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Rachele Cagliani, Franca R. Guerini, Raquel Rubio-Acero, Francesca Baglio, Diego Forni, Cristina Agliardi, Ludovica Griffanti, Matteo Fumagalli, Uberto Pozzoli, Stefania Riva, Elena Calabrese, Martin Sikora, Ferran Casals, Giacomo P. Comi, Nereo Bresolin, Mario Cáceres, Mario Clerici and Manuela Sironi Long-Standing Balancing Selection in the THBS4 Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease Human Mutation 34

Version of Record online: 2 APR 2013 | DOI: 10.1002/humu.22301

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The THBS4 gene encodes a glycoprotein involved in inflammation and synaptogenesis. We show that a region in THBS4 represents a balancing selection target. Two major haplogroups are maintained in human populations and modulate THBS4 expression levels in lymphocytes. Variants in the balancing selection region also interact with sex in influencing THBS4 expression in the brain; in Alzheimer disease patients significant interactions between sex and THBS4 genotype were detected for grey matter volumes.

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