TOMM40 c.339T>C ;(p.F113=)

Variant ID: 19-45395714-T-C

NM_001128917.1(TOMM40):c.339T>C;(p.F113=)

This variant was identified in 55 publications

View GRCh38 version.




Publications:


Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's disease related proteins.

Molecular Neurodegeneration
Oatman, Stephanie R SR; Reddy, Joseph S JS; Quicksall, Zachary Z; Carrasquillo, Minerva M MM; Wang, Xue X; Liu, Chia-Chen CC; Yamazaki, Yu Y; Nguyen, Thuy T TT; Malphrus, Kimberly K; Heckman, Michael M; Biswas, Kristi K; Nho, Kwangsik K; Baker, Matthew M; Martens, Yuka A YA; Zhao, Na N; Kim, Jun Pyo JP; Risacher, Shannon L SL; Rademakers, Rosa R; Saykin, Andrew J AJ; DeTure, Michael M; Murray, Melissa E ME; Kanekiyo, Takahisa T; , ; Dickson, Dennis W DW; Bu, Guojun G; Allen, Mariet M; Ertekin-Taner, Nilüfer N
Publication Date: 2023-01-07

Variant appearance in text: rs157581
PubMed Link: 36609403
Variant Present in the following documents:
  • Main text
  • 13024_2022_Article_592.pdf
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: TOMM40: 339T>C; rs157581
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TOMM40: F113F
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



Exploring the role of non-coding RNAs as potential candidate biomarkers in the cross-talk between diabetes mellitus and Alzheimer's disease.

Frontiers In Aging Neuroscience
Ghiam, Shokoofeh S; Eslahchi, Changiz C; Shahpasand, Koorosh K; Habibi-Rezaei, Mehran M; Gharaghani, Sajjad S
Publication Date: 2022

Variant appearance in text: rs157581
PubMed Link: 36092798
Variant Present in the following documents:
  • Main text
  • fnagi-14-955461.pdf
View BVdb publication page



Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology
Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC
Publication Date: 2022-07-08

Variant appearance in text: rs157581
PubMed Link: 35802478
Variant Present in the following documents:
  • noac171_suppl_suplementary_table_s1.xlsx, sheet 1
  • noac171_suppl_suplementary_table_s7.xlsx, sheet 1
View BVdb publication page



Exploring common genetic contributors to neuroprotection from amyloid pathology.

Brain Communications
Seto, Mabel M; Mahoney, Emily R ER; Dumitrescu, Logan L; Ramanan, Vijay K VK; Engelman, Corinne D CD; Deming, Yuetiva Y; Albert, Marilyn M; Johnson, Sterling C SC; Zetterberg, Henrik H; Blennow, Kaj K; Vemuri, Prashanthi P; Jefferson, Angela L AL; Hohman, Timothy J TJ; ,
Publication Date: 2022

Variant appearance in text: rs157581
PubMed Link: 35425899
Variant Present in the following documents:
  • fcac066_supplementary_data.pdf
View BVdb publication page



Role of the Mitochondrial Protein Import Machinery and Protein Processing in Heart Disease.

Frontiers In Cardiovascular Medicine
Zhao, Fujie F; Zou, Ming-Hui MH
Publication Date: 2021

Variant appearance in text: rs157581
PubMed Link: 34651031
Variant Present in the following documents:
  • Main text
  • fcvm-08-749756.pdf
View BVdb publication page



Superior Frontal Gyrus TOMM40-APOE Locus DNA Methylation in Alzheimer's Disease.

Journal Of Alzheimer'S Disease Reports
Bezuch, Natalia N; Bradburn, Steven S; Robinson, Andrew C AC; Pendleton, Neil N; Payton, Antony A; Murgatroyd, Chris C
Publication Date: 2021-04-06

Variant appearance in text: rs157581
PubMed Link: 34113784
Variant Present in the following documents:
  • Main text
  • adr-5-adr201000.pdf
View BVdb publication page



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: rs157581
PubMed Link: 34020725
Variant Present in the following documents:
  • 40478_2021_1199_MOESM1_ESM.pdf
View BVdb publication page



Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies.

