Expressive

rs1011789 - ABCA10

Magnitude 2.2 · 2 studies on file

Reported associations

  • Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging. - JAMA ophthalmology (2022) · He W, Han X, Ong JS, Hewitt AW, Mackey DA, Gharahkhani P, MacGregor S · PubMed 35446358

    Keratoconus can be a debilitating corneal ectasia in which the cornea thins, bulges, and steepens into a conical shape. Early features of keratoconus include myopia and irregular astigmatism, which affect vision and can be treated with contact lenses, collagen cross-linking, or, in advanced cases, corneal transplant. Recent estimates of the prevalence of keratoconus based on results of Scheimpflug imaging in young adults are as high as 1.2%. However, obtaining very large keratoconus data sets for a genome-wide association study (GWAS) is problematic because few population studies include Scheimpflug imaging and because severe keratoconus is relatively rare. To identify novel keratoconus loci using corneal resistance factor (CRF) and central corneal thickness (CCT). This multitrait GWAS use

  • Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants - Unknown journal (n.d.) · Unknown authors · PubMed 33311554

    ABSTRACT: Corneal resistance factor (CRF) is altered during corneal diseases progression. Genome-wide-association studies (GWAS) indicated potential CRF and disease genetics overlap. Here, we characterise 135 CRF loci following GWAS in 76029 UK Biobank participants. Enrichment of extra-cellular matrix gene-sets, genetic correlation with corneal thickness (70% (SE = 5%)), reported keratoconus risk variants at 13 loci, all support relevance to corneal stroma biology. Fine-mapping identifies a subset of 55 highly likely causal variants, 91% of which are non-coding. Genomic features enrichments, using all associated variants, also indicate prominent regulatory causal role. We newly established open chromatin landscapes in two widely-used human cornea immortalised cell lines using ATAC-seq.

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