rs11114001 - ISCU - TMEM119

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology. - Human molecular genetics (2020) · Han X, Qassim A, An J, Marshall H, Zhou T, Ong JS, Hassall MM, Hysi PG, Foster PJ, Khaw PT, Mackey DA, Gharahkhani P, Khawaja AP, Hewitt AW, Craig JE, MacGregor S · PubMed 31809533

  Optic nerve head morphology is affected by several retinal diseases. We measured the vertical optic disc diameter (DD) of the UK Biobank (UKBB) cohort (N = 67 040) and performed the largest genome-wide association study (GWAS) of DD to date. We identified 81 loci (66 novel) for vertical DD. We then replicated the novel loci in International Glaucoma Genetic Consortium (IGGC, N = 22 504) and European Prospective Investigation into Cancer-Norfolk (N = 6005); in general the concordance in effect sizes was very high (correlation in effect size estimates 0.90): 44 of the 66 novel loci were significant at P < 0.05, with 19 remaining significant after Bonferroni correction. We identified another 26 novel loci in the meta-analysis of UKBB and IGGC data. Gene-based analyses iden

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