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- W3131869192 abstract "Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. To investigate homozygosity in AD, here we performed a fine-scale ROH analysis using 10 independent cohorts of European ancestry (11,919 AD cases and 9181 controls.) We detected an increase of homozygosity in AD cases compared to controls [βAVROH (CI 95%) = 0.070 (0.037-0.104); P = 3.91 × 10-5; βFROH (CI95%) = 0.043 (0.009-0.076); P = 0.013]. ROHs increasing the risk of AD (OR > 1) were significantly overrepresented compared to ROHs increasing protection (p < 2.20 × 10-16). A significant ROH association with AD risk was detected upstream the HS3ST1 locus (chr4:11,189,482‒11,305,456), (β (CI 95%) = 1.09 (0.48 ‒ 1.48), p value = 9.03 × 10-4), previously related to AD. Next, to search for recessive candidate variants in ROHs, we constructed a homozygosity map of inbred AD cases extracted from an outbred population and explored ROH regions in whole-exome sequencing data (N = 1449). We detected a candidate marker, rs117458494, mapped in the SPON1 locus, which has been previously associated with amyloid metabolism. Here, we provide a research framework to look for recessive variants in AD using outbred populations. Our results showed that AD cases have enriched homozygosity, suggesting that recessive effects may explain a proportion of AD heritability." @default.
- W3131869192 created "2021-03-01" @default.
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- W3131869192 date "2021-02-24" @default.
- W3131869192 modified "2023-10-18" @default.
- W3131869192 title "Long runs of homozygosity are associated with Alzheimer’s disease" @default.
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- W3131869192 doi "https://doi.org/10.1038/s41398-020-01145-1" @default.
- W3131869192 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7904832" @default.
- W3131869192 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33627629" @default.
- W3131869192 hasPublicationYear "2021" @default.
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