Plos One
Wickland, Daniel P DP; Ren, Yingxue Y; Sinnwell, Jason P JP; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Carrasquillo, Minerva M MM; Ross, Owen A OA; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew E ME; Mainzer, Liudmila Sergeevna LS; Biernacka, Joanna M JM; Asmann, Yan W YW
Publication Date: 2021

Variant appearance in text: rs157581
PubMed Link: 33861770
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs157581
PubMed Link: 33815092
Variant Present in the following documents:
  • Main text
  • fnagi-13-646901.pdf
View BVdb publication page



Pro-inflammatory cytokine polymorphisms and interactions with dietary alcohol and estrogen, risk factors for invasive breast cancer using a post genome-wide analysis for gene-gene and gene-lifestyle interaction.

Scientific Reports
Jung, Su Yon SY; Papp, Jeanette C JC; Sobel, Eric M EM; Pellegrini, Matteo M; Yu, Herbert H; Zhang, Zuo-Feng ZF
Publication Date: 2021-01-13

Variant appearance in text: rs157581
PubMed Link: 33441805
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_80197.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: TOMM40: 339T>C; rs157581
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Pro-inflammatory cytokine polymorphisms in ONECUT2 and HNF4A and primary colorectal carcinoma: a post genome-wide gene-lifestyle interaction study.

American Journal Of Cancer Research
Jung, Su Yon SY; Papp, Jeanette C JC; Sobel, Eric M EM; Pellegrini, Matteo M; Yu, Herbert H; Zhang, Zuo-Feng ZF
Publication Date: 2020

Variant appearance in text: rs157581
PubMed Link: 33042629
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Zhou, Xiaopu X; Chen, Yu Y; Ip, Fanny C F FCF; Lai, Nicole C H NCH; Li, Yolanda Y T YYT; Jiang, Yuanbing Y; Zhong, Huan H; Chen, Yuewen Y; Zhang, Yulin Y; Ma, Shuangshuang S; Lo, Ronnie M N RMN; Cheung, Kit K; Tong, Estella P S EPS; Ko, Ho H; Shoai, Maryam M; Mok, Kin Y KY; Hardy, John J; Mok, Vincent C T VCT; Kwok, Timothy C Y TCY; Fu, Amy K Y AKY; Ip, Nancy Y NY
Publication Date: 2020

Variant appearance in text: rs157581
PubMed Link: 32775599
Variant Present in the following documents:
  • Main text
View BVdb publication page



A minor allele of the haplotype located in the 19q13 loci is associated with a decreased risk of hyper-LDL-cholesterolemia, and a balanced diet and high protein intake can reduce the risk.

Lipids In Health And Disease
Park, Sunmin S; Kang, Suna S
Publication Date: 2020-07-29

Variant appearance in text: rs157581
PubMed Link: 32727492
Variant Present in the following documents:
  • Main text
  • 12944_2020_Article_1352.pdf
View BVdb publication page



Whole-Exome Sequencing Analysis of Alzheimer's Disease in Non-APOE*4 Carriers.

Journal Of Alzheimer'S Disease : Jad
Fan, Kang-Hsien KH; Feingold, Eleanor E; Rosenthal, Samantha L SL; Demirci, F Yesim FY; Ganguli, Mary M; Lopez, Oscar L OL; Kamboh, M Ilyas MI
Publication Date: 2020

Variant appearance in text: rs157581
PubMed Link: 32651314
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: TOMM40: 339T>C; rs157581
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs157581
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports
Vacher, Michael M; Porter, Tenielle T; Villemagne, Victor L VL; Milicic, Lidija L; Peretti, Madeline M; Fowler, Christopher C; Martins, Ralph R; Rainey-Smith, Stephanie S; Ames, David D; Masters, Colin L CL; Rowe, Christopher C CC; Doecke, James D JD; Laws, Simon M SM
Publication Date: 2019-11-19

Variant appearance in text: rs157581
PubMed Link: 31745181
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_53604.pdf
View BVdb publication page



Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study.

