Coronary artery disease is the leading cause of death among people with type 2 diabetes. Physicians can assess the extent of the risk fairly precisely if the person is suffering from diabetes. Weight, glucose level and family history are all very clear indicators. According to a study by the Joslin Diabetes Center, genetic tests can make a further contribution.

Until recently, it was a common belief that genetic testing did little to predict coronary artery disease. The study in question has shown that analyzing genetic factors can help to get more precise diagnoses.

The team of Dr. Alessandro Doria has analyzed the genes related to coronary artery present throughout the population. Previously it was believed that the risk of developing the disease derived from 160 gene locations. The researchers analyzed the behavior of these variants in people with type 2 diabetes. The results were positive and significantly improved predictive accuracy.

According to the study, the addition of genetic analysis to clinical criteria allows anticipation of predictions. As a result, it is possible to take action much earlier, so as to reduce the risk of the disease manifesting itself. Nevertheless, the genetic test proved to be of little use in determining the best type of treatment.

In a previous study, Dr. Doria and his colleagues had identified two genes useful for deciding which treatments were best. The next step will therefore be to focus on these two genes, in order to deepen the question.

Source: eurekalert.org

A study by the Wellcome Sanger Institute reveals that the genetic causes behind certain neuro-behavioral disorders are far more complex than previously thought. Researchers have found that some rare diseases are linked to a combination of common genetic variants, rather than just a few rare variants. This makes diagnosis and prediction much more complicated. On the other hand, the study will help researchers better understand obscure diseases today.

Before the study, it was thought that certain behavioral diseases were caused only by rare genetic variants. Still, there were unclear details. In the presence of the same rare genetic variant, some patients had very severe symptoms and some did not. In some cases, the symptoms were completely different.

It was thought that the common genetic variants acted only on equally common disorders: diabetes, cardiovascular disease and so on. Instead, they appear to play an important role in the development of rare neuro-behavioral disorders. Their presence would act on rare genetic variants, increasing the risk of developing diseases such as schizophrenia and autism.

Researchers studied the genome of nearly 7,000 children with a wide range of neuro-behavioral disorders. They compared data with those of a control group. In particular, they tested 4 million common genetic variations. In this way they discovered that these variants also played a role in the development of rare diseases.

The study shows that it is not enough just a gene to cause certain diseases: their development is much more complex. Once this is discovered, the next step will be to understand how to use the discovery to diagnose and combat these diseases.

Source: sanger.ac.uk

The oldest DNA in Europe is in Sardinia and in particular in the areas of Ogliastra and Barbagia. This is revealed by a research published in Nature Genomics, conducted on 3,514 Sardinians. At the helm of the team was Dr. Francesco Cucca, director of the Cnr-Irgb and professor of medical genetics in Sassari.

The inhabitants of these areas conserve high percentages of the genetic heritage of a particular Neolithic population. Their ancestors were Middle Eastern farmers, belonging to pre-Neolithic hunter-gatherer communities. They lived in Europe as early as 7-10 thousand years ago, even before the Euro-Asian populations that would have spread in the Bronze Age. This makes the Sardinians a population much more similar to the Basques than to the rest of the Italians, at least from the genetic point of view.

The genetic heritage of the Sardinians is a mix of the DNA of the early Neolithic peasants and pre-Neolithic hunter-gatherers. This second type of DNA is the most interesting one. Compared to other European populations, the Sardinians have a higher percentage of pre-Neolithic genetic heritage. In fact, due to the isolation of the island, populations from the Euro-Asian steppes have contributed relatively little to the Sardinian gene pool.

In the rest of Europe, the Neolithic and Pre-Neolithic genetic heritage has been diluted with the generations. In Sardinia, the phenomenon has been more limited. For this reason, scientists believe that Sardinia could be a reserve of lost genetic variants. Some of these could even belong to the Proto-European baseline, almost completely disappeared in continental Europe. Beyond the purely scientific interest, these variations could help us understand and fight certain genetic diseases.

Source: ansa.it