{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FTCDNL1, previously referred to as FONG, encodes a small 147–amino acid protein that harbors an N‐terminal formiminotransferase domain (FTCD_N) and is expressed in a variety of tissues including bone. Genome‐wide association studies in Japanese populations first implicated FTCDNL1 in osteoporosis risk by identifying the rs7605378 variant, thereby suggesting that alterations in this gene contribute to decreased bone mass and quality."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Subsequent research in Taiwanese cohorts demonstrated that other polymorphisms in FTCDNL1, such as rs10203122, are significantly associated with osteoporosis susceptibility, particularly in females, further strengthening the gene’s putative role in bone metabolism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, combined analyses indicate that individuals homozygous for these risk alleles exhibit an increased likelihood of vertebral fractures, thereby linking FTCDNL1 genetic variation not only to reduced bone mineral density but also to compromised bone strength. These findings collectively suggest that FTCDNL1 may be a novel factor in the etiology and pathogenesis of osteoporosis and could serve as a potential target for preventive strategies aimed at reducing osteoporotic fracture risk.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ikuyo Kou, Atsushi Takahashi, Tomohiko Urano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0019641"}], "href": "https://doi.org/10.1371/journal.pone.0019641"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21573128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21573128"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Heying Zhou, Seijiro Mori, Ikuyo Kou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2012.145"}], "href": "https://doi.org/10.1038/jhg.2012.145"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23303384"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23303384"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Seijiro Mori, Heying Zhou "}, {"type": "b", "children": [{"type": "t", "text": "Implementation of personalized medicine for fracture risk assessment in osteoporosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Geriatr Gerontol Int (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ggi.12721"}], "href": "https://doi.org/10.1111/ggi.12721"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27018284"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27018284"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Seijiro Mori "}, {"type": "b", "children": [{"type": "t", "text": "[Genome-wide association study for Osteoporosis]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Calcium (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "CliCa1604537543"}], "href": "https://doi.org/CliCa1604537543"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27013623"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27013623"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hsing-Fang Lu, Kuo-Sheng Hung, Yu-Wen Hsu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association Study between the FTCDNL1 (FONG) and Susceptibility to Osteoporosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0140549"}], "href": "https://doi.org/10.1371/journal.pone.0140549"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26492493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26492493"}]}]}]}