Plos One
Best, Lyle G LG; Balakrishnan, Poojitha P; Cole, Shelley A SA; Haack, Karin K; Kocarnik, Jonathan M JM; Pankratz, Nathan N; Anderson, Matthew Z MZ; Franceschini, Nora N; Howard, Barbara V BV; Lee, Elisa T ET; North, Kari E KE; Umans, Jason G JG; Yracheta, Joseph M JM; Navas-Acien, Ana A; Voruganti, V Saroja VS
Publication Date: 2019

Variant appearance in text: rs157581
PubMed Link: 31622379
Variant Present in the following documents:
  • Main text
  • pone.0223574.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: TOMM40: F113F; rs157581
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



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: rs157581
PubMed Link: 31346172
Variant Present in the following documents:
  • 41467_2019_10945_MOESM1_ESM.pdf
View BVdb publication page



Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study.

Neurobiology Of Aging
Lutz, Michael W MW; Casanova, Ramon R; Saldana, Santiago S; Kuchibhatla, Maragatha M; Plassman, Brenda L BL; Hayden, Kathleen M KM
Publication Date: 2019-08

Variant appearance in text: rs157581
PubMed Link: 31201950
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: TOMM40: 339T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Biothiols and oxidative stress markers and polymorphisms of TOMM40 and APOC1 genes in Alzheimer's disease patients.

Oncotarget
Prendecki, Michal M; Florczak-Wyspianska, Jolanta J; Kowalska, Marta M; Ilkowski, Jan J; Grzelak, Teresa T; Bialas, Katarzyna K; Wiszniewska, Malgorzata M; Kozubski, Wojciech W; Dorszewska, Jolanta J
Publication Date: 2018-10-16

Variant appearance in text: rs157581
PubMed Link: 30443289
Variant Present in the following documents:
  • Main text
  • oncotarget-09-35207.pdf
View BVdb publication page



Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.

Molecular Psychiatry
Yan, Qi Q; Nho, Kwangsik K; Del-Aguila, Jorge L JL; Wang, Xingbin X; Risacher, Shannon L SL; Fan, Kang-Hsien KH; Snitz, Beth E BE; Aizenstein, Howard J HJ; Mathis, Chester A CA; Lopez, Oscar L OL; Demirci, F Yesim FY; Feingold, Eleanor E; Klunk, William E WE; Saykin, Andrew J AJ; , ; Cruchaga, Carlos C; Kamboh, M Ilyas MI
Publication Date: 2021-01

Variant appearance in text: rs157581
PubMed Link: 30361487
Variant Present in the following documents:
  • 41380_2018_246_MOESM1_ESM.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TOMM40: 339T>C; rs157581
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Zhao, Qianhua Q; Chen, Keliang K; Chen, Yuewen Y; Hardy, John J; Li, Yun Y; Fu, Amy K Y AKY; Guo, Qihao Q; Ip, Nancy Y NY; ,
Publication Date: 2018-02-20

Variant appearance in text: rs157581
PubMed Link: 29432188
Variant Present in the following documents:
  • pnas.1715554115.sapp.pdf
View BVdb publication page



Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort.

Plos One
Arpawong, Thalida E TE; Pendleton, Neil N; Mekli, Krisztina K; McArdle, John J JJ; Gatz, Margaret M; Armoskus, Chris C; Knowles, James A JA; Prescott, Carol A CA
Publication Date: 2017

Variant appearance in text: rs157581
PubMed Link: 28800603
Variant Present in the following documents:
  • Main text
  • pone.0182448.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: TOMM40: F113F; rs157581
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



The Effect of Propofol Versus Isoflurane Anesthesia on Human Cerebrospinal Fluid Markers of Alzheimer's Disease: Results of a Randomized Trial.

