Single Nucleotide Polymorphisms News and Research

RSS

Mitochondrial variations unlikely cause of osteoarthritis

Researchers have been unable to confirm a link between the development of osteoarthritis and maternally inherited mitochondrial DNA variants.

17 Sep 2012

Melbourne researchers develop genetic test to predict risk of autism spectrum disorder

A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing Autism Spectrum Disorder, ASD.

13 Sep 2012

Genetic test predicts risk for Autism

A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing Autism Spectrum Disorder, ASD.

11 Sep 2012

Sifting through the junk with ENCODE

The first large-scale results from the ENCylopedia Of DNA Elements Consortium have shed light on possible functions of large areas of the genome previously thought of as “junk DNA.”

10 Sep 2012

Researchers identify genetic variations linked with onset of Barrett's oesophagus

Genetic variations that are linked with the onset of Barrett's oesophagus (BE), a pre-cancerous condition of the lower end of the gullet, have been identified for the first time. The discovery of variations in regions on two chromosomes makes it possible to develop screening tests for people at high risk of developing the disease.

10 Sep 2012

Study sheds new light on why most bone marrow transplant patients suffer acute GVHD

A team of scientists led by a bone marrow transplant researcher at Fred Hutchinson Cancer Research Center has shed new light on why most bone marrow transplant patients who receive tissue-matched cells from unrelated donors still suffer acute graft-versus-host disease (GVHD).

6 Sep 2012

Researchers identify several genetic factors linked to C-reactive protein

African Americans have higher blood levels of a protein associated with increased heart-disease risk than European Americans, despite higher "good" HDL cholesterol and lower "bad" triglyceride levels. This contradictory observation now may be explained, in part, by a genetic variant identified in the first large-scale, genome-wide association study of this protein involving 12,000 African American and Hispanic American women.

31 Aug 2012

People with guanine version of rs55705857 SNP more likely to develop gliomas

People who carry a "G" instead of an "A" at a specific spot in their genetic code have roughly a six-fold higher risk of developing certain types of brain tumors, a Mayo Clinic and University of California, San Francisco study has found. The

27 Aug 2012

Genetic key to severe malaria resistance uncovered

Researchers have identified two genetic variants linked with human resistance to severe malaria.

21 Aug 2012

Two papers may help identify gene variants that contribute to OCD or Tourette syndrome

Two papers that will appear in the journal Molecular Psychiatry, both receiving advance online release, may help identify gene variants that contribute to the risks of developing obsessive-compulsive disorder (OCD) or Tourette syndrome (TS). Both multi-institutional studies were led by Massachusetts General Hospital (MGH) investigators, and both are the first genome-wide association studies (GWAS) in the largest groups of individuals affected by the conditions.

15 Aug 2012

Folate, excision biomarkers not predictive for small-cell lung cancer response

Biomarkers associated with the folate metabolism and excision repair pathways are not sufficiently prognostic to aid chemotherapy decisions for patients with extensive-stage disease small-cell lung cancer, results of a phase III trial show.

8 Aug 2012

ANCA-associated vasculitis not a single clinical entity

Study findings show distinct subtypes of antineutrophil cytoplasmic antibody-associated vasculitis, distinguished by the target of autoantigen reactivity.

25 Jul 2012

Study identifies genetic markers that influence protein involved in regulating oestrogen, testosterone levels

A research study led by the Peninsula College of Medicine and Dentistry, University of Exeter, and Boston University School of Medicine, in collaboration with a global consortium, has identified genetic markers that influence a protein involved in regulating oestrogen and testosterone levels in the bloodstream.

21 Jul 2012

Study identifies genetic markers that influence sex hormone-binding globulin

A research study led by Boston University School of Medicine (BUSM) and the University of Exeter in the United Kingdom, in collaboration with a global consortium, has identified genetic markers that influence a protein involved in regulating estrogen and testosterone levels in the bloodstream.

21 Jul 2012

Statistical method uses evolutionary information to enhance identification of disease-associated alleles

A book containing misprints may cause annoyance for the reader, but typos in an individual's genetic blueprint (DNA) can mean serious disease or even death. The search for genetic correlates for the wide range of diseases plaguing humankind has inspired a wealth of research falling under the heading of genome-wide association studies (GWAS).

19 Jul 2012

Wake Forest, UCSD develop new genetic test for prostate cancer

Karim Kader, MD, PhD, associate clinical professor at the UC San Diego School of Medicine, together with a team of researchers from Wake Forest University School of Medicine, have developed a genetic test to predict a man's risk for prostate cancer. Use of the test could reduce the need for repeat biopsies in men who have had a negative biopsy.

18 Jul 2012

Osteoarthritis gene tic markers identified

Scientists have used data from the Arthritis Research UK Osteoarthritis Genetics study to identify five gene loci significantly associated with the development of the disease.

10 Jul 2012

23andMe identifies seven SNPs associated with breast size

Using data from its unique online research platform, 23andMe, a leading personal genetics company, has identified seven single-nucleotide polymorphisms (SNPs) significantly associated with breast size, including three SNPs also correlated with breast cancer in a genome-wide association study (GWAS) now published online in BMC Medical Genetics.

4 Jul 2012

FOXO1 gene may play an important role in pathological mechanisms of Parkinson's

A recent study led by researchers at Boston University School of Medicine (BUSM) revealed that the FOXO1 gene may play an important role in the pathological mechanisms of Parkinson's disease.

29 Jun 2012

Researchers identify genes that influence degeneration of the hippocampus

In a genome-wide association (GWA) study, researchers from Boston University Schools of Medicine (BUSM) and Public Health (BUSPH) have identified several genes which influence degeneration of the hippocampus, the part of the brain most associated with Alzheimer disease (AD).

29 Jun 2012