Expressive

rs1062158 - NDFIP1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic relationships between high blood eosinophil count, asthma susceptibility, and asthma severity. - The Journal of asthma : official journal of the Association for the Care of Asthma (2024) · Li H, Li X · PubMed 37560908

    Genetic relationships between blood eosinophil count (BEC), asthma susceptibility, and severity are unclear. We sought to identify the genetic difference between type 2 (T2) and nontype 2 (non-T2) asthma (defined by BEC) and investigate genetic relationships between high BEC, asthma susceptibility, and severity. Genome-wide association studies (GWASs) were performed for T2 ( = 9,064; BEC ≥ 300 cells/μL) versus non-T2 asthma ( = 14,379; BEC < 150 cells/μL) and asthma susceptibility (37,227 asthmatics vs. 124,132 nonasthma controls) in the UK Biobank and asthma severity (moderate-to-severe asthma [ = 2,153] vs. mild asthma [ = 5165]) in the All of Us Research Program (AoURP). Genetic causality between BEC, asthma susceptibility, and severity were dissected using Mendelian randomi

  • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis - Unknown journal (n.d.) · Unknown authors · PubMed 21833088

    ABSTRACT: Multiple sclerosis (OMIM 126200) is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals; and systematic attempts to identify linkage in multiplex families have confirmed that variation within the Major Histocompatibility Complex (MHC) exerts the greatest individual effect on risk. Modestly powered Genome-Wide Association Studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that m

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