{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTOMM40 encodes an essential component of the translocase of the outer mitochondrial membrane (TOM) complex that mediates the import of nuclear‐encoded proteins into mitochondria, thereby ensuring proper mitochondrial bioenergetics and homeostasis. Functional investigations have demonstrated that TOMM40 not only forms the central channel through which precursor proteins are translocated but also interacts with other proteins—such as BAP31 at endoplasmic reticulum–mitochondria contact sites—to regulate the assembly of respiratory complexes, support mitochondrial quality control, and modulate responses to cellular stress."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenetic studies have repeatedly implicated variants within the TOMM40 locus—most notably a variable-length poly–deoxythymidine (poly-T) repeat (rs10524523)—in modulating risk for and age at onset of neurodegenerative disorders such as late-onset Alzheimer’s disease. These polymorphisms, which are frequently in strong linkage disequilibrium with APOE alleles, have been associated with alterations in brain white matter integrity, differences in cognitive performance, and variations in metabolic traits. A wealth of candidate gene and genome-wide association investigations support its contribution as a genetic marker to disease progression and other endophenotypes in aging populations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "34"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its roles in protein import, recent research has highlighted the complex regulation of TOMM40 expression and its broader involvement as a potential biomarker in neurodegenerative disease. Altered transcriptional profiles of TOMM40 in affected brain regions and peripheral tissues, together with evidence of its interplay with cis-regulatory elements that also modulate APOE and APOC1 expression, underscore a multifaceted network influencing mitochondrial function and neuronal integrity. Such regulatory dynamics, along with observations linking changes in TOMM40 levels to disruptions in mitochondrial function and cellular energy metabolism, hint at its contributory role in the pathogenesis and progression of Alzheimer’s disease and related disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "35", "end_ref": "45"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Weiguo Chen, Umasundari Sivaprasad, Yasuhiro Tabata, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "APOE ε4-TOMM40 '523 haplotypes and the risk of Alzheimer's disease in older Caucasian and African Americans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0180356"}], "href": "https://doi.org/10.1371/journal.pone.0180356"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28672022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28672022"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kahli Zeitlow, Lefko Charlambous, Isaac Ng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The biological foundation of the genetic association of TOMM40 with late-onset Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Mol Basis Dis (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2017.07.031"}], "href": "https://doi.org/10.1016/j.bbadis.2017.07.031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28768149"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28768149"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alexander M Kulminski, Yury Loika, Irina Culminskaya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Independent associations of TOMM40 and APOE variants with body mass index."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging Cell (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/acel.12869"}], "href": "https://doi.org/10.1111/acel.12869"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30462377"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30462377"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Takushi Namba "}, {"type": "b", "children": [{"type": "t", "text": "BAP31 regulates mitochondrial function via interaction with Tom40 within ER-mitochondria contact sites."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Adv (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/sciadv.aaw1386"}], "href": "https://doi.org/10.1126/sciadv.aaw1386"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31206022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31206022"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "A D Roses, M W Lutz, H Amrine-Madsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenomics J (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/tpj.2009.69"}], "href": "https://doi.org/10.1038/tpj.2009.69"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20029386"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20029386"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Li Shen, Sungeun Kim, Shannon L Risacher, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroimage (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuroimage.2010.01.042"}], "href": "https://doi.org/10.1016/j.neuroimage.2010.01.042"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20100581"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20100581"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sterling C Johnson, Asenath La Rue, Bruce P Hermann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ε3/ε3 genotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2010.11.012"}], "href": "https://doi.org/10.1016/j.jalz.2010.11.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21784354"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21784354"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Carlos Cruchaga, Petra Nowotny, John S K Kauwe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Neurol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/archneurol.2011.155"}], "href": "https://doi.org/10.1001/archneurol.2011.155"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21825236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21825236"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Rita P S Middelberg, Manuel A R Ferreira, Anjali K Henders, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-12-123"}], "href": "https://doi.org/10.1186/1471-2350-12-123"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21943158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21943158"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Davide Bruno, Nunzio Pomara, Jay Nierenberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Gerontol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.exger.2011.09.008"}], "href": "https://doi.org/10.1016/j.exger.2011.09.