Long runs of homozygosity are associated with Alzheimer's disease.

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 [β_AVROH (CI 95%) = 0.070 (0.037-0.104); P = 3.91 × 10^-5; β_FROH (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

SUBMITTER: Moreno-Grau S 

PROVIDER: S-EPMC7904832 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature