Communications biology · 2024
Genome-wide association identifies novel ROP risk loci in a multiethnic cohort.
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Li Xiaohui, Owen Leah A, Taylor Kent D, Ostmo Susan, Chen Yii-Der Ida, Coyner Aaron S, Sonmez Kemal, Hartnett M Elizabeth, Guo Xiuqing, Ipp Eli, Roll Kathryn, Genter Pauline, Chan R V Paul, DeAngelis Margaret M, Chiang Michael F, Campbell J Peter, Rotter Jerome I, i-ROP Consortium
Аннотация
We conducted a genome-wide association study (GWAS) in a multiethnic cohort of 920 at-risk infants for retinopathy of prematurity (ROP), a major cause of childhood blindness, identifying 1 locus at genome-wide significance level (p < 5×10-8) and 9 with significance of p < 5×10-6 for ROP ≥ stage 3. The most significant locus, rs2058019, reached genome-wide significance within the full multiethnic cohort (p = 4.96×10-9); Hispanic and European Ancestry infants driving the association. The lead single nucleotide polymorphism (SNP) falls in an intronic region within the Glioma-associated oncogene family zinc finger 3 (GLI3) gene. Relevance for GLI3 and other top-associated genes to human ocular disease was substantiated through in-silico extension analyses, genetic risk score analysis and expression profiling in human donor eye tissues. Thus, we identify a novel locus at GLI3 with relevance to retinal biology, supporting genetic susceptibilities for ROP risk with possible variability by race and ethnicity.