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Genetic Variation in Imprinted Genes is Associated with Risk of Late-Onset Alzheimer's Disease

Article type: Research Article

Authors: Chaudhry, Mamoonaha | Wang, Xingbinb | Bamne, Mikhil N.b | Hasnain, Shahidaa; c | Demirci, F.Yesimb | Lopez, Oscar L.d; e | Kamboh, M. Ilyasb; e; *

Affiliations: [a] Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan | [b] Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA | [c] The Women University Multan, Multan, Pakistan | [d] Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA | [e] Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, PA, USA

Correspondence: [*] Correspondence to: Prof. M. Ilyas Kamboh, Graduate School of Public Health Department of Human Genetics, University of Pittsburgh, 130 Desoto Street, 15261 PA, USA. Tel.: +1 412 624 3066; E-mail: [email protected].

Keywords: Brain, gene expression, imprinting, late onset Alzheimer's disease

DOI: 10.3233/JAD-142106

Journal: Journal of Alzheimer's Disease, vol. 44, no. 3, pp. 989-994, 2015

Accepted 8 October 2014
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Published: 6 February 2015
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Abstract

Epigenetic changes including genomic imprinting may affect risk of late-onset Alzheimer's disease (LOAD). There are >100 known imprinted genes and most of them are expressed in human brain. In this study, we examined the association of single nucleotide polymorphisms (SNPs) in 93 imprinted genes with LOAD risk in 1291 LOAD cases and 958 cognitively normal controls. We performed single-site, gene-based, and haplotype analyses. Single-site analysis showed 14 significant associations at p < 0.01. The most significant SNP (rs11770199; p = 0.0003) in single-site analysis was located on chromosome 7 in the GRB10 gene. Gene-based analyses revealed four significant associations in the WT1, ZC3H12C, DLGAP2, and GPR1 genes at p < 0.05. The haplotype analysis also revealed significant associations with three genes (ZC3H12C, DLGAP2, and GPR1). These findings suggest a possible role of imprinted genes in AD pathogenesis that show specific expression in the brain.

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