Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome.

Our SNPs with nominal and borderline significance were observed mainly around the 3′ end and not in the 5′UTR region.

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The most significant SNP, rs7287133 is in linkage disequilibrium (LD) with some other significant SNPs and borderline significant SNPs ( Supplementary Fig. 1 ), suggesting that the haplotype in this region is probably important for AD. 4 Discussion There are 2 major limitations in the present study.

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We have previously shown that in DS polymorphisms in PICALM and APOE are associated with AOO of dementia, and there is a nonsignificant trend in risk allele loading derived from AD meta-analysis ( Jones et al., 2013 ).

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