TOMM40 c.644-575C>T

Variant ID: 19-45403412-C-T

NM_001128917.1(TOMM40):c.644-575C>T

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1160985
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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TOMM40 genetic variants associated with healthy aging and longevity: a systematic review.

Bmc Geriatrics
Chen, Sunny S; Sarasua, Sara M SM; Davis, Nicole J NJ; DeLuca, Jane M JM; Boccuto, Luigi L; Thielke, Stephen M SM; Yu, Chang-En CE
Publication Date: 2022-08-13

Variant appearance in text: rs1160985
PubMed Link: 35964003
Variant Present in the following documents:
  • Main text
  • 12877_2022_Article_3337.pdf
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Inter- and intra-chromosomal modulators of the APOE ɛ2 and ɛ4 effects on the Alzheimer's disease risk.

Geroscience
Nazarian, Alireza A; Philipp, Ian I; Culminskaya, Irina I; He, Liang L; Kulminski, Alexander M AM
Publication Date: 2022-07-09

Variant appearance in text: rs1160985
PubMed Link: 35809216
Variant Present in the following documents:
  • Main text
  • 11357_2022_Article_617.pdf
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Machine learning methods applied to genotyping data capture interactions between single nucleotide variants in late onset Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Arnal Segura, Magdalena M; Bini, Giorgio G; Fernandez Orth, Dietmar D; Samaras, Eleftherios E; Kassis, Maya M; Aisopos, Fotis F; Rambla De Argila, Jordi J; Paliouras, George G; Garrard, Peter P; Giambartolomei, Claudia C; Tartaglia, Gian Gaetano GG
Publication Date: 2022

Variant appearance in text: rs1160985
PubMed Link: 35415203
Variant Present in the following documents:
  • Main text
  • DAD2-14-e12300.pdf
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Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review.

Frontiers In Nutrition
Pérez-Beltrán, Yolanda E YE; Rivera-Iñiguez, Ingrid I; Gonzalez-Becerra, Karina K; Pérez-Naitoh, Naomi N; Tovar, Juscelino J; Sáyago-Ayerdi, Sonia G SG; Mendivil, Edgar J EJ
Publication Date: 2022

Variant appearance in text: rs1160985
PubMed Link: 35387194
Variant Present in the following documents:
  • Main text
  • fnut-09-830283.pdf
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Genome-wide analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer's disease.

Acta Neuropathologica Communications
Reddy, Joseph S JS; Allen, Mariet M; Ho, Charlotte C G CCG; Oatman, Stephanie R SR; İş, Özkan Ö; Quicksall, Zachary S ZS; Wang, Xue X; Jin, Jiangli J; Patel, Tulsi A TA; Carnwath, Troy P TP; Nguyen, Thuy T TT; Malphrus, Kimberly G KG; Lincoln, Sarah J SJ; Carrasquillo, Minerva M MM; Crook, Julia E JE; Kanekiyo, Takahisa T; Murray, Melissa E ME; Bu, Guojun G; Dickson, Dennis W DW; Ertekin-Taner, Nilüfer N
Publication Date: 2021-05-21

Variant appearance in text: rs1160985
PubMed Link: 34020725
Variant Present in the following documents:
  • 40478_2021_1199_MOESM1_ESM.pdf
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Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.

Frontiers In Aging Neuroscience
Vogrinc, David D; Goričar, Katja K; Dolžan, Vita V
Publication Date: 2021

Variant appearance in text: rs1160985
PubMed Link: 33815092
Variant Present in the following documents:
  • Main text
  • fnagi-13-646901.pdf
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Genetic factors increase the identification efficiency of predictive models for dyslipidaemia: a prospective cohort study.

Lipids In Health And Disease
Niu, Miaomiao M; Zhang, Liying L; Wang, Yikang Y; Tu, Runqi R; Liu, Xiaotian X; Hou, Jian J; Huo, Wenqian W; Mao, Zhenxing Z; Wang, Zhenfei Z; Wang, Chongjian C
Publication Date: 2021-02-12

Variant appearance in text: rs1160985
PubMed Link: 33579296
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1439.pdf
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Multivariate genome wide association and network analysis of subcortical imaging phenotypes in Alzheimer's disease.

Bmc Genomics
Meng, Xianglian X; Li, Jin J; Zhang, Qiushi Q; Chen, Feng F; Bian, Chenyuan C; Yao, Xiaohui X; Yan, Jingwen J; Xu, Zhe Z; Risacher, Shannon L SL; Saykin, Andrew J AJ; Liang, Hong H; Shen, Li L; ,
Publication Date: 2020-12-29

Variant appearance in text: rs1160985
PubMed Link: 33372590
Variant Present in the following documents:
  • Main text
  • 12864_2020_Article_7282.pdf
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Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels.

