Diversity key to understanding genetics of neurodegenerative disease

CHICAGO — While population and phenotypic diversity are crucial to discovering the root cause of genetic variations that lead to neurodegenerative disease, the answers are not always clear, according to a presenter at ANA 2022.

“My lab is interested in applying genomic technologies to find genes, mutations, variants that cause neurodegenerative diseases,” Rita Guerreiro, MSc, PhD, of the department of neurodegenerative science at the Van Andel Institute in Grand Rapids, Michigan, said during her presentation.

According to Guerreiro, there is a distinct lack of diversity in studies of genetics related to Alzheimer’s disease, with more than 60% of existing research centered around populations of European ancestry compared with 5% on African American or Afro-Caribbean populations, 3.5% on Hispanic or Latin American and 1.4% on Native American.

On the other hand, she continued, studies that involve diversity can advance the body of knowledge in the field more so than studies on specific populations themselves. Population diversity dictates phenotypic diversity, and several factors such as geographic isolation, the number of ethnic groups and their intersection or lack thereof, can all lead to discovery of rare or common disease variants, Guerreiro said.

Guerreiro discussed a study of dementia in a Turkish population with a high frequency of consanguinity. Here, she said, the challenges in defining the phenotypic spectrum of a gene may not be so daunting due to a large population sample.

“It’s essential to have diversity at the level of populations, but also phenotypes, to properly understand the genetics of neurodegenerative diseases,” Guerreiro said.