Single Nucleotide Polymorphisms News and Research

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Scientists identify two genetic risk factors for sagittal craniosynostosis

Seattle Children's Research Institute, together with an international team of scientists and clinicians from 22 other institutions, have identified two genetic risk factors for the most common form of non-syndromic craniosynostosis, a birth defect in which the bony plates of an infant's skull prematurely fuse. The condition is known as sagittal craniosynostosis and often results in an abnormal head shape and facial features.

20 Nov 2012

AGTR2 gene variant predicts risk for preeclampsia

Carriers of a variant of the angiotensin II receptor, type 2 gene have increased risk for preeclampsia during pregnancy if they are also overweight or obese, show study results published in Placenta.

19 Nov 2012

Two genetic factors strongly associated with non-syndromic sagittal craniosynostosis

An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic craniosynostosis ― premature closure of the bony plates of the skull.

18 Nov 2012

Vitiligo patients have low risk for skin cancer

Evidence suggests that patients with vitiligo have a reduced risk for both melanoma and nonmelanoma skin cancer.

16 Nov 2012

Myasthenia gravis therapies: an interview with Professor Daniel Drachman

Myasthenia gravis (MG) is an autoimmune disease that produces weakness and fatiguability of muscles. It affects between 1 and 7 people per 10,000, according to the best statistics.

15 Nov 2012

MRC funds largest ever study of genetics relating to lung disease

Researchers from the Universities of Nottingham and Leicester are leading the largest ever study of the genetics relating to lung disease.

15 Nov 2012

Genetic polymorphisms linked with community-acquired pneumonia

Seven genetic polymorphisms have been shown to be associated with community-acquired pneumonia, research shows.

5 Nov 2012

Fluidigm unveils four innovative devices to meet challenges associated with production genomics

Fluidigm Corporation today introduced four new integrated fluidic circuits (IFCs) designed to meet the challenges associated with production genomics.

2 Nov 2012

C allele of rs1329650 may increase risk of both ADHD and smoking

A variation of a particular gene may link the behaviours typical of childhood attention hyperactivity disorder, or ADHD for short, and those associated with smoking, suggests research published online in the Archives of Disease in Childhood.

30 Oct 2012

Study identifies genetic variations as predictors of prostate cancer-related fatigue

Researchers at Moffitt Cancer Center and the University of South Florida have found that men with prostate cancer who receive androgen deprivation therapy may predictably suffer from fatigue if they have single nucleotide polymorphisms in three pro-inflammatory genes. The discovery highlights the importance of personalized medicine, in which therapies are tailored to a patient's genetic profile.

29 Oct 2012

Donor gene clue to kidney transplant rejection

Genetic study results show that long-term kidney transplant rejection risk may be increased if the organ donor has a variant form of the multidrug resistance 1 gene.

23 Oct 2012

Accumulation of small genetic variations could increase risk of ASD

An increased risk of autism spectrum disorders (ASD) could result from an accumulation of many small, common genetic variations rather than large-effect, rare changes in the genetic code, according to a multicenter team led by researchers at the University of Pittsburgh School of Medicine.

16 Oct 2012

Empire BlueCross BlueShield introduces Medicare Advantage plans in New York City

Empire BlueCross BlueShield is introducing a number of Medicare Advantage (MA) plans in New York City that include access to the acclaimed CareMore health delivery system, which helps members maintain their health.

15 Oct 2012

Common genetic polymorphisms can increase risk of autism spectrum disorders

The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research published in BioMed Central's open access journal Molecular Autism shows that common genetic polymorphisms (genetic variation) can add up to an increased risk of ASD.

15 Oct 2012

NFKB1 gene variant may reduce risk of lung cancer

A variant in a gene involved with inflammation and the immune response is linked with a decreased risk of lung cancer. That is the finding of an analysis published early online in CANCER, a peer-reviewed journal of the American Cancer Society. The results add to the growing body of literature implicating these processes in the development of lung cancer.

8 Oct 2012

Researchers discover 8 new loci associated with susceptibility to atopic dermatitis

Researchers at the RIKEN Center for Genomic Medicine (CGM) and their colleagues have identified 8 new loci associated with susceptibility to atopic dermatitis in the Japanese population.

8 Oct 2012

Progress toward preventing initial and recurrent episodes of C. diff infection

Surgeons are making progress toward preventing initial and recurrent episodes of clostridium difficile colitis (C. difficile or C. diff), a vicious bacterial infection that is estimated to affect about 336,000 people each year, typically patients on antibiotics.

6 Oct 2012

Genetic profile predicts postradiation erectile dysfunction

Scientists have identified a group of genetic markers that can predict the risk for erectile dysfunction after radiotherapy for prostate cancer.

1 Oct 2012

Scientists discover 12 genetic markers for ED in prostate cancer patients after radiotherapy

In the first study of its kind, a research team led by Mount Sinai School of Medicine and Albert Einstein College of Medicine of Yeshiva University discovered 12 genetic markers associated with the development of erectile dysfunction (ED) in prostate cancer patients who were treated with radiation.

27 Sep 2012

Genome-wide epigenomic screening can pinpoint thyroid disease-associated variants

Genome-wide epigenomic screening can pinpoint disease-associated variants and identify novel genetic-epigenetic interactions in autoimmune thyroid diseases, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

24 Sep 2012