rs1097296 - ITPKB - RPS27P5

Magnitude 2.8 · 1 study on file

Reported associations

  • A genome-wide association study of chronic spontaneous urticaria risk and heterogeneity. - The Journal of allergy and clinical immunology (2023) · Chang D, Hammer C, Holweg CTJ, Selvaraj S, Rathore N, McCarthy MI, Yaspan BL, Choy DF · PubMed 36343773

    Chronic spontaneous urticaria (CSU) is a dermatologic condition characterized by spontaneous, pruritic hives and/or angioedema that persists for 6 weeks or longer with no identifiable trigger. Antihistamines and second-line therapies such as omalizumab are effective for some CSU patients, but others remain symptomatic, with significant impact on quality of life. This variable response to treatment and autoantibody levels across patients highlight clinically heterogeneous subgroups. We aimed to highlight pathways involved in CSU by investigating the genetics of CSU risk and subgroups. We performed a genome-wide association study (GWAS) of 679 CSU patients and 4446 controls and a GWAS of chronic urticaria (CU)-index, which measures IgG autoantibodies levels, by comparing 447 CU index-low to


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • chronic spontaneous urticaria (CSU) risk Moderate

    rs1097296 C allele associated with 1.44-fold increased CSU risk in well-powered GWAS

    discuss genetic risk with healthcare provider and determine screening approach