rs11605469 - SMCO4 - RN7SL223P

Magnitude 2.2 · 2 studies on file

Reported associations

• Genetic variants and functional pathways associated with resilience to Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 32844198

  ABSTRACT: Why are some individuals able to tolerate severe Alzheimer's disease pathology without experiencing dementia? Dumitrescu et al. perform a large genome-wide analysis of resilience to Alzheimer's disease and highlight several biological pathways that may protect the brain from the downstream consequences of amyloidosis. Abstract Approximately 30% of older adults exhibit the neuropathological features of Alzheimer's disease without signs of cognitive impairment. Yet, little is known about the genetic factors that allow these potentially resilient individuals to remain cognitively unimpaired in the face of substantial neuropathology. We performed a large, genome-wide association study (GWAS) of two previously validated metrics of cognitive resilience quantified using a latent v

• Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes - Unknown journal (n.d.) · Unknown authors · PubMed 33972514

  ABSTRACT: Serum concentration of hepatic enzymes are linked to liver dysfunction, metabolic and cardiovascular diseases. We perform genetic analysis on serum levels of alanine transaminase (ALT), alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) using data on 437,438 UK Biobank participants. Replication in 315,572 individuals from European descent from the Million Veteran Program, Rotterdam Study and Lifeline study confirms 517 liver enzyme SNPs. Genetic risk score analysis using the identified SNPs is strongly associated with serum activity of liver enzymes in two independent European descent studies (The Airwave Health Monitoring study and the Northern Finland Birth Cohort 1966). Gene-set enrichment analysis using the identified SNPs highlights involvement in liver developm

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