PTGS2 c.1532T>C ;(p.V511A)

Variant ID: 1-186643768-A-G

NM_000963.2(PTGS2):c.1532T>C;(p.V511A)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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: PTGS2: V511A; rs5273
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: PTGS2: V511A; rs5273
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Interactions of Colorectal Cancer, Dietary Fats, and Polymorphisms of Arachidonate Lipoxygenase and Cyclooxygenase Genes: A Literature Review.

Frontiers In Oncology
Gholamalizadeh, Maryam M; Majidi, Nazanin N; Tajaddod, Shirin S; Abdollahi, Sepideh S; Poorhosseini, Seyed Mohammad SM; Ahmadzadeh, Mina M; Naimi Joubani, Mohammad M; Mirzaei Dahka, Samaneh S; Shafaei, Hanieh H; Hajiesmaeil, Mogge M; Alizadeh, Atiyeh A; Doaei, Saeid S; Houshiar-Rad, Anahita A
Publication Date: 2022

Variant appearance in text: PTGS2: V511A; rs5273
PubMed Link: 35928873
Variant Present in the following documents:
  • Main text
  • fonc-12-865208.pdf
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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances
Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF
Publication Date: 2022-08-23

Variant appearance in text: rs5273
PubMed Link: 35381074
Variant Present in the following documents:
  • advancesADV2021005648-suppl1.pdf
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Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Science Advances
Zhou, Yitian Y; Arribas, Gabriel Herras GH; Turku, Ainoleena A; Jürgenson, Tuuli T; Mkrtchian, Souren S; Krebs, Kristi K; Wang, Yi Y; Svobodova, Barbora B; Milani, Lili L; Schulte, Gunnar G; Korabecny, Jan J; Gastaldello, Stefano S; Lauschke, Volker M VM
Publication Date: 2021-09-03

Variant appearance in text: PTGS2: V511A; rs5273
PubMed Link: 34516913
Variant Present in the following documents:
  • sciadv.abi6856.pdf
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[Gene polymorphism in oral lichen planus].

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal Of Stomatology
Pan, Ying-Xiao YX; Guo, Da-Wei DW; Li, Xin X; Liu, Heng-Yi HY; Lu, Shu-Lai SL
Publication Date: 2020-12-01

Variant appearance in text: rs5273
PubMed Link: 33377347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: rs5273
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
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Mendelian randomisation: A powerful and inexpensive method for identifying and excluding non-genetic risk factors for colorectal cancer.

Molecular Aspects Of Medicine
Cornish, Alex J AJ; Tomlinson, Ian P M IPM; Houlston, Richard S RS
Publication Date: 2019-10

Variant appearance in text: PTGS2: Val511Ala
PubMed Link: 30710596
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Adenomas - Genetic factors in colorectal cancer prevention.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Witold, Kycler K; Anna, Kubiak K; Maciej, Trojanowski T; Jakub, Janowski J
Publication Date: 2018

Variant appearance in text: rs5273
PubMed Link: 29463957
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: PTGS2: V511A; rs5273
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: PTGS2: V511A; rs5273
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Systematic review: interactions between aspirin, and other nonsteroidal anti-inflammatory drugs, and polymorphisms in relation to colorectal cancer.

Alimentary Pharmacology & Therapeutics
Andersen, V V; Vogel, U U
Publication Date: 2014-07

Variant appearance in text: PTGS2: Val511Ala
PubMed Link: 24889212
Variant Present in the following documents:
  • apt0040-0147.pdf
View BVdb publication page



Cyclooxygenase-2 polymorphisms and susceptibility to colorectal cancer: a meta-analysis.

Yonsei Medical Journal
Wang, Jun J; Guo, Xufeng X; Zhang, Jixiang J; Song, Jia J; Ji, Mengyao M; Yu, Shijie S; Wang, Jing J; Cao, Zhuo Z; Dong, Weiguo W
Publication Date: 2013-11

Variant appearance in text: PTGS2: Val511Ala; rs5273
PubMed Link: 24142638
Variant Present in the following documents:
  • Main text
  • ymj-54-1353.pdf
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Celecoxib pathways: pharmacokinetics and pharmacodynamics.

