Elevated GLI3 expression in germinal center diffuse large B cell lymphoma

Han, Weiguo; Ibarra, Gabriela; Gupta, Mamta; Yin, Yanbin; Elsawa, Sherine F.

doi:10.1080/10428194.2018.1439169

Cited by 5 publications

(1 citation statement)

References 15 publications

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“…The lead SNP, rs2058019, is present within an intronic region and has not previously been associated with disease. Thus, the functional signi cance is not clear, although aberrancy in GLI3 is associated with human disease, including polydactly syndromes 48 and malignancy [49][50][51][52] . Functionally, both aberrant GLI3 repressor and activator roles have been associated with underlying patho-mechanisms, resulting in imbalance within epithelial to mesenchymal transition 50,52,53 , AKT/ERK1 activation 54 , p53 function 55 and autophagy 56 .…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort

Rotter¹,

Owen

et al. 2023

Preprint

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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 2 loci at genome-wide significance level (p<5×10-8) and 7 at suggestive significance (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 Caucasian 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 report the largest ROP GWAS to date, identifying a novel locus at GLI3 with relevance to retinal biology supporting genetic susceptibilities for ROP risk with possible variability by race and ethnicity.

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Section: Discussionmentioning

confidence: 99%

Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort

Rotter¹,

Owen

et al. 2023

Preprint

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MLL1 inhibition reduces IgM levels in Waldenström macroglobulinemia

et al. 2022

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Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

Li,

Owen,

Taylor

et al. 2024

Commun Biol

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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.

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Elevated GLI3 expression in germinal center diffuse large B cell lymphoma

Cited by 5 publications

References 15 publications

Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort

Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort

MLL1 inhibition reduces IgM levels in Waldenström macroglobulinemia

Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

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