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21983493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21983493"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Aleksandra Maruszak, Beata Pepłońska, Krzysztof Safranow, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Alzheimers Dis (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/JAD-2011-110743"}], "href": "https://doi.org/10.3233/JAD-2011-110743"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22008263"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22008263"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Colton Linnertz, Ann M Saunders, Michael W Lutz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the poly-T variant in the TOMM40 gene in diverse populations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0030994"}], "href": "https://doi.org/10.1371/journal.pone.0030994"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22359560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22359560"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Kathleen M Hayden, Jill M McEvoy, Colton Linnertz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2011.10.005"}], "href": "https://doi.org/10.1016/j.jalz.2011.10.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22863908"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22863908"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Richard J Caselli, Amylou C Dueck, Matthew J Huentelman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Longitudinal modeling of cognitive aging and the TOMM40 effect."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2011.11.006"}], "href": "https://doi.org/10.1016/j.jalz.2011.11.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23102119"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23102119"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Ge Li, Lynn M Bekris, Lesley Leong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2012.06.009"}], "href": "https://doi.org/10.1016/j.jalz.2012.06.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23183136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23183136"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Mei Sian Chong, Liang Kee Goh, Wee Shiong Lim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Alzheimers Dis (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/JAD-121621"}], "href": "https://doi.org/10.3233/JAD-121621"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23234877"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23234877"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Xiao-Ying Ma, Jin-Tai Yu, Wei Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of TOMM40 polymorphisms with late-onset Alzheimer's disease in a Northern Han Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromolecular Med (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12017-012-8217-7"}], "href": "https://doi.org/10.1007/s12017-012-8217-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23288655"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23288655"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Silvia Bagnoli, Irene Piaceri, Andrea Tedde, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TOMM40 polymorphisms in Italian Alzheimer's disease and frontotemporal dementia patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10072-013-1425-6"}], "href": "https://doi.org/10.1007/s10072-013-1425-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23546992"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23546992"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Donald M Lyall, Natalie A Royle, Sarah E Harris, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alzheimer's disease susceptibility genes APOE and TOMM40, and hippocampal volumes in the Lothian birth cohort 1936."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0080513"}], "href": "https://doi.org/10.1371/journal.pone.0080513"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24260406"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24260406"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Colton Linnertz, Lauren Anderson, William Gottschalk, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2013.08.280"}], "href": "https://doi.org/10.1016/j.jalz.2013.08.280"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24439168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24439168"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Donald M Lyall, Sarah E Harris, Mark E Bastin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alzheimer's disease susceptibility genes APOE and TOMM40, and brain white matter integrity in the Lothian Birth Cohort 1936."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2014.01.006"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2014.01.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24508314"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24508314"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Fang Lu, Huaijin Guan, Bo Gong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants in PVRL2-TOMM40-APOE region are associated with human longevity in a Han Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0099580"}], "href": "https://doi.org/10.1371/journal.pone.0099580"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24924924"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24924924"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Takuma Yoshizumi, Takeshi Ichinohe, Osamu Sasaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Influenza A virus protein PB1-F2 translocates into mitochondria via Tom40 channels and impairs innate immunity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms5713"}], "href": "https://doi.org/10.1038/ncomms5713"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25140902"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25140902"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "D M Lyall, S E Harris, M E Bastin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Psychiatry (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/tp.2014.89"}], "href": "https://doi.org/10.1038/tp.2014.89"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25247594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25247594"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "G Davies, N Armstrong, J C Bis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2014.188"}], "href": "https://doi.org/10.1038/mp.2014.188"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25644384"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25644384"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Jan Laczó, Ross Andel, Martin Vyhnalek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effect of TOMM40 on spatial navigation in amnestic mild cognitive impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2015.03.004"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2015.03.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25862420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25862420"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Rong Lin, Yunxia Zhang, Dongjing Yan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2015.150"}], "href": "https://doi.org/10.1038/jhg.2015.150"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26657933"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26657933"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "A Payton, P Sindrewicz, V Pessoa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A TOMM40 poly-T variant modulates gene expression and is associated with vocabulary ability and decline in nonpathologic aging."