{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n AP4B1‐AS1 is a long non‐coding RNA that has emerged as a potential gene regulatory mediator in immuno‐related conditions. Notably, in a study on type 1 diabetes, an expression quantitative trait locus (eQTL) tagged by the single nucleotide polymorphism rs6679677 was associated with modulated AP4B1‐AS1 transcript levels in lung tissue, with allele‐specific enhancer activity in lung epithelial cells contributing substantially to T1D risk (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In contrast, a separate investigation of the genomic region at 1p13.2—which encompasses AP4B1‐AS1 along with several protein‐coding and non‐coding genes—in patients with pemphigus foliaceus found no significant association with disease susceptibility, suggesting that variation in AP4B1‐AS1 may not play a major role in the pathogenesis of this autoimmune skin disorder."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Although other studies have explored the influence of prenatal and perinatal factors on childhood cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "and the involvement of diverse non‐coding RNAs in retinal degeneration associated with oxidative stress"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", AP4B1‐AS1 was not implicated in these contexts. Thus, current evidence supports a specific role for AP4B1‐AS1 in modulating lung tissue gene regulation that may impact T1D development, while its contribution to other diseases remains less defined.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daniel Ho, Denis M Nyaga, William Schierding, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identifying the lungs as a susceptible site for allele-specific regulatory changes associated with type 1 diabetes risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Commun Biol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s42003-021-02594-0"}], "href": "https://doi.org/10.1038/s42003-021-02594-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34521982"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34521982"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sara Cristina Lobo-Alves, Liana Alves de Oliveira, Maria Luiza Petzl-Erler "}, {"type": "b", "children": [{"type": "t", "text": "Region 1p13.2 including the RSBN1, PTPN22, AP4B1 and long non-coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (fogo selvagem)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Immunogenet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/iji.12423"}], "href": "https://doi.org/10.1111/iji.12423"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30884100"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30884100"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anna Deleskog, Marcel den Hoed, Giorgio Tettamanti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Maternal diabetes and incidence of childhood cancer - a nationwide cohort study and exploratory genetic analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Epidemiol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2147/CLEP.S147188"}], "href": "https://doi.org/10.2147/CLEP.S147188"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29238226"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29238226"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Luigi Donato, Concetta Scimone, Carmela Rinaldi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-018-35086-z"}], "href": "https://doi.org/10.1038/s41598-018-35086-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30413775"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30413775"}]}]}]}