Examining Alzheimer disease risk in males and females

Examining Alzheimer disease risk in males and females

Women make up nearly two-thirds of all Alzheimer’s disease (AD) cases in the United States and these differences are likely due to contributions from differences in biology and/or environmental effects between the sexes. While several small studies have identified genetic associations that differ between males and females, no large-scale association analysis of AD focused on finding male and female specific genetic effects has been conducted. Furthermore, the biological underpinnings of any genetic effects, including how they may impact gene expression to influence genetic risk in males and females differently, are still largely unknown.

This research study at the John P. Hussman Institute for Human Genomics (HIHG) focuses on identifying how biological changes in our genome (i.e. genetic, epigenetic and gene-expression changes) operate in a sex-specific manner to explain at least part of the sex disparity in AD prevalence.

The HIHG team is leveraging existing large-scale genetic data from several consortia studies in AD, as well as expression and methylation data from brain and blood tissue of AD cases and healthy individuals. We hope sex-aware analysis of this data will provide a more complete understanding of the genomic programs underlying sex differences in AD, which will lead to better prevention, diagnosis and individualized treatment strategies.

University of Miami Principal Investigators

Eden R. Martin, Ph.D.

Brian W. Kunkle, Ph.D., M.P.H.

Lily Wang, Ph.D.