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2015.11.017"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2015.11.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26742953"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26742953"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Hao Huang, Jun Zhao, Biyun Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The TOMM40 gene rs2075650 polymorphism contributes to Alzheimer's disease in Caucasian, and Asian populations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Lett (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neulet.2016.05.050"}], "href": "https://doi.org/10.1016/j.neulet.2016.05.050"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27328316"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27328316"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Shobana Subramanian, William K Gottschalk, So Young Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effects of PPARγ on the regulation of the TOMM40-APOE-C1 genes cluster."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Mol Basis Dis (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2017.01.004"}], "href": "https://doi.org/10.1016/j.bbadis.2017.01.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28065845"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28065845"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Lei Yu, Michael W Lutz, Robert S Wilson, et al. "}, {"type": "b", "children": [{"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TOMM40"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "'523 variant and cognitive decline in older persons with "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "APOE"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " ε3/3 genotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000003614"}], "href": "https://doi.org/10.1212/WNL.0000000000003614"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28108637"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28108637"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "Lynn M Bekris, Steven P Millard, Nichole M Galloway, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Alzheimers Dis (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/jad-2008-13303"}], "href": "https://doi.org/10.3233/jad-2008-13303"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18430993"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18430993"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "Steven G Potkin, Guia Guffanti, Anita Lakatos, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0006501"}], "href": "https://doi.org/10.1371/journal.pone.0006501"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19668339"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19668339"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "Su Hee Chu, Kathryn Roeder, Robert E Ferrell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2011.06.016"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2011.06.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21820212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21820212"}]}, {"type": "r", "ref": 38, "children": [{"type": "t", "text": "Tih-Shih Lee, Liang Goh, Mei Sian Chong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Downregulation of TOMM40 expression in the blood of Alzheimer disease subjects compared with matched controls."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Psychiatr Res (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jpsychires.2012.03.006"}], "href": "https://doi.org/10.1016/j.jpsychires.2012.03.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22472643"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22472643"}]}, {"type": "r", "ref": 39, "children": [{"type": "t", "text": "Alison C Burggren, Zanjbeel Mahmood, Theresa M Harrison, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hippocampal thinning linked to longer TOMM40 poly-T variant lengths in the absence of the APOE ε4 variant."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2016.12.009"}], "href": "https://doi.org/10.1016/j.jalz.2016.12.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28183529"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28183529"}]}, {"type": "r", "ref": 40, "children": [{"type": "t", "text": "Aniket Mishra, Raffaele Ferrari, Peter Heutink, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awx066"}], "href": "https://doi.org/10.1093/brain/awx066"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28387812"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28387812"}]}, {"type": "r", "ref": 41, "children": [{"type": "t", "text": "Lei Yu, Michael W Lutz, Jose M Farfel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neuropathologic features of TOMM40 '523 variant on late-life cognitive decline."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2017.05.002"}], "href": "https://doi.org/10.1016/j.jalz.2017.05.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28624335"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28624335"}]}, {"type": "r", "ref": 42, "children": [{"type": "t", "text": "Yvonne Shao, McKenzie Shaw, Kaitlin Todd, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DNA methylation of TOMM40-APOE-APOC2 in Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s10038-017-0393-8"}], "href": "https://doi.org/10.1038/s10038-017-0393-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29371683"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29371683"}]}, {"type": "r", "ref": 43, "children": [{"type": "t", "text": "Shizhen Tang, Aron S Buchman, Philip L De Jager, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel Variance-Component TWAS method for studying complex human diseases with applications to Alzheimer's dementia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1009482"}], "href": "https://doi.org/10.1371/journal.pgen.1009482"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33798195"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33798195"}]}, {"type": "r", "ref": 44, "children": [{"type": "t", "text": "Eun-Gyung Lee, Sunny Chen, Lesley Leong, et al. "}, {"type": "b", "children": [{"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TOMM40"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " RNA Transcription in Alzheimer's Disease Brain and Its Implication in Mitochondrial Dysfunction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes (Basel) (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/genes12060871"}], "href": "https://doi.org/10.3390/genes12060871"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34204109"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34204109"}]}, {"type": "r", "ref": 45, "children": [{"type": "t", "text": "Alexander M Kulminski, Ian Philipp, Leonardo Shu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2021.09.009"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2021.09.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34625307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34625307"}]}]}]}