Journal Of Human Genetics
Carlson, Jenna C JC; Weeks, Daniel E DE; Hawley, Nicola L NL; Sun, Guangyun G; Cheng, Hong H; Naseri, Take T; Reupena, Muagututi'a Sefuiva MS; Tuitele, John J; Deka, Ranjan R; McGarvey, Stephen T ST; Minster, Ryan L RL
Publication Date: 2021-02

Variant appearance in text: rs1160985
PubMed Link: 32759990
Variant Present in the following documents:
  • Main text
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A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.

Molecular Genetics & Genomic Medicine
Soyal, Selma M SM; Kwik, Markus M; Kalev, Ognian O; Lenz, Stefan S; Zara, Greta G; Strasser, Peter P; Patsch, Wolfgang W; Weis, Serge S
Publication Date: 2020-08

Variant appearance in text: rs1160985
PubMed Link: 32472747
Variant Present in the following documents:
  • Main text
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Relationship between ethanol consumption and TBL2 rs17145738 on LDL-C concentration in Japanese adults: a four season 3-day weighed diet record study.

Bmc Nutrition
Akimoto, S S; Goto, C C; Kuriki, K K
Publication Date: 2019

Variant appearance in text: rs1160985
PubMed Link: 32153974
Variant Present in the following documents:
  • Main text
  • 40795_2019_Article_315.pdf
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Non-coding variability at the APOE locus contributes to the Alzheimer's risk.

Nature Communications
Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Kwok, Timothy C Y TCY; Mok, Vincent C T VCT; Guo, Qihao Q; Ip, Fanny C FC; Chen, Yuewen Y; Mullapudi, Nandita N; , ; Giusti-Rodríguez, Paola P; Sullivan, Patrick F PF; Hardy, John J; Fu, Amy K Y AKY; Li, Yun Y; Ip, Nancy Y NY
Publication Date: 2019-07-25

Variant appearance in text: rs1160985
PubMed Link: 31346172
Variant Present in the following documents:
  • 41467_2019_10945_MOESM1_ESM.pdf
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Novel methods for integration and visualization of genomics and genetics data in Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Bihlmeyer, Nathan A NA; Merrill, Emily E; Lambert, Yann Y; Srivastava, Gyan P GP; Clark, Timothy W TW; Hyman, Bradley T BT; Das, Sudeshna S
Publication Date: 2019-06

Variant appearance in text: rs1160985
PubMed Link: 30935898
Variant Present in the following documents:
  • Main text
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Association of apolipoprotein E gene polymorphisms with blood lipids and their interaction with dietary factors.

Lipids In Health And Disease
Shatwan, Israa M IM; Winther, Kristian Hillert KH; Ellahi, Basma B; Elwood, Peter P; Ben-Shlomo, Yoav Y; Givens, Ian I; Rayman, Margaret P MP; Lovegrove, Julie A JA; Vimaleswaran, Karani S KS
Publication Date: 2018-04-30

Variant appearance in text: rs1160985
PubMed Link: 29712557
Variant Present in the following documents:
  • Main text
  • 12944_2018_Article_744.pdf
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Apolipoprotein E gene polymorphism modifies fasting total cholesterol concentrations in response to replacement of dietary saturated with monounsaturated fatty acids in adults at moderate cardiovascular disease risk.

Lipids In Health And Disease
Shatwan, Israa M IM; Weech, Michelle M; Jackson, Kim G KG; Lovegrove, Julie A JA; Vimaleswaran, Karani S KS
Publication Date: 2017-11-23

Variant appearance in text: rs1160985
PubMed Link: 29169396
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_606.pdf
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A novel SCCA approach via truncated ℓ1-norm and truncated group lasso for brain imaging genetics.

Bioinformatics (Oxford, England)
Du, Lei L; Liu, Kefei K; Zhang, Tuo T; Yao, Xiaohui X; Yan, Jingwen J; Risacher, Shannon L SL; Han, Junwei J; Guo, Lei L; Saykin, Andrew J AJ; Shen, Li L; ,
Publication Date: 2018-01-15

Variant appearance in text: rs1160985
PubMed Link: 28968815
Variant Present in the following documents:
  • Main text
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The genetic overlap between mood disorders and cardiometabolic diseases: a systematic review of genome wide and candidate gene studies.

