ACE c.2059-460A>G

Variant ID: 17-61563458-A-G

NM_000789.3(ACE):c.2059-460A>G

This variant was identified in 21 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: rs4329
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels.

Journal Of Medical Virology
Gholami, Morteza M; Zoughi, Marziyeh M; Hasanzad, Mandana M; Larijani, Bagher B; Amoli, Mahsa M MM
Publication Date: 2022-11-28

Variant appearance in text: rs4329
PubMed Link: 36443248
Variant Present in the following documents:
  • Main text
  • JMV-95-0.pdf
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The genetic basis of inter-individual variation in recovery from traumatic brain injury.

Npj Regenerative Medicine
Cortes, Daniel D; Pera, Martin F MF
Publication Date: 2021-01-21

Variant appearance in text: rs4329
PubMed Link: 33479258
Variant Present in the following documents:
  • 41536_2020_114_MOESM1_ESM.pdf
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The Intersection between COVID-19, the Gene Family of ACE2 and Alzheimer's Disease.

Neuroscience Insights
Haghighi, Mahdi Montazer MM; Kakhki, Erfan Ghani EG; Sato, Christine C; Ghani, Mahdi M; Rogaeva, Ekaterina E
Publication Date: 2020

Variant appearance in text: rs4329
PubMed Link: 33283188
Variant Present in the following documents:
  • Main text
  • 10.1177_2633105520975743.pdf
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Cumulative Influence of Inflammatory Response Genetic Variation on Long-Term Neurobehavioral Outcomes after Pediatric Traumatic Brain Injury Relative to Orthopedic Injury: An Exploratory Polygenic Risk Score.

Journal Of Neurotrauma
Treble-Barna, Amery A; Pilipenko, Valentina V; Wade, Shari L SL; Jegga, Anil G AG; Yeates, Keith Owen KO; Taylor, H Gerry HG; Martin, Lisa J LJ; Kurowski, Brad G BG
Publication Date: 2020-07-01

Variant appearance in text: rs4329
PubMed Link: 32024452
Variant Present in the following documents:
  • Main text
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PPARA genetic variants increase the risk for cardiac pumping function reductions following acute high-altitude exposure: A self-controlled study.

Molecular Genetics & Genomic Medicine
Yang, Jie J; Liu, Chuan C; Jihang, Zhang Z; Yu, Jie J; Dai, Limeng L; Ding, Xiaohan X; Qiu, Youzhu Y; Yu, Sanjiu S; Yang, Yuanqi Y; Wu, Yuzhang Y; Huang, Lan L
Publication Date: 2019-10

Variant appearance in text: rs4329
PubMed Link: 31407515
Variant Present in the following documents:
  • Main text
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4329
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Associations between SNPs and immune-related circulating proteins in schizophrenia.

Scientific Reports
Chan, Man K MK; Cooper, Jason D JD; Heilmann-Heimbach, Stefanie S; Frank, Josef J; Witt, Stephanie H SH; Nöthen, Markus M MM; Steiner, Johann J; Rietschel, Marcella M; Bahn, Sabine S
Publication Date: 2017-10-03

Variant appearance in text: rs4329
PubMed Link: 28974776
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_12986.pdf
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The Pharmacogenomic and Metabolomic Predictors of ACE Inhibitor and Angiotensin II Receptor Blocker Effectiveness and Safety.

Cardiovascular Drugs And Therapy
Flaten, Hania K HK; Monte, Andrew A AA
Publication Date: 2017-08

Variant appearance in text: rs4329
PubMed Link: 28741243
Variant Present in the following documents:
  • Main text
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Influence of angiotensin converting enzyme (ACE) gene rs4362 polymorphism on the progression of kidney failure in patients with autosomal dominant polycystic kidney disease (ADPKD).

The Indian Journal Of Medical Research
Ramanathan, Gnanasambandan G; Ghosh, Santu S; Elumalai, Ramprasad R; Periyasamy, Soundararajan S; Lakkakula, Bhaskar V K S BV
Publication Date: 2016-06

Variant appearance in text: rs4329
PubMed Link: 27748299
Variant Present in the following documents:
  • Main text
  • IJMR-143-748.pdf
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The Pharmacogenetic Footprint of ACE Inhibition: A Population-Based Metabolomics Study.

Plos One
Altmaier, Elisabeth E; Menni, Cristina C; Heier, Margit M; Meisinger, Christa C; Thorand, Barbara B; Quell, Jan J; Kobl, Michael M; Römisch-Margl, Werner W; Valdes, Ana M AM; Mangino, Massimo M; Waldenberger, Melanie M; Strauch, Konstantin K; Illig, Thomas T; Adamski, Jerzy J; Spector, Tim T; Gieger, Christian C; Suhre, Karsten K; Kastenmüller, Gabi G
Publication Date: 2016

Variant appearance in text: rs4329
PubMed Link: 27120469
Variant Present in the following documents:
  • Main text
  • pone.0153163.pdf
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Clinical and genetic factors related to cancer-induced bone pain and bone pain relief.

