Expressive

rs10158467 - GOT2P2 - TNFSF4

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. - American journal of human genetics (2020) · Ferreira MAR, Mathur R, Vonk JM, Szwajda A, Brumpton B, Granell R, Brew BK, Ullemar V, Lu Y, Jiang Y, Magnusson PKE, Karlsson R, Hinds DA, Paternoster L, Koppelman GH, Almqvist C · PubMed 30929738

    The extent to which genetic risk factors are shared between childhood-onset (COA) and adult-onset (AOA) asthma has not been estimated. On the basis of data from the UK Biobank study (n = 447,628), we found that the variance in disease liability explained by common variants is higher for COA (onset at ages between 0 and 19 years; h = 25.6%) than for AOA (onset at ages between 20 and 60 years; h = 10.6%). The genetic correlation (r ) between COA and AOA was 0.67. Variation in age of onset among COA-affected individuals had a low heritability (h = 5%), which we confirmed in independent studies and also among AOA-affected individuals. To identify subtype-specific genetic associations, we performed a genome-wide association study (GWAS) in the UK Biobank for COA (13,962 affected individuals) a

  • Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy - Unknown journal (n.d.) · Unknown authors · PubMed 37188663

    ABSTRACT: Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB103:01 and DPB104:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB106:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ24, TRAJ28 and TRBV4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be

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