Why are Black people more likely to develop glaucoma? Scientists discover new clues – The Mercury News

Tom April | The Philadelphia Inquirer (TNS)

A team led by scientists at the University of Pennsylvania has discovered three genetic variants that offer the first strong clues about why glaucoma disproportionately affects black people.

The variants are common among people of African descent and are associated with a significantly higher risk of developing the sight-robbing disease, researchers found in their study of more than 11,000 volunteers, including 6,300 from the region from Philadelphia.

Further research is needed to determine whether these variants – each made up of a single “letter” of the 3 billion letter pairs that describe the human genome – play a direct role in the onset of glaucoma. But if they hold up to scrutiny, the findings could one day be used to develop better treatments and identify people who might benefit from them, said Shefali Setia Verma, one of the study’s lead authors and an assistant professor. at Penn’s Perelman School of Medicine.

“The idea is that this can help identify people who are most at risk before symptoms appear,” she said.

Previous studies have discovered more than 170 other genetic variants involved in glaucoma, a disease in which the optic nerve is damaged, often due to increased pressure inside the eye. But most of these studies have been conducted in white or Asian populations, despite the fact that glaucoma is more common in black people and, when it occurs, is more likely to lead to blindness.

And most of the genetic variants discovered in those previous studies were found to play little or no role in getting the disease in Black people, illustrating the need for diversity in the populations studied, said Penn physician-scientist Joan M. O’Brien. .

“It was a hugely unmet need,” she said.

Gaining the trust of black patients

That’s what prompted O’Brien, Verma and their colleagues to launch the new study, which is one of the first — and by far the largest — conducted among Black people.

O’Brien blamed the lack of studies in part on the legitimate reluctance of many blacks toward medical research, citing examples of misconduct such as the Tuskegee experiment in which black men were not treated for syphilis.

Persistent bias in medicine continues to contribute to mistrust. For example, black patients are less likely than white patients to receive painkillers and less likely to be admitted to the hospital from the emergency room. Until recently, they had to wait longer than white patients to get a kidney transplant.

“There are clearly reasons why individuals of African descent are wary of academics, medicine and many things related to science,” she said. “That doesn’t exempt us from trying to engage people of African descent.”