Pharmacogenetics And Genomics
Gong, Li L; Thorn, Caroline F CF; Bertagnolli, Monica M MM; Grosser, Tilo T; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2012-04

Variant appearance in text: rs5273
PubMed Link: 22336956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hematopoietic prostaglandin D synthase (HPGDS): a high stability, Val187Ile isoenzyme common among African Americans and its relationship to risk for colorectal cancer.

Prostaglandins & Other Lipid Mediators
Tippin, Brigette L BL; Levine, A Joan AJ; Materi, Alicia M AM; Song, Wen-Liang WL; Keku, Temitope O TO; Goodman, Julie E JE; Sansbury, Leah B LB; Das, Sudipto S; Dai, Aihua A; Kwong, Alan M AM; Lin, Amy M AM; Lin, John M JM; Park, Jae Man JM; Patterson, Ruth E RE; Chlebowski, Rowan T RT; Garavito, R Michael RM; Inoue, Tsuyoshi T; Cho, Wonhwa W; Lawson, John A JA; Kapoor, Shiv S; Kolonel, Laurence N LN; Le Marchand, Loïc L; Haile, Robert W RW; Sandler, Robert S RS; Lin, Henry J HJ
Publication Date: 2012-01

Variant appearance in text: PTGS2: Val511Ala; rs5273
PubMed Link: 21821144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research
Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B
Publication Date: 2011

Variant appearance in text: rs5273
PubMed Link: 21708280
Variant Present in the following documents:
  • Main text
View BVdb publication page



PharmGKB summary: very important pharmacogene information for PTGS2.

Pharmacogenetics And Genomics
Thorn, Caroline F CF; Grosser, Tilo T; Klein, Teri E TE; Altman, Russ B RB
Publication Date: 2011-09

Variant appearance in text: rs5273
PubMed Link: 21063235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphic human prostaglandin H synthase-2 proteins and their interactions with cyclooxygenase substrates and inhibitors.

The Pharmacogenomics Journal
Liu, W W; Poole, E M EM; Ulrich, C M CM; Kulmacz, R J RJ
Publication Date: 2011-10

Variant appearance in text: PTGS2: V511A
PubMed Link: 20548327
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of gene-drug interactions for nonsteroidal anti-inflammatory drug use in preventing colorectal neoplasia.

The Pharmacogenomics Journal
Cross, J T JT; Poole, E M EM; Ulrich, C M CM
Publication Date: 2008-08

Variant appearance in text: PTGS2: Val511Ala
PubMed Link: 18195728
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assembly of inflammation-related genes for pathway-focused genetic analysis.

Plos One
Loza, Matthew J MJ; McCall, Charles E CE; Li, Liwu L; Isaacs, William B WB; Xu, Jianfeng J; Chang, Bao-Li BL
Publication Date: 2007-10-17

Variant appearance in text: PTGS2: Val511Ala
PubMed Link: 17940599
Variant Present in the following documents:
  • pone.0001035.pdf
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Cyclooxygenase polymorphisms and risk of cardiovascular events: the Atherosclerosis Risk in Communities (ARIC) study.

Clinical Pharmacology And Therapeutics
Lee, C R CR; North, K E KE; Bray, M S MS; Couper, D J DJ; Heiss, G G; Zeldin, D C DC
Publication Date: 2008-01

Variant appearance in text: PTGS2: V511A; rs5273
PubMed Link: 17495879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/COX2) and risk of colorectal cancer.

British Journal Of Cancer
Cox, D G DG; Pontes, C C; Guino, E E; Navarro, M M; Osorio, A A; Canzian, F F; Moreno, V V; ,
Publication Date: 2004-07-19

Variant appearance in text: PTGS2: Val511Ala
PubMed Link: 15173859
Variant Present in the following documents:
  • Main text
  • 91-6601906a.pdf
View BVdb publication page