Single Nucleotide Polymorphisms News and Research

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ARUP enters partnership to offer deCODE's DNA-based prostate cancer risk assessment test

deCODE genetics and ARUP Laboratories today announced a partnership through which ARUP will offer deCODE's DNA-based prostate cancer risk assessment test to its clients nationwide.

20 Jul 2010

Susceptibility to Behcet's disease associated with genes involved in body's immune response

Researchers with the National Institutes of Health have found susceptibility to Behcet's disease, a painful, inflammatory condition, to be associated with genes involved in the body's immune response.

14 Jul 2010

GWAS suggests genetic variant with increased oncogene expression for cancer study

The study, published July 13th in Genome Research, showcases a new protocol for studying the activity of cancer-risk variants suggested by GWAS studies. The results also underscore the dramatic consequences of small genetic changes even in the vast stretches of DNA, known as "gene deserts," that do not code for proteins.

13 Jul 2010

Common SNP in sequence of human genome conferring risk of vascular diseases discovered

Scientists at deCODE genetics and academic colleagues from the Netherlands and twelve other countries across Europe and North America today report the discovery of a common single-letter variation (SNP) in the sequence of the human genome conferring risk of a range of vascular diseases. The SNP confers risk of abdominal aortic aneurysm (AAA), early-onset heart attack, peripheral artery disease (PAD), and pulmonary embolism, independent of other known risk factors.

12 Jul 2010

Mutations in Siglec-8 gene may play role in asthma: Research

A gene that encodes a protein responsible for determining whether certain immune cells live or die shows subtle differences in some people with asthma, a team led by Johns Hopkins researchers reports in the June European Journal of Human Genetics.

1 Jul 2010

People with certain chitinase gene variants at increased risk of severe asthma attacks

Exposure to high levels of fungus may increase the risk of severe asthma attacks among people with certain chitinase gene variants, according to a study from Harvard Medical School, Harvard Pilgrim Health Care Institute and Brigham and Women's Hospital.

24 Jun 2010

Risk, incidence of VTE differs between races

A new study of 1,960 White-Americans and 368 Black-Americans with objectively diagnosed venous thromboembolism (VTE) showed that, compared to Whites, Blacks had a significantly higher proportion with pulmonary embolism (PE), including idiopathic PE among Black women, and a significantly higher proportion of Blacks with VTE were women (71% vs 61% for Whites) The study is published today in the American Journal of Hematology.

24 Jun 2010

3 new genes in genetic research of suicidal behaviour

Three genes that have barely been studied to date have now provided fresh knowledge about patients with suicidal backgrounds. This is the result of a study by a team of Spanish researchers at Mount Sinai Hospital and Columbia University in the City of New York (United States), which found that several mutations are involved. This finding could help to develop future genetic tests to identify predisposition to suicide, without ignoring the importance of social and cultural factors.

16 Jun 2010

CNVs increases patients' susceptibility to severe sepsis

Genetic makeup has been identified as a key factor leading to the development of sepsis, a systemic inflammatory reaction that occurs during infection. Sepsis is considered severe when associated with organ dysfunction.

14 Jun 2010

New study to use genetic 'chips' for examining DNA from over 20,000 heart disease patients

New research at the University of Leicester will use the latest genetic techniques to examine DNA from over 20,000 patients with heart disease.

11 Jun 2010

Two variants of LPA gene associated with increased risk of coronary heart disease

Celera Corporation and its collaborators at the University of California at San Francisco today announced the publication of a paper confirming the association of an increased risk of coronary heart disease (CHD) and two variants of the LPA gene. The two LPA single nucleotide polymorphisms (SNPs) are Ile4399Met, a polymorphism in the protease-like domain of LPA, and rs10455872, a SNP located in a non-coding region of the LPA gene.

9 Jun 2010

Illumina commences shipment of new HumanOmni2.5-Quad DNA Analysis BeadChip microarray

Illumina, Inc. today announced that it has begun shipping its new HumanOmni2.5-Quad DNA Analysis BeadChip (Omni2.5). This microarray contains millions of newly discovered genome-wide common and rare variants from the 1,000 Genomes Project (1kGP), selected to maximize its ability to detect new associations.

From Illumina, Inc. 2 Jun 2010

Researchers discover genetic variant that raises risk of CHD

Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the common variation in the genes that give rise to it. Now genetics and cardiology researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease.

27 May 2010

Study confirms genetic overlap for susceptibility to COPD and lung cancer

New research shows genes that make smokers more likely to develop chronic obstructive pulmonary disease (COPD), or emphysema, are also closely linked to an increased likelihood of developing lung cancer, according to studies presented today at the American Thoracic Society's annual meeting.

18 May 2010

Genetics researchers use new approach to detect causal gene variants

In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, say genetics researchers, the culprits may be numerous rare variants, located in DNA sequences farther away from the original "hot spots" than scientists have been accustomed to look.

5 May 2010

Mayo Clinic researchers identify genetic variants in serotonin genes that impact IBS

Most people associate serotonin with brain neurology, but over 95 percent of the body's serotonin occurs in the gastrointestinal tract, which has a complex neuronal circuit that has been called "the second brain" of the body.

5 May 2010

Researchers identify genes associated with cleft lip and/or cleft palate

An international consortium of scientists, led by researchers at Johns Hopkins University has identified two genes that when altered are closely associated with cleft lip and/or cleft palate. Cleft lip and cleft palate are among the world's most common congenital malformations and occur in one in every 700 births. The finding is the result of the largest family-based, genome-wide study of cleft lip and/or cleft palate conducted to date. The results were published online by the journal Nature Genetics.

3 May 2010

Researchers use healthy person's complete genome sequence to predict risk for dozens of diseases

For the first time, researchers have used a healthy person's complete genome sequence to predict his risk for dozens of diseases and how he will respond to several common medications. The risk analysis, from the Stanford University School of Medicine, also incorporates more-traditional information such as a patient's age and gender and other clinical measurements.

30 Apr 2010

Researchers study effects of low-moderate alcohol consumption on bone health in women

For as long as our ancestors have been drawing pictograms or writing prose about food and culture, humans have been imbibing various forms of alcohol. Once simply a process by which nutritious beverages could be preserved and stored for later use, there is no doubt that the production and consumption of wines, beers, and spirits now provides integral texture to the fabric of many cultures.