Association Mapping of the High-Grade Myopia<i>MYP3</i>Locus Reveals Novel Candidates<i>UHRF1BP1L</i>,<i>PTPRR</i>, and<i>PPFIA2</i>

Abstract

In an independent high-grade myopia cohort, an intronic SNP in UHRF1BP1L, rs4764971, was validated for quantitative association, and SNPs within PTPRR (quantitative) and PPFIA2 (qualitative and quantitative) approached significance. Three genes identified by our association study and supported by ocular expression and/or replication, UHRF1BP1L, PTPRR, and PPFIA2, are novel candidates for myopic development within the MYP3 locus that should be further studied.