Inhaled corticosteroids are used by millions of asthma patients every day. However, as with all treatments to control asthma, there is marked patient-to-patient variability in the response to treatment. New research published today in the New England Journal of Medicine (NEJM) has identified a genetic variant associated with the response to inhaled corticosteroids [1]. Investigators have found that asthma patients who have two copies of a specific gene variant responded only one-third as well to steroid inhalers as those with two copies of the regular gene.

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. Recently in the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.

High blood pressure or hypertension affects more than one in three people worldwide and is a major cause of strokes, heart attacks and heart failure [1]. The degree with which blood pressure traits can be inherited suggests a genetic component. However, limited consistent evidence of genes associated with blood pressure have been produced. A new study in the journal Nature Genetics reports for the first time a number of genes showing significant associations with blood pressure and hypertension across the genome [2].

Although large-scale genome-wide association studies (GWAS) have been used successfully to identify genes associated with common diseases and traits, studies on blood pressure or hypertension have failed to identify loci at a genome-wide significant threshold (p-value < 5 x 10^-8). The significance of GWAS data relies on several variables, including the accuracy of phenotypic measures, density of markers and size of the study population. Thus, if blood pressure variation in the general population is due to multiple genetic factors with small effects, a very large sample size is needed to identify them.

This article was written by Noelle K. LoConte, M.D.

Warfarin (brand name Coumadin) is one of the most commonly used anticoagulants (meaning a medication that thins the blood). It is used in a variety of medical situations, including atrial fibrillation, blood clots and when there is an increased risk of blood clotting due to genetic predisposition. When a patient is on warfarin, they need frequent blood draws to measure blood thinness and frequent dose adjustments until they have reached a stable level of blood thinning.

Earlier this month at the 58th Annual Meeting of the American Society of Human Genetics in Philadelphia, researchers reported the results of two genome-wide genetic analyses, identifying five significant loci that contribute to autism susceptibility, three of which have not been reported previously [1], as well as a novel association of genetic variation on chromosome 5 with autism [2].

Today, one in 150 children is diagnosed with autism. In fact, more children will be diagnosed with autism this year than with cancer, diabetes and AIDS combined [3]. Autism is a brain development disorder that impairs a person’s ability to communicate or interact socially. The disorder is associated with restricted and repetitive behavior. While there is no cure for autism, with appropriate treatment and education, many children can learn and develop. The genetics of autism are the focus of much study, as it is unclear whether the disorder is due to rare mutation(s) or multigene interactions.