Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome☆
نویسندگان
چکیده
It is known that Alzheimer's disease (AD) presents at an early age in people with Down syndrome (DS). The trisomy 21 in DS provides an opportunity to study the effect of duplicated genes in AD. APP and BACE2 are 2 genes located in chromosome 21 and related to AD. We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia. Of the 83 single-nucleotide polymorphisms (SNPs), 6 were associated with age of onset and another 8 SNPs were borderline associated. Our finding also replicated a previous study showing association of rs2252576 with AD.
منابع مشابه
Erratum to “Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome” [Neurobiol. Aging 35 (2014) 1513.e1–1513.e5]
In the above-mentioned article, an error in the text on page 1513.e3 has been noted. In the second paragraph of the section “RESULTS”, the last sentence says, “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”. Th...
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عنوان ژورنال:
دوره 35 شماره
صفحات -
تاریخ انتشار 2014