rs117905623 - SNRPEP8 - RNA5SP318

Magnitude 2.2 · 1 study on file

Reported associations

• A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus - Unknown journal (n.d.) · Unknown authors · PubMed 33649486

  ABSTRACT: Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endotheli

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