rs113010607 - SEPTIN8

Magnitude 2.2 · 1 study 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


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Lifestyle context

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

Discuss with your doctor

  • SEPTIN8 rs113010607 genetic asthma predisposition Moderate

    Carriers have 9.5% increased per-allele asthma risk; shared decision-making on screening and prevention strategies

    Review screening recommendations and asthma prevention strategies

Screening

  • Spirometry and asthma symptom assessment Moderate

    SEPTIN8 C-allele carriers have 9.5% increased per-allele asthma risk; early detection enables proactive management

    Baseline spirometry testing including FEV1/FVC ratio measurement