Genetic risk score

A genetic risk score for Alzheimer’s disease has been developed by an international team of scientists following a study that has cast considerable light on the genetics underlying the condition.

Researchers linked 75 regions of the human genome to Alzheimer’s, 42 of which had never been associated with the disease previously. Results published in the journal Nature Genetics elucidate biological mechanisms behind Alzheimer’s and have the potential to unlock the door to treatment and diagnosis, scientists said.

Cornelia Van Duijn. professor of epidemiology at Oxford Population Health and study co-author, said: “This study has expanded our current understanding of Alzheimer’s disease and opened up new avenues for genetic studies and personalised medicine.

“In addition, the new genetic risk score means that we can conduct clinical studies that specifically test early-stage interventions to treat the underlying disease pathways.  If we can show protective effects at a younger age in those genetically at high risk, we can move the field towards effective, early-stage interventions.”

Among the findings were confirmation that amyloid and tau protein production is a significant risk factor, as are malfunctions in the immune system and the discovery that microglia cells, normally eliminating toxic substances in the central nervous system, may have a role in Alzheimer’s.