Lack of Association Between the CCR5-delta32 Polymorphism and Neurodegenerative Disorders

• Published in: Alzheimer disease and associated disorders Vol. 34; no. 3; p. 244
• Main Authors: Wojta, Kevin J, Ayer, Ariane H, Ramos, Eliana M, Nguyen, Peter D, Karydas, Anna M, Yokoyama, Jennifer S, Kramer, Joel, Lee, Suzee E, Boxer, Adam, Miller, Bruce L, Coppola, Giovanni
• Format: Journal Article
• Language: English
• Published: United States 01.07.2020
• ISSN: 1546-4156
• DOI: 10.1097/WAD.0000000000000367

Recent studies have suggested that diminished Ccr5 functioning has an effect on synaptic plasticity and hippocampal memory in mouse models. CCR5-delta32, a 32-bp frameshift deletion in human CCR5 encoding a nonfunctional receptor, has been reported to have a protective effect against human immunodeficiency virus infection but its role as a modifier of neurodegenerative disease has been minimally explored. We investigated whether the CCR5-delta32 polymorphism could have an effect in the context of human neurodegenerative diseases. We examined the frequency of the CCR5-delta32 polymorphism in a large and well-characterized cohort including 1425 patients with neurodegenerative dementias and 2032 controls. We did not observe a significant association between the CCR5-delta32 polymorphism and any of the neurodegenerative diseases screened in this study. However, we observed an earlier age of onset among neurodegenerative disease patients carrying the CCR5-delta32 allele. Although our findings were inconclusive, the earlier age of onset observed among neurodegenerative disease patients carrying the CCR5-delta32 allele suggests that the deletion may have a detrimental effect in the context of neurodegeneration.