{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent genetic studies have begun to shed light on the potential role of the gene C16orf96 in disease susceptibility. In a familial sarcoma study, for instance, regulatory variants in C16orf96 were found to be significantly associated with cancer risk; a lower burden of these variants in controls compared to sarcoma cases supports the candidacy of C16orf96 as a novel risk gene. Notably, its regulatory elements appear to be shared with genes involved in TNF‐α–mediated apoptosis operating in a p53/TP53‐dependent manner, suggesting that C16orf96 may influence apoptotic pathways critical to tumor suppression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Although other investigations have focused on aspects of host resistance and proteomic profiling – including studies of Campylobacter resistance in chickens"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", comprehensive mapping of the human heart proteome"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", and the evaluation of rare copy number variations in inflammatory bowel disease"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "– these works did not directly address the function of C16orf96. However, the discovery of quantitative trait loci on chromosome 16 in the Campylobacter study hints at a broader genomic context in which genes like C16orf96 may contribute to complex traits.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings motivate further investigation into the mechanistic role of C16orf96. In particular, clarifying how its regulatory variants might affect apoptotic or immune signalling pathways could ultimately improve our understanding of both cancer predisposition and other complex disease traits.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rachel M Jones, Phillip E Melton, Mark Pinese, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-019-0808-9"}], "href": "https://doi.org/10.1186/s12881-019-0808-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31053105"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31053105"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "A Psifidi, M Fife, J Howell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The genomic architecture of resistance to Campylobacter jejuni intestinal colonisation in chickens."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12864-016-2612-7"}], "href": "https://doi.org/10.1186/s12864-016-2612-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27090510"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27090510"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Sophia Doll, Martina Dreßen, Philipp E Geyer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Region and cell-type resolved quantitative proteomic map of the human heart."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-017-01747-2"}], "href": "https://doi.org/10.1038/s41467-017-01747-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29133944"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29133944"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Svetlana Frenkel, Charles N Bernstein, Michael Sargent, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0217846"}], "href": "https://doi.org/10.1371/journal.pone.0217846"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31185018"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31185018"}]}]}]}