Expressive

rs11643205 - NUP93

Magnitude 2.2 · 4 studies on file

Reported associations

  • Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy. - The Journal of allergy and clinical immunology (2025) · Stickley SA, Fang ZY, Ambalavanan A, Zhang Y, Zacharias AM, Petersen C, Dai D, Azad MB, Brook JR, Mandhane PJ, Simons E, Moraes TJ, Surette MG, Turvey SE, Subbarao P, Duan Q · PubMed 40187613

    Gut microbiota has been associated with health and susceptibility to childhood diseases, including asthma and allergies. However, the genomic factors contributing to interindividual variations in gut microbiota remain poorly understood. We sought to integrate host genomics with early-life exposures to investigate main and interaction effects on gut microbiota during the first year of life. In addition, we identified gut microbes associated with childhood respiratory (asthma, wheeze) and atopic (atopic dermatitis, food/inhalant sensitization) outcomes. We leveraged microbiome data from infant stool at ages 3 months (N = 779) and 1 year (N = 770) from the CHILD Cohort Study. We identified microbial taxa and co-occurring network clusters associated with asthma and atopy by age 5 years. Genome

  • Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank. - Nature genetics (2024) · Oliveri A, Rebernick RJ, Kuppa A, Pant A, Chen Y, Du X, Cushing KC, Bell HN, Raut C, Prabhu P, Chen VL, Halligan BD, Speliotes EK · PubMed 38200128

    Insulin resistance (IR) is a well-established risk factor for metabolic disease. The ratio of triglycerides to high-density lipoprotein cholesterol (TG:HDL-C) is a surrogate marker of IR. We conducted a genome-wide association study of the TG:HDL-C ratio in 402,398 Europeans within the UK Biobank. We identified 369 independent SNPs, of which 114 had a false discovery rate-adjusted P value < 0.05 in other genome-wide studies of IR making them high-confidence IR-associated loci. Seventy-two of these 114 loci have not been previously associated with IR. These 114 loci cluster into five groups upon phenome-wide analysis and are enriched for candidate genes important in insulin signaling, adipocyte physiology and protein metabolism. We created a polygenic-risk score from the high-confidence

  • Genetic susceptibility to cognitive decline following craniospinal irradiation for pediatric central nervous system tumors. - Neuro-oncology (2023) · Brown AL, Sok P, Raghubar KP, Lupo PJ, Richard MA, Morrison AC, Yang JJ, Stewart CF, Okcu MF, Chintagumpala MM, Gajjar A, Kahalley LS, Conklin H, Scheurer ME · PubMed 37038335

    Survivors of pediatric central nervous system (CNS) tumors treated with craniospinal irradiation (CSI) exhibit long-term cognitive difficulties. Goals of this study were to evaluate longitudinal effects of candidate and novel genetic variants on cognitive decline following CSI. Intelligence quotient (IQ), working memory (WM), and processing speed (PS) were longitudinally collected from patients treated with CSI (n = 241). Genotype-by-time interactions were evaluated using mixed-effects linear regression to identify common variants (minor allele frequency > 1%) associated with cognitive performance change. Novel variants associated with cognitive decline (P < 5 × 10-5) in individuals of European ancestry (n = 163) were considered replicated if they demonstrated consiste

  • Pleiotropic genetic architecture and novel loci for C-reactive protein levels - Unknown journal (n.d.) · Unknown authors · PubMed 36376304

    ABSTRACT: C-reactive protein is involved in a plethora of pathophysiological conditions. Many genetic loci associated with C-reactive protein are annotated to lipid and glucose metabolism genes supporting common biological pathways between inflammation and metabolic traits. To identify novel pleiotropic loci, we perform multi-trait analysis of genome-wide association studies on C-reactive protein levels along with cardiometabolic traits, followed by a series of in silico analyses including colocalization, phenome-wide association studies and Mendelian randomization. We find 41 novel loci and 19 gene sets associated with C-reactive protein with various pleiotropic effects. Additionally, 41 variants colocalize between C-reactive protein and cardiometabolic risk factors and 12 of them display

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