Genetic Variation Found to Increase the Risk of Adrenal Suppression - European Medical Journal

Genetic Variation Found to Increase the Risk of Adrenal Suppression

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EFFICACY and safety of corticosteroid treatment for asthma and COPD could be improved following the identification of a genetic variant that causes adrenal suppression, a side effect of this sort of therapy in up to one-third of patients tested. The study, conducted by researchers from the University of Liverpool, Liverpool, UK, could provide the basis for more personalised treatment approaches in the future.

Genome-Wide Study

For the first time ever, a genome-wide association study was undertaken to identify the genes that increase the risk of developing adrenal suppression. In a cohort of 580 children with asthma and a group of adults with COPD who used inhaled corticosteroids, researchers searched for single nucleotide polymorphisms (SNP) to observe whether a particular SNP occurred more frequently in patients who were at risk of adrenal suppression; this risk was established by testing each patient’s adrenal function.

Increased Risk

The team observed that there was a markedly increased risk of adrenal suppression in those individuals who had a particular variation in the PDGFD gene. This risk was further increased if the patient had two copies of the variation: one each from their mother and father. It was also calculated that there was a 6-fold higher chance of developing adrenal suppression in children with two copies of the variation in PDGFD compared to children with no copies.

Personalised Care

The researchers believe their findings could enable the adoption of different, more personalised treatments for those patients who are at risk of adrenal suppression. “This is the first pharmacogenomic study investigating the association between a patient’s genotype and corticosteroid induced adrenal suppression,” commented Dr Dan Hawcutt, University of Liverpool. “Our highly novel findings offer the potential to develop personalised approaches to therapy. This could involve screening patients to avoid or minimise steroid use if they are at high risk, or if steroids are needed, developing a specific plan to monitor their adrenal function.”

He added: “However, it is important to stress that steroids are effective medications, and patients should not stop taking these medicines without medical input. If you are worried about any side effects, please consult your doctor, nurse, or pharmacist looking after you.”


James Coker, Reporter

For the source and further information about the study, click here.

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