Expressive

rs10045403 - ERAP1 - ERAP2

Magnitude 2.8 · 4 studies on file

Reported associations

  • Epistasis of ERAP1 With 4 Major Histocompatibility Complex Class I Alleles in Frontal Fibrosing Alopecia: A Genome-Wide Association Study Meta-Analysis. - JAMA dermatology (2025) · Rayinda T, Dand N, McSweeney SM, Christou E, Ung CY, Stefanato CM, Fenton DA, Harries M, Palamaras I, Tidman A, Holmes S, Koutalopoulou A, Ardern-Jones M, Kaur M, Papanikou S, Chasapi V, Vañó-Galvan S, Saceda-Corralo D, Melián-Olivera A, Azcarraga-Llobet C, Lobato-Berezo A, Bustamante M, Sunyer J, Starace MVR, Piraccini BM, Wiss IP, Senna MM, Singh R, Hillmann K, Kanti-Schmidt V, Blume-Peytavi U, McGrath JA, Simpson MA, Tziotzios C · PubMed 39937552

    Frontal fibrosing alopecia (FFA) is an inflammatory and scarring form of hair loss of increasing prevalence that most commonly affects women. An improved understanding of the genetic basis of FFA will support the identification of pathogenic mechanisms and therapeutic targets. To identify novel genomic loci at which common genetic variation affects FFA susceptibility and assess nonadditive effects on genetic risk between susceptibility loci. Four genome-wide association studies were combined using an SE-weighted meta-analysis. Within the major histocompatibility complex (MHC) locus, stepwise conditional analysis was undertaken to determine independently associated classical MHC class I alleles. Statistical tests for epistatic interaction were performed between risk alleles at the MHC and e

  • Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 - Unknown journal (n.d.) · Unknown authors · PubMed 30850646

    ABSTRACT: Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme.

  • Plasma proteome variation and its genetic determinants in children and adolescents - Unknown journal (n.d.) · Unknown authors · PubMed 39972214

    ABSTRACT: Our current understanding of the determinants of plasma proteome variation during pediatric development remains incomplete. Here, we show that genetic variants, age, sex and body mass index significantly influence this variation. Using a streamlined and highly quantitative mass spectrometry-based proteomics workflow, we analyzed plasma from 2,147 children and adolescents, identifying 1,216 proteins after quality control. Notably, the levels of 70% of these were associated with at least one of the aforementioned factors, with protein levels also being predictive. Quantitative trait loci (QTLs) regulated at least one-third of the proteins; between a few percent and up to 30-fold. Together with excellent replication in an additional 1,000 children and 558 adults, this reveals substa

  • Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci - Unknown journal (n.d.) · Unknown authors · PubMed 23749187

    ABSTRACT: Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with ankylosing spondylitis in populations of European ancestry, and 2 associated loci have been identified in Asians. In this study, we used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls. We identified 13 new risk loci and 12 additional ankylosing spondylitis-associated haplotypes at 11 loci. Two ankylosing spondylitis-associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocom

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