Expressive

rs115045402 - S100A11 - SPTLC1P4

Magnitude 2.2 · 4 studies on file

Reported associations

  • Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis. - The Journal of investigative dermatology (2022) · Chen Y, Chen W · PubMed 35577104

    Atopic dermatitis (AD) is a common heterogeneous, chronic, itching, and inflammatory skin disease. Genetic studies have identified multiple AD susceptibility genes. However, the genetic architecture of AD has not been elucidated. In this study, we conducted a large-scale meta-analysis of AD (35,647 cases and 1,013,885 controls) to characterize the genetic basis of AD. The heritability of AD in different datasets varied from 0.6 to 7.1%. We identified 31 previously unreported genes by integrating multiomics data. Among the 31 genes, MCL1 was identified as a potential treatment target for AD by mediating gene‒drug interactions. Tissue enrichment analyses and phenome-wide association study provided strong support for the role of the hemic and immune systems in AD. Across 1,207 complex trait

  • Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci. - American journal of human genetics (2020) · Manousaki D, Mitchell R, Dudding T, Haworth S, Harroud A, Forgetta V, Shah RL, Luan J, Langenberg C, Timpson NJ, Richards JB · PubMed 32059762

    We aimed to increase our understanding of the genetic determinants of vitamin D levels by undertaking a large-scale genome-wide association study (GWAS) of serum 25 hydroxyvitamin D (25OHD). To do so, we used imputed genotypes from 401,460 white British UK Biobank participants with available 25OHD levels, retaining single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) > 0.1% and imputation quality score > 0.3. We performed a linear mixed model GWAS on standardized log-transformed 25OHD, adjusting for age, sex, season of measurement, and vitamin D supplementation. These results were combined with those from a previous GWAS including 42,274 Europeans. In silico functional follow-up of the GWAS results was undertaken to identify enrichment in gene sets, pathways, and expre

  • 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

  • Age-of-onset information helps identify 76 genetic variants associated with allergic disease - Unknown journal (n.d.) · Unknown authors · PubMed 32603359

    ABSTRACT: Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P<3x10-8) with age-of-onset. Forty-five variants had comp

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