Expressive

rs10880819 - NF1P12 - Y_RNA

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseases. - European journal of human genetics : EJHG (2026) · Clancy J, Toivonen J, Lauronen J, Partanen J, Arvas M, Ritari J · PubMed 42045633

    The healthy donor effect (HDE) refers to the lower mortality observed among blood donors compared to the general population. While HDE arises due to healthier individuals being more likely to donate, the extent to which it is influenced by genetic differences remains unclear. To elucidate the genetic basis of HDE, we conducted a genome-wide association study (GWAS) involving 53,688 active blood donors with extensive donation histories and 228,060 controls from biobank cohorts within the FinnGen project. We identified 46 fine-mapped genome-wide significant loci associated with several health-related endpoints, plasma protein levels and laboratory measurements. Genetic correlation analyses across FinnGen endpoints revealed that blood donors are genetically protected against several diseases

  • Genome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 35589863

    ABSTRACT: In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease. Using recent Alzheimer's disease (AD) GWAS results as the base data, we determined each individual's polygenic risk score (PRS) in the UK Biobank dataset. Using individuals within the extreme risk distribution, we performed a GWAS that is agnostic of AD phenotype and is instead based on known genetic risk for disease. To interpret the functions of the new risk factors, we conducted phenotype analyses, including a phenome-wide association study. We identified 246 loci surpassing the significance threshold of which 229 were not reported in the base AD GWAS. These include loci that showed suggestive levels of association in the

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