Expressive

rs117797822 - NTN1

Magnitude 4.5 · 2 studies on file

Reported associations

  • Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations - Unknown journal (n.d.) · Unknown authors · PubMed 37359372

    ABSTRACT: Introduction: Color vision defects (CVDs) are conditions characterized by the alteration of normal trichromatic vision. CVDs can arise as the result of alterations in three genes (OPN1LW, OPN1MW, OPN1SW) or as a combination of genetic predisposition and environmental factors. To date, apart from Mendelian CVDs forms, nothing is known about multifactorial CVDs forms. Materials and Methods: Five hundred and twenty individuals from Silk Road isolated communities were genotyped and phenotypically characterized for CVDs using the Farnsworth D-15 color test. The CVDs traits Deutan-Protan (DP) and Tritan (TR) were analysed. Genome Wide Association Study for both traits was performed, and results were corrected with a False Discovery Rate linkage-based approach (FDR-p). Gene expression o

  • Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus - Unknown journal (n.d.) · Unknown authors · PubMed 36810956

    ABSTRACT: Abstract Background Although recent sequencing studies have revealed that 10% of childhood gliomas are caused by rare germline mutations, the role of common variants is undetermined and no genome-wide significant risk loci for pediatric central nervous system tumors have been identified to date. Methods Meta-analysis of 3 population-based genome-wide association studies comprising 4069 children with glioma and 8778 controls of multiple genetic ancestries. Replication was performed in a separate case-control cohort. Quantitative trait loci analyses and a transcriptome-wide association study were conducted to assess possible links with brain tissue expression across 18 628 genes. Results Common variants in CDKN2B-AS1 at 9p21.3 were significantly associated with astrocytoma, the m

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