ACE c.1922-224A>G

Variant ID: 17-61562373-A-G

NM_000789.3(ACE):c.1922-224A>G

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Association between Interactions among ACE Gene Polymorphisms and Essential Hypertension in Patients in the Hefei Region, Anhui, China.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas
Wang, Li L; Song, Ting-Ting TT; Dong, Chang-Wu CW
Publication Date: 2023

Variant appearance in text: rs4318
PubMed Link: 37091860
Variant Present in the following documents:
  • JRAAS2023-1159973.pdf
View BVdb publication page



A systematic review of nonsynonymous single nucleotide polymorphisms in the renin-angiotensin-aldosterone system.

Cardiology Journal
Rechciński, Tomasz T; Kasprzak, Jarosław D JD
Publication Date: 2021-06-01

Variant appearance in text: rs4318
PubMed Link: 34060646
Variant Present in the following documents:
  • Main text
  • cardj-29-6-1020.pdf
View BVdb publication page



Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: rs4318
PubMed Link: 32345996
Variant Present in the following documents:
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: rs4318
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Moe, Sharon M SM; Long, Jin J; Schwantes-An, Tae-Hwi Linus TL; Decker, Brian S BS; Wetherill, Leah L; Edenberg, Howard J HJ; Xuei, Xiaoling X; Vatta, Matteo M; Foroud, Tatiana M TM; Chertow, Glenn M GM
Publication Date: 2019-11-01

Variant appearance in text: rs4318
PubMed Link: 29982608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: rs4318
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
View BVdb publication page



Tbx20 controls the expression of the KCNH2 gene and of hERG channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Caballero, Ricardo R; Utrilla, Raquel G RG; Amorós, Irene I; Matamoros, Marcos M; Pérez-Hernández, Marta M; Tinaquero, David D; Alfayate, Silvia S; Nieto-Marín, Paloma P; Guerrero-Serna, Guadalupe G; Liu, Qing-Hua QH; Ramos-Mondragón, Roberto R; Ponce-Balbuena, Daniela D; Herron, Todd T; Campbell, Katherine F KF; Filgueiras-Rama, David D; Peinado, Rafael R; López-Sendón, José L JL; Jalife, José J; Delpón, Eva E; Tamargo, Juan J
Publication Date: 2017-01-17

Variant appearance in text: rs4318
PubMed Link: 28049825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc).

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas
Rodríguez-Reyna, Tatiana S TS; Núñez-Alvarez, Carlos C; Cruz-Lagunas, Alfredo A; Posadas-Sánchez, Rosalinda R; Pérez-Hernández, Nonanzit N; Jiménez-Alvarez, Luis L; Ramírez-Martínez, Gustavo G; Granados, Julio J; Vargas-Alarcón, Gilberto G; Zúñiga, Joaquín J
Publication Date: 2016-07

Variant appearance in text: rs4318
PubMed Link: 27488275
Variant Present in the following documents:
  • jraas-2016-0019.pdf
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs4318
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Single nucleotide polymorphisms of the angiotensin-converting enzyme (ACE) gene are associated with essential hypertension and increased ACE enzyme levels in Mexican individuals.

Plos One
Martínez-Rodríguez, Nancy N; Posadas-Romero, Carlos C; Villarreal-Molina, Teresa T; Vallejo, Maite M; Del-Valle-Mondragón, Leonardo L; Ramírez-Bello, Julian J; Valladares, Adan A; Cruz-López, Miguel M; Vargas-Alarcón, Gilberto G
Publication Date: 2013

Variant appearance in text: rs4318
PubMed Link: 23741507
Variant Present in the following documents:
  • Main text
  • pone.0065700.pdf
View BVdb publication page



Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors.

Molecular Psychiatry
Wong, M-L ML; Dong, C C; Andreev, V V; Arcos-Burgos, M M; Licinio, J J
Publication Date: 2012-06

Variant appearance in text: rs4318
PubMed Link: 22449891
Variant Present in the following documents:
  • Main text
  • mp201213a.pdf
View BVdb publication page



Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.

Plos One
Nesterovitch, Andrew B AB; Hogarth, Kyle D KD; Adarichev, Vyacheslav A VA; Vinokour, Elena I EI; Schwartz, David E DE; Solway, Julian J; Danilov, Sergei M SM
Publication Date: 2009-12-14

Variant appearance in text: rs4318
PubMed Link: 20011602
Variant Present in the following documents:
  • Main text
  • pone.0008282.pdf
View BVdb publication page



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: rs4318
PubMed Link: 16642441
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure program.

Genome Research
Zhu, Xiaofeng X; Yan, Denise D; Cooper, Richard S RS; Luke, Amy A; Ikeda, Morna A MA; Chang, Yen-Pei C YP; Weder, Alan A; Chakravarti, Aravinda A
Publication Date: 2003-02

Variant appearance in text: rs4318
PubMed Link: 12566395
Variant Present in the following documents:
  • Main text
View BVdb publication page