rs10953388 - RELN

Magnitude 2.2 · 2 studies on file

Reported associations

• Genome-wide association study of rate of cognitive decline in Alzheimer's Disease patients identifies novel genes and pathways - Unknown journal (n.d.) · Unknown authors · PubMed 32573913

  ABSTRACT: INTRODUCTION: Variability exists in the disease trajectories of Alzheimer's disease (AD) patients. We performed a genome-wide association study to examine rate-of-cognitive-decline (ROD) in AD patients. METHODS: We tested for interactions between genetic variants and time since diagnosis to predict the ROD of a composite cognitive score in 3,946 AD cases and performed pathway analysis on the top genes. RESULTS: Suggestive associations (p<1.0×10−6) were observed on chromosome 15 in DNA polymerase-γ (rs3176205, p=1.11×10−7), chromosome 7 (rs60465337, p=4.06×10−7) in contactin-associated protein-2, in RP11-384F7.1 on chromosome 3 (rs28853947, p=5.93×10−7), and family with sequence similarity 214 member-A on chromosome 15 (rs2899492, p=5.94×10−7), and intergenic r

• Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms - Unknown journal (n.d.) · Unknown authors · PubMed 30696823

  ABSTRACT: Being a morning person is a behavioural indicator of a person's underlying circadian rhythm. Using genome-wide data from 697,828 UK Biobank and 23andMe participants we increase the number of genetic loci associated with being a morning person from 24 to 351. Using data from 85,760 individuals with activity-monitor derived measures of sleep timing we find that the chronotype loci associate with sleep timing: the mean sleep timing of the 5% of individuals carrying the most morningness alleles is 25 min earlier than the 5% carrying the fewest. The loci are enriched for genes involved in circadian regulation, cAMP, glutamate and insulin signalling pathways, and those expressed in the retina, hindbrain, hypothalamus, and pituitary. Using Mendelian Randomisation, we show that being

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