{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent genetic studies have implicated the UHRF1BP1 gene in autoimmune susceptibility, particularly in systemic lupus erythematosus (SLE). Genome‐wide analyses have identified UHRF1BP1 as one of several novel risk loci with missense variants that confer modest increases in SLE risk, findings confirmed in both European and Asian populations. In addition, PBMC analyses revealed a significant decrease in UHRF1BP1 mRNA levels in patients relative to healthy controls, further supporting its involvement in immune regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role in autoimmunity, UHRF1BP1 transcript levels have emerged as prognostic markers in the setting of human cancers. In HPV‐negative head and neck squamous cell carcinoma harboring TP53 mutations, for instance, altered levels of UHRF1BP1 mRNA were linked to clinical outcomes, hinting at a broader role in cellular stress and/or repair pathways. Moreover, emerging evidence suggests that certain susceptibility loci may overlap between autoimmune disorders such as SLE and rheumatoid arthritis, placing UHRF1BP1 within a network of shared genetic risk factors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDespite robust genetic associations and correlations with disease prognosis, the precise molecular function of UHRF1BP1 remains to be elucidated. Its conservation across populations and disease contexts suggests an involvement in key regulatory or signaling processes within immune cells and possibly in cellular stress responses. Comparatively, investigations into other genes with emerging roles in cell proliferation and survival—such as FGF2‐responsive factors and long non‐coding RNAs in cancer—underscore the need for further functional studies to clarify UHRF1BP1’s biological roles."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Vesela Gateva, Johanna K Sandling, Geoff Hom, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.468"}], "href": "https://doi.org/10.1038/ng.468"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19838195"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19838195"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Y Zhang, W Yang, C C Mok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Immun (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gene.2010.66"}], "href": "https://doi.org/10.1038/gene.2010.66"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21326321"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21326321"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Leilei Wen, Lu Liu, Xue Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ahg.12362"}], "href": "https://doi.org/10.1111/ahg.12362"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31691269"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31691269"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Gisela Orozco, Steve Eyre, Anne Hinks, et al. 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