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Member Research & Reports

Member Research & Reports

Kentucky Researchers Report on Genes Linked to Aging Neuropathology

Dr. David Fardo, associate professor, University of Kentucky College of Public Health Department of Biostatistics, and Yuriko Katsumata, Biostatistics graduate research assistant, worked with other UK researchers on the paper “Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2,” which appeared online in Neurobiology of Aging on January 9, 2017. Dr. Fardo is also faculty associate in the Sanders-Brown Center on Aging, a federally-funded Alzheimer’s Disease Center.

[Photo: Dr. David Fardo]

Hippocampal sclerosis of aging (HS-Aging) is a common neurodegenerative condition associated with dementia. To learn more about genetic risk of HS-Aging pathology, researchers tested gene-based associations of the GRNTMEM106BABCC9, and KCNMB2 genes, which were reported to be associated with HS-Aging pathology in previous studies. Genetic data were obtained from the Alzheimer’s Disease Genetics Consortium, linked to autopsy-derived neuropathological outcomes from the National Alzheimer’s Coordinating Center.

Of the 3251 subjects included in the study, 271 (8.3%) were identified as an HS-Aging case. The significant gene-based association between the ABCC9 gene and HS-Aging appeared to be driven by a region in which a significant haplotype-based association was found. The researchers tested this haplotype as an expression quantitative trait locus using 2 different public-access brain gene expression databases. The HS-Aging pathology protective ABCC9 haplotype was associated with decreased ABCC9 expression, indicating a possible toxic gain of function.