Journal Of Alzheimer'S Disease : Jad
Berger, Miles M; Nadler, Jacob W JW; Friedman, Allan A; McDonagh, David L DL; Bennett, Ellen R ER; Cooter, Mary M; Qi, Wenjing W; Laskowitz, Daniel T DT; Ponnusamy, Vikram V; Newman, Mark F MF; Shaw, Leslie M LM; Warner, David S DS; Mathew, Joseph P JP; James, Michael L ML; ,
Publication Date: 2016-04-15

Variant appearance in text: rs157581
PubMed Link: 27079717
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs157581
PubMed Link: 26680604
Variant Present in the following documents:
  • Main text
  • pone.0144898.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: TOMM40: F113F; rs157581
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.

Plos One
Li, Qingqin S QS; Parrado, Antonio R AR; Samtani, Mahesh N MN; Narayan, Vaibhav A VA; ,
Publication Date: 2015

Variant appearance in text: TOMM40: F113F; rs157581
PubMed Link: 26252872
Variant Present in the following documents:
  • pone.0134000.s004.xlsx, sheet 1
  • pone.0134000.s003.xlsx, sheet 1
View BVdb publication page



A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians.

Plos One
Shim, Heejung H; Chasman, Daniel I DI; Smith, Joshua D JD; Mora, Samia S; Ridker, Paul M PM; Nickerson, Deborah A DA; Krauss, Ronald M RM; Stephens, Matthew M
Publication Date: 2015

Variant appearance in text: rs157581
PubMed Link: 25898129
Variant Present in the following documents:
  • Main text
  • pone.0120758.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: TOMM40: F113F
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TOMM40: F113F; rs157581
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Human Molecular Genetics
Schick, Ursula M UM; Auer, Paul L PL; Bis, Joshua C JC; Lin, Honghuang H; Wei, Peng P; Pankratz, Nathan N; Lange, Leslie A LA; Brody, Jennifer J; Stitziel, Nathan O NO; Kim, Daniel S DS; Carlson, Christopher S CS; Fornage, Myriam M; Haessler, Jeffery J; Hsu, Li L; Jackson, Rebecca D RD; Kooperberg, Charles C; Leal, Suzanne M SM; Psaty, Bruce M BM; Boerwinkle, Eric E; Tracy, Russell R; Ardissino, Diego D; Shah, Svati S; Willer, Cristen C; Loos, Ruth R; Melander, Olle O; Mcpherson, Ruth R; Hovingh, Kees K; Reilly, Muredach M; Watkins, Hugh H; Girelli, Domenico D; Fontanillas, Pierre P; Chasman, Daniel I DI; Gabriel, Stacey B SB; Gibbs, Richard R; Nickerson, Deborah A DA; Kathiresan, Sekar S; Peters, Ulrike U; Dupuis, Josée J; Wilson, James G JG; Rich, Stephen S SS; Morrison, Alanna C AC; Benjamin, Emelia J EJ; Gross, Myron D MD; Reiner, Alex P AP; , ; ,
Publication Date: 2015-01-15

Variant appearance in text: TOMM40: Phe113=; rs157581
PubMed Link: 25187575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: TOMM40: F113F; rs157581
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
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TOMM40 in Cerebral Amyloid Angiopathy Related Intracerebral Hemorrhage: Comparative Genetic Analysis with Alzheimer's Disease.

