knee osteoarthritis

The results of a study to be presented at the Annual European Congress of Rheumatology suggest childhood and adult obesity increase the risk of developing hip osteoarthritis and knee OA but not hand OA.

18 Jun 2018

Scientists identify single genetic change in Salmonella that plays key role in bloodstream infections

Scientists have identified a single genetic change in Salmonella that is playing a key role in the devastating epidemic of bloodstream infections currently killing around 400,000 people each year in sub-Saharan Africa.

1 Mar 2018

Age of first menstruation may influence time spent in education for young women

The age at which girls have their first period may influence how long they stay in education.

9 Aug 2017

Natera's Panorama™ NIPT now offered by Biopticka Laborator in Czech Republic

Natera (NTRA), a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, and Biopticka Laborator, one of the largest and most well-established laboratories in the Czech Republic, today announced a Constellation™ technology transfer licensing agreement that enables Biopticka Laborator to leverage Natera’s proprietary single nucleotide polymorphism-based (SNP) technology to screen for fetal aneuploidies.

From Natera 2 Aug 2017

Large clinical study reveals the performance of Natera's Panorama® non-invasive prenatal test

Natera, Inc. a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, today announced the publication of a large clinical experience study evaluating the performance of the company's Panorama® non-invasive prenatal test (NIPT).

From Natera 31 Jul 2017

Genetic variation linked to greater tuberculosis susceptibility

Researchers have shown that a single nucleotide change in a gene that affects production of hepcidin--a peptide involved in inflammation, immunity, and control of iron levels--is associated with greater susceptibility to extrapulmonary tuberculosis.

21 Jul 2017

Specific genotype may predict recovery in patients with advanced cirrhosis after hepatitis c treatment

Genotyping of patients with advanced cirrhosis from hepatitis C virus could help health-care professionals predict the likelihood of improvement after successful hepatitis C treatment, thus minimizing the need for liver transplants.

8 May 2017

Method based on genetic information predicts response to drugs in epileptic patients

Researchers affiliated with the University of Campinas in São Paulo State, Brazil, have shown that genetic information can be used to improve early prediction of the response to drugs in patients with mesial temporal lobe epilepsy (MTLE), one of the most severe forms of epilepsy.

5 Apr 2017

Promega introduces new Spectrum Compact CE System for high quality DNA analysis

Soon scientists will be able to perform efficient DNA analysis right at their bench.

From Promega Corporation 21 Feb 2017

Scientists discover possible way to stop activation of proteins known to cause age-related diseases

Researchers at the University of Surrey, in collaboration with the Universities of Reading and Cologne, and the Royal Berkshire Hospital, have discovered that it is possible to stop the activation of a group of proteins (NADPH Oxidase) known to cause most of the diseases of ageing.

15 Dec 2016

Researchers find link between estrogen levels in lung tissue and SMLA in postmenopausal women

Thanks to advances in medical imaging, the detection rate for synchronous multiple lung adenocarcinoma (SMLA) has been on the rise. Cases of SMLA in Japanese women have been on the rise despite having a national smoking rate of less than 10% in recent years.

26 Oct 2016

Preimplantation genetic screening using next generation sequencing: an interview with Dr Luis Alcaraz

PGS, Preimplantation Genetic Screening, is a genetic test that analyses biopsied cells from embryos produced by in vitro fertilization (IVF) techniques. PGS determines whether the embryos are chromosomally normal (euploid) or not (aneuploid), thus giving the chance to transfer chromosomally normal embryos that are more apt to successfully implant and develop into a pregnancy.

24 Aug 2016

ICR researchers identify how genetic variant linked to leukaemia helps cancer cells survive

Scientists at The Institute of Cancer Research, London, have identified how an inherited genetic variant, associated with an increased risk of developing the most common type of leukaemia, helps cancer cells survive. The findings could lead to new ways to target the disease.

12 Aug 2016