The Oncologist
Scarpi, Emanuela E; Calistri, Daniele D; Klepstad, Pål P; Kaasa, Stein S; Skorpen, Frank F; Habberstad, Ragnhild R; Nanni, Oriana O; Amadori, Dino D; Maltoni, Marco M
Publication Date: 2014-12

Variant appearance in text: rs4329
PubMed Link: 25342315
Variant Present in the following documents:
  • Main text
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Pleiotropic effect of common variants at ABO Glycosyltranferase locus in 9q32 on plasma levels of pancreatic lipase and angiotensin converting enzyme.

Plos One
,
Publication Date: 2014

Variant appearance in text: rs4329
PubMed Link: 24586218
Variant Present in the following documents:
  • Main text
  • pone.0055903.pdf
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Sex- and age-interacting eQTLs in human complex diseases.

Human Molecular Genetics
Yao, Chen C; Joehanes, Roby R; Johnson, Andrew D AD; Huan, Tianxiao T; Esko, Tõnu T; Ying, Saixia S; Freedman, Jane E JE; Murabito, Joanne J; Lunetta, Kathryn L KL; Metspalu, Andres A; Munson, Peter J PJ; Levy, Daniel D
Publication Date: 2014-04-01

Variant appearance in text: rs4329
PubMed Link: 24242183
Variant Present in the following documents:
  • Main text
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Fine-mapping angiotensin-converting enzyme gene: separate QTLs identified for hypertension and for ACE activity.

Plos One
Chung, Chia-Min CM; Wang, Ruey-Yun RY; Fann, Cathy S J CS; Chen, Jaw-Wen JW; Jong, Yuh-Shiun YS; Jou, Yuh-Shan YS; Yang, Hsin-Chou HC; Kang, Chih-Sen CS; Chen, Chien-Chung CC; Chang, Huan-Cheng HC; Pan, Wen-Harn WH
Publication Date: 2013

Variant appearance in text: rs4329
PubMed Link: 23469169
Variant Present in the following documents:
  • Main text
  • pone.0056119.pdf
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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations.

Genome Medicine
Robinette, Steven L SL; Holmes, Elaine E; Nicholson, Jeremy K JK; Dumas, Marc E ME
Publication Date: 2012-04-30

Variant appearance in text: rs4329
PubMed Link: 22546284
Variant Present in the following documents:
  • Main text
  • gm329.pdf
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Human metabolic individuality in biomedical and pharmaceutical research.

Nature
Suhre, Karsten K; Shin, So-Youn SY; Petersen, Ann-Kristin AK; Mohney, Robert P RP; Meredith, David D; Wägele, Brigitte B; Altmaier, Elisabeth E; , ; Deloukas, Panos P; Erdmann, Jeanette J; Grundberg, Elin E; Hammond, Christopher J CJ; de Angelis, Martin Hrabé MH; Kastenmüller, Gabi G; Köttgen, Anna A; Kronenberg, Florian F; Mangino, Massimo M; Meisinger, Christa C; Meitinger, Thomas T; Mewes, Hans-Werner HW; Milburn, Michael V MV; Prehn, Cornelia C; Raffler, Johannes J; Ried, Janina S JS; Römisch-Margl, Werner W; Samani, Nilesh J NJ; Small, Kerrin S KS; Wichmann, H-Erich HE; Zhai, Guangju G; Illig, Thomas T; Spector, Tim D TD; Adamski, Jerzy J; Soranzo, Nicole N; Gieger, Christian C
Publication Date: 2011-08-31

Variant appearance in text: rs4329
PubMed Link: 21886157
Variant Present in the following documents:
  • Main text
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Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction.

Rejuvenation Research
Kulminski, Alexander M AM; Culminskaya, Irina V IV; Ukraintseva, Svetlana V SV; Arbeev, Konstantin G KG; Akushevich, Igor I; Land, Kenneth C KC; Yashin, Anatoli I AI
Publication Date: 2010-02

Variant appearance in text: rs4329
PubMed Link: 20230274
Variant Present in the following documents:
  • Main text
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Renin angiotensin system gene polymorphisms and cerebral blood flow regulation: the MOBILIZE Boston study.

Stroke
Hajjar, Ihab I; Sorond, Farzaneh F; Hsu, Yi-Hsiang YH; Galica, Andrew A; Cupples, L Adrienne LA; Lipsitz, Lewis A LA
Publication Date: 2010-04

Variant appearance in text: rs4329
PubMed Link: 20185782
Variant Present in the following documents:
  • Main text
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An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Edwards, Todd L TL; Pericak-Vance, Margaret M; Gilbert, Johnny R JR; Haines, Jonathan L JL; Martin, Eden R ER; Ritchie, Marylyn D MD
Publication Date: 2009-07-05

Variant appearance in text: rs4329
PubMed Link: 19105203
Variant Present in the following documents:
  • Main text
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Association of polymorphisms in the Angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community.

American Journal Of Human Genetics
Meng, Yan Y; Baldwin, Clinton T CT; Bowirrat, Abdalla A; Waraska, Kristin K; Inzelberg, Rivka R; Friedland, Robert P RP; Farrer, Lindsay A LA
Publication Date: 2006-05

Variant appearance in text: rs4329
PubMed Link: 16642441
Variant Present in the following documents:
  • Main text
View BVdb publication page