Translational Psychiatry
Amare, A T AT; Schubert, K O KO; Klingler-Hoffmann, M M; Cohen-Woods, S S; Baune, B T BT
Publication Date: 2017-01-24

Variant appearance in text: rs1160985
PubMed Link: 28117839
Variant Present in the following documents:
  • Main text
  • tp2016261a.pdf
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Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry
Ferrari, Raffaele R; Wang, Yunpeng Y; Vandrovcova, Jana J; Guelfi, Sebastian S; Witeolar, Aree A; Karch, Celeste M CM; Schork, Andrew J AJ; Fan, Chun C CC; Brewer, James B JB; , ; , ; , ; Momeni, Parastoo P; Schellenberg, Gerard D GD; Dillon, William P WP; Sugrue, Leo P LP; Hess, Christopher P CP; Yokoyama, Jennifer S JS; Bonham, Luke W LW; Rabinovici, Gil D GD; Miller, Bruce L BL; Andreassen, Ole A OA; Dale, Anders M AM; Hardy, John J; Desikan, Rahul S RS
Publication Date: 2017-02

Variant appearance in text: rs1160985
PubMed Link: 27899424
Variant Present in the following documents:
  • Main text
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Polygenic Analysis of Late-Onset Alzheimer's Disease from Mainland China.

Plos One
Jiao, Bin B; Liu, Xiaoyan X; Zhou, Lin L; Wang, Maggie Haitian MH; Zhou, Yafang Y; Xiao, Tingting T; Zhang, Weiwei W; Sun, Rui R; Waye, Mary Miu Yee MM; Tang, Beisha B; Shen, Lu L
Publication Date: 2015

Variant appearance in text: rs1160985
PubMed Link: 26680604
Variant Present in the following documents:
  • Main text
  • pone.0144898.pdf
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A Generalized Sequential Bonferroni Procedure for GWAS in Admixed Populations Incorporating Admixture Mapping Information into Association Tests.

Human Heredity
Chen, Wenan W; Ren, Chunfeng C; Qin, Huaizhen H; Archer, Kellie J KJ; Ouyang, Weiwei W; Liu, Nianjun N; Chen, Xiangning X; Luo, Xingguang X; Zhu, Xiaofeng X; Sun, Shumei S; Gao, Guimin G
Publication Date: 2015

Variant appearance in text: rs1160985
PubMed Link: 26087776
Variant Present in the following documents:
  • Main text
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A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

Plos One
Zhou, Li L; He, Meian M; Mo, Zengnan Z; Wu, Chen C; Yang, Handong H; Yu, Dianke D; Yang, Xiaobo X; Zhang, Xiaomin X; Wang, Yiqin Y; Sun, Jielin J; Gao, Yong Y; Tan, Aihua A; He, Yunfeng Y; Zhang, Haiying H; Qin, Xue X; Zhu, Jingwen J; Li, Huaixing H; Lin, Xu X; Zhu, Jiang J; Min, Xinwen X; Lang, Mingjian M; Li, Dongfeng D; Zhai, Kan K; Chang, Jiang J; Tan, Wen W; Yuan, Jing J; Chen, Weihong W; Wang, Youjie Y; Wei, Sheng S; Miao, Xiaoping X; Wang, Feng F; Fang, Weimin W; Liang, Yuan Y; Deng, Qifei Q; Dai, Xiayun X; Lin, Dafeng D; Huang, Suli S; Guo, Huan H; Lilly Zheng, S S; Xu, Jianfeng J; Lin, Dongxin D; Hu, Frank B FB; Wu, Tangchun T
Publication Date: 2013

Variant appearance in text: rs1160985
PubMed Link: 24386095
Variant Present in the following documents:
  • Main text
  • pone.0082420.pdf
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Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics
Coram, Marc A MA; Duan, Qing Q; Hoffmann, Thomas J TJ; Thornton, Timothy T; Knowles, Joshua W JW; Johnson, Nicholas A NA; Ochs-Balcom, Heather M HM; Donlon, Timothy A TA; Martin, Lisa W LW; Eaton, Charles B CB; Robinson, Jennifer G JG; Risch, Neil J NJ; Zhu, Xiaofeng X; Kooperberg, Charles C; Li, Yun Y; Reiner, Alex P AP; Tang, Hua H
Publication Date: 2013-06-06

Variant appearance in text: rs1160985
PubMed Link: 23726366
Variant Present in the following documents:
  • Main text
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Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.

American Journal Of Human Genetics
Reiner, Alex P AP; Beleza, Sandra S; Franceschini, Nora N; Auer, Paul L PL; Robinson, Jennifer G JG; Kooperberg, Charles C; Peters, Ulrike U; Tang, Hua H
Publication Date: 2012-09-07

Variant appearance in text: rs1160985
PubMed Link: 22939635
Variant Present in the following documents:
  • Main text
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A comprehensive genetic association study of Alzheimer disease in African Americans.

