rs10226930 - SHH - Y_RNA

Magnitude 2.8 · 1 study on file

Reported associations

• Identification of a candidate gene for astigmatism. - Investigative ophthalmology & visual science (2013) · Lopes MC, Hysi PG, Verhoeven VJ, Macgregor S, Hewitt AW, Montgomery GW, Cumberland P, Vingerling JR, Young TL, van Duijn CM, Oostra B, Uitterlinden AG, Rahi JS, Mackey DA, Klaver CC, Andrew T, Hammond CJ · PubMed 23322567

  Astigmatism is a common refractive error that reduces vision, where the curvature and refractive power of the cornea in one meridian are less than those of the perpendicular axis. It is a complex trait likely to be influenced by both genetic and environmental factors. Twin studies of astigmatism have found approximately 60% of phenotypic variance is explained by genetic factors. This study aimed to identify susceptibility loci for astigmatism. We performed a meta-analysis of seven genome-wide association studies that included 22,100 individuals of European descent, where astigmatism was defined as the number of diopters of cylinder prescription, using fixed effect inverse variance-weighted methods. A susceptibility locus was identified with lead single nucleotide polymorphism rs3771395 on

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