Translational Stroke Research
Valant, Valerie V; Keenan, Brendan T BT; Anderson, Christopher D CD; Shulman, Joshua M JM; Devan, William J WJ; Ayres, Alison M AM; Schwab, Kristin K; Goldstein, Joshua N JN; Viswanathan, Anand A; Greenberg, Steven M SM; Bennett, David A DA; De Jager, Philip L PL; Rosand, Jonathan J; Biffi, Alessandro A; ,
Publication Date: 2012-07

Variant appearance in text: rs157581
PubMed Link: 24323865
Variant Present in the following documents:
  • Main text
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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: TOMM40: F113F; rs157581
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
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A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

Molecular Psychiatry
Davies, G G; Harris, S E SE; Reynolds, C A CA; Payton, A A; Knight, H M HM; Liewald, D C DC; Lopez, L M LM; Luciano, M M; Gow, A J AJ; Corley, J J; Henderson, R R; Murray, C C; Pattie, A A; Fox, H C HC; Redmond, P P; Lutz, M W MW; Chiba-Falek, O O; Linnertz, C C; Saith, S S; Haggarty, P P; McNeill, G G; Ke, X X; Ollier, W W; Horan, M M; Roses, A D AD; Ponting, C P CP; Porteous, D J DJ; Tenesa, A A; Pickles, A A; Starr, J M JM; Whalley, L J LJ; Pedersen, N L NL; Pendleton, N N; Visscher, P M PM; Deary, I J IJ
Publication Date: 2014-01

Variant appearance in text: rs157581
PubMed Link: 23207651
Variant Present in the following documents:
  • Main text
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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Diabetologia
Albrechtsen, A A; Grarup, N N; Li, Y Y; Sparsø, T T; Tian, G G; Cao, H H; Jiang, T T; Kim, S Y SY; Korneliussen, T T; Li, Q Q; Nie, C C; Wu, R R; Skotte, L L; Morris, A P AP; Ladenvall, C C; Cauchi, S S; Stančáková, A A; Andersen, G G; Astrup, A A; Banasik, K K; Bennett, A J AJ; Bolund, L L; Charpentier, G G; Chen, Y Y; Dekker, J M JM; Doney, A S F AS; Dorkhan, M M; Forsen, T T; Frayling, T M TM; Groves, C J CJ; Gui, Y Y; Hallmans, G G; Hattersley, A T AT; He, K K; Hitman, G A GA; Holmkvist, J J; Huang, S S; Jiang, H H; Jin, X X; Justesen, J M JM; Kristiansen, K K; Kuusisto, J J; Lajer, M M; Lantieri, O O; Li, W W; Liang, H H; Liao, Q Q; Liu, X X; Ma, T T; Ma, X X; Manijak, M P MP; Marre, M M; Mokrosiński, J J; Morris, A D AD; Mu, B B; Nielsen, A A AA; Nijpels, G G; Nilsson, P P; Palmer, C N A CN; Rayner, N W NW; Renström, F F; Ribel-Madsen, R R; Robertson, N N; Rolandsson, O O; Rossing, P P; Schwartz, T W TW; , ; Slagboom, P E PE; Sterner, M M; , ; Tang, M M; Tarnow, L L; Tuomi, T T; van't Riet, E E; van Leeuwen, N N; Varga, T V TV; Vestmar, M A MA; Walker, M M; Wang, B B; Wang, Y Y; Wu, H H; Xi, F F; Yengo, L L; Yu, C C; Zhang, X X; Zhang, J J; Zhang, Q Q; Zhang, W W; Zheng, H H; Zhou, Y Y; Altshuler, D D; 't Hart, L M LM; Franks, P W PW; Balkau, B B; Froguel, P P; McCarthy, M I MI; Laakso, M M; Groop, L L; Christensen, C C; Brandslund, I I; Lauritzen, T T; Witte, D R DR; Linneberg, A A; Jørgensen, T T; Hansen, T T; Wang, J J; Nielsen, R R; Pedersen, O O
Publication Date: 2013-02

Variant appearance in text: rs157581
PubMed Link: 23160641
Variant Present in the following documents:
  • 125_2012_2756_MOESM28_ESM.pdf
  • 125_2012_2756_MOESM26_ESM.pdf
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Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One
Liu, Xiaoyan X; Yue, Chunxian C; Xu, Zhi Z; Shu, Hao H; Pu, Mengjia M; Yu, Hui H; Shi, Yongmei Y; Zhuang, Liying L; Xu, Xiaohui X; Zhang, Zhijun Z
Publication Date: 2012

Variant appearance in text: rs157581
PubMed Link: 22911757
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: rs157581
PubMed Link: 22089642
Variant Present in the following documents:
  • Main text
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Alzheimer's disease: diagnostics, prognostics and the road to prevention.