Archives Of Neurology
Logue, Mark W MW; Schu, Matthew M; Vardarajan, Badri N BN; Buros, Jacki J; Green, Robert C RC; Go, Rodney C P RC; Griffith, Patrick P; Obisesan, Thomas O TO; Shatz, Rhonna R; Borenstein, Amy A; Cupples, L Adrienne LA; Lunetta, Kathryn L KL; Fallin, M Daniele MD; Baldwin, Clinton T CT; Farrer, Lindsay A LA; ,
Publication Date: 2011-12

Variant appearance in text: rs1160985
PubMed Link: 22159054
Variant Present in the following documents:
  • Main text
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Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.

Journal Of Human Genetics
Bekris, Lynn M LM; Lutz, Franziska F; Yu, Chang-En CE
Publication Date: 2012-01

Variant appearance in text: rs1160985
PubMed Link: 22089642
Variant Present in the following documents:
  • Main text
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Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease.

Archives Of Neurology
Cruchaga, Carlos C; Nowotny, Petra P; Kauwe, John S K JS; Ridge, Perry G PG; Mayo, Kevin K; Bertelsen, Sarah S; Hinrichs, Anthony A; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; Goate, Alison M AM; ,
Publication Date: 2011-08

Variant appearance in text: rs1160985
PubMed Link: 21825236
Variant Present in the following documents:
  • Main text
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Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics
Lettre, Guillaume G; Palmer, Cameron D CD; Young, Taylor T; Ejebe, Kenechi G KG; Allayee, Hooman H; Benjamin, Emelia J EJ; Bennett, Franklyn F; Bowden, Donald W DW; Chakravarti, Aravinda A; Dreisbach, Al A; Farlow, Deborah N DN; Folsom, Aaron R AR; Fornage, Myriam M; Forrester, Terrence T; Fox, Ervin E; Haiman, Christopher A CA; Hartiala, Jaana J; Harris, Tamara B TB; Hazen, Stanley L SL; Heckbert, Susan R SR; Henderson, Brian E BE; Hirschhorn, Joel N JN; Keating, Brendan J BJ; Kritchevsky, Stephen B SB; Larkin, Emma E; Li, Mingyao M; Rudock, Megan E ME; McKenzie, Colin A CA; Meigs, James B JB; Meng, Yang A YA; Mosley, Tom H TH; Newman, Anne B AB; Newton-Cheh, Christopher H CH; Paltoo, Dina N DN; Papanicolaou, George J GJ; Patterson, Nick N; Post, Wendy S WS; Psaty, Bruce M BM; Qasim, Atif N AN; Qu, Liming L; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Liu, Yongmei Y; Shrader, Peter P; Siscovick, David S DS; Tang, W H Wilson WH; Taylor, Herman A HA; Tracy, Russell P RP; Vasan, Ramachandran S RS; Waters, Kevin M KM; Wilks, Rainford R; Wilson, James G JG; Fabsitz, Richard R RR; Gabriel, Stacey B SB; Kathiresan, Sekar S; Boerwinkle, Eric E
Publication Date: 2011-02-10

Variant appearance in text: rs1160985
PubMed Link: 21347282
Variant Present in the following documents:
  • Main text
  • pgen.1001300.pdf
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A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease.

The Pharmacogenomics Journal
Roses, A D AD; Lutz, M W MW; Amrine-Madsen, H H; Saunders, A M AM; Crenshaw, D G DG; Sundseth, S S SS; Huentelman, M J MJ; Welsh-Bohmer, K A KA; Reiman, E M EM
Publication Date: 2010-10

Variant appearance in text: rs1160985
PubMed Link: 20029386
Variant Present in the following documents:
  • Main text
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Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.

Plos One
Potkin, Steven G SG; Guffanti, Guia G; Lakatos, Anita A; Turner, Jessica A JA; Kruggel, Frithjof F; Fallon, James H JH; Saykin, Andrew J AJ; Orro, Alessandro A; Lupoli, Sara S; Salvi, Erika E; Weiner, Michael M; Macciardi, Fabio F; ,
Publication Date: 2009-08-07

Variant appearance in text: rs1160985
PubMed Link: 19668339
Variant Present in the following documents:
  • Main text
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Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

Bmc Medical Genetics
Kaushal, Ritesh R; Woo, Daniel D; Pal, Prodipto P; Haverbusch, Mary M; Xi, Huifeng H; Moomaw, Charles C; Sekar, Padmini P; Kissela, Brett B; Kleindorfer, Dawn D; Flaherty, Matthew M; Sauerbeck, Laura L; Chakraborty, Ranajit R; Broderick, Joseph J; Deka, Ranjan R
Publication Date: 2007-07-31

Variant appearance in text: rs1160985
PubMed Link: 17672902
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-49.pdf
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