Study links gene mutation to high blood pressure

A common gene mutation has been identified that may be an important cause of high blood pressure.

Around 20% of the white population are thought to have the gene variant, which affects the way the kidneys process salt.

Scientists believe a number of genes play a role in hypertension, or high blood pressure.

But identifying them is difficult because so many other factors influence blood pressure, including diet, exercise and stress levels.

The new discovery was made by analysing the DNA of 542 members of the Old Order Amish community in Pennsylvania, US.

The Amish are a Christian group who choose to live without electricity, motor transport or other trappings of modern life.

Because they do not marry outside their community the Amish are genetically homogenous. They also share a similar diet and rural lifestyle. For this reason they are ideal subjects for studies looking at the genetic causes of disease.

The researchers scanned 100,000 genetic markers looking for single letter variants in the genetic code linked to high blood pressure.

They found a strong association between a particular version of the gene STK39 and an increased risk of hypertension.

Study leader Dr Yen-Pei Christy Chang, from the University of Maryland School of Medicine in Baltimore, US, said: “This discovery has great potential for enhancing our ability to tailor treatments to the individual – what we call personalised medicine – and to more effectively manage patients with hypertension.

“We hope that it will lead to new therapies to combat this serious public health problem worldwide.

“Hypertension is a very complex condition, with numerous other genetic, environmental and lifestyle factors involved. The STK39 gene is only one important piece of the puzzle. We want to determine how people with different variations of this gene respond to diuretics and other medications, or to lifestyle changes, such as reducing the amount of salt in their diet. This information might help us discover the most effective way to control an individual patient’s blood pressure.”

The findings were published online yesterday in the journal Proceedings of the National Academy of Sciences.

Doctors consider the ideal blood pressure reading to be 120/80 millimetres of mercury (mmHg). The first figure refers to systolic blood pressure which coincides with each beat of the heart. The second relates to resting period between beats.

High blood pressure is usually defined as having a sustained blood pressure of 140/90mmHg or above.

Hypertension is a major risk factor for artery disease, strokes and heart attacks.

Excess sodium from too much salt in the diet is associated with high blood pressure.