The Epma Journal
Grossman, Iris I; Lutz, Michael W MW; Crenshaw, Donna G DG; Saunders, Ann M AM; Burns, Daniel K DK; Roses, Allen D AD
Publication Date: 2010-06

Variant appearance in text: rs157581
PubMed Link: 21124753
Variant Present in the following documents:
  • Main text
  • 13167_2010_Article_24.pdf
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The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.

Neurobiology Of Aging
Guerreiro, Rita J RJ; Gustafson, Deborah R DR; Hardy, John J
Publication Date: 2012-03

Variant appearance in text: rs157581
PubMed Link: 20594621
Variant Present in the following documents:
  • Main text
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Genetics of Alzheimer disease in the pre- and post-GWAS era.

Alzheimer'S Research & Therapy
Ertekin-Taner, Nilüfer N
Publication Date: 2010-03-05

Variant appearance in text: rs157581
PubMed Link: 20236449
Variant Present in the following documents:
  • Main text
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On Jim Watson's APOE status: genetic information is hard to hide.

European Journal Of Human Genetics : Ejhg
Nyholt, Dale R DR; Yu, Chang-En CE; Visscher, Peter M PM
Publication Date: 2009-02

Variant appearance in text: rs157581
PubMed Link: 18941475
Variant Present in the following documents:
  • Main text
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A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.

Bmc Medical Genomics
Abraham, Richard R; Moskvina, Valentina V; Sims, Rebecca R; Hollingworth, Paul P; Morgan, Angharad A; Georgieva, Lyudmila L; Dowzell, Kimberley K; Cichon, Sven S; Hillmer, Axel M AM; O'Donovan, Michael C MC; Williams, Julie J; Owen, Michael J MJ; Kirov, George G
Publication Date: 2008-09-29

Variant appearance in text: rs157581
PubMed Link: 18823527
Variant Present in the following documents:
  • Main text
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Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

Neurogenetics
Kauwe, John S K JS; Wang, Jun J; Mayo, Kevin K; Morris, John C JC; Fagan, Anne M AM; Holtzman, David M DM; Goate, Alison M AM
Publication Date: 2009-02

Variant appearance in text: rs157581
PubMed Link: 18813964
Variant Present in the following documents:
  • Main text
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Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels.

Journal Of Alzheimer'S Disease : Jad
Bekris, Lynn M LM; Millard, Steven P SP; Galloway, Nichole M NM; Vuletic, Simona S; Albers, John J JJ; Li, Ge G; Galasko, Douglas R DR; DeCarli, Charles C; Farlow, Martin R MR; Clark, Chris M CM; Quinn, Joseph F JF; Kaye, Jeffrey A JA; Schellenberg, Gerard D GD; Tsuang, Debby D; Peskind, Elaine R ER; Yu, Chang-En CE
Publication Date: 2008-04

Variant appearance in text: rs157581
PubMed Link: 18430993
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: rs157581
PubMed Link: 17672902
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-49.pdf
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Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association.

Genomics
Yu, Chang-En CE; Seltman, Howard H; Peskind, Elaine R ER; Galloway, Nichole N; Zhou, Peter X PX; Rosenthal, Elisabeth E; Wijsman, Ellen M EM; Tsuang, Debby W DW; Devlin, Bernie B; Schellenberg, Gerard D GD
Publication Date: 2007-06

Variant appearance in text: rs157581
PubMed Link: 17434289
Variant Present in the following documents:
  • Main text
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