ZPR1 c.424+124G>A

Variant ID: 11-116657561-C-T

NM_003904.3(ZPR1):c.424+124G>A

This variant was identified in 25 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: rs3741298
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Pleiotropic genetic architecture and novel loci for C-reactive protein levels.

Nature Communications
Koskeridis, Fotios F; Evangelou, Evangelos E; Said, Saredo S; Boyle, Joseph J JJ; Elliott, Paul P; Dehghan, Abbas A; Tzoulaki, Ioanna I
Publication Date: 2022-11-14

Variant appearance in text: rs3741298
PubMed Link: 36376304
Variant Present in the following documents:
  • Main text
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: rs3741298
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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Polymorphisms of the 11q23.3 Locus Affect the Risk and Mortality of Coronary Artery Disease.

Journal Of Clinical Medicine
Iwanicki, Tomasz T; Iwanicka, Joanna J; Balcerzyk-Matić, Anna A; Nowak, Tomasz T; Mizia-Stec, Katarzyna K; Bańka, Paweł P; Filipecki, Artur A; Krauze, Jolanta J; Jarosz, Alicja A; Górczyńska-Kosiorz, Sylwia S; Ochalska-Tyka, Anna A; Żak, Iwona I; Niemiec, Paweł P
Publication Date: 2022-08-03

Variant appearance in text: rs3741298
PubMed Link: 35956147
Variant Present in the following documents:
  • Main text
  • jcm-11-04532.pdf
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Polymorphism rs10105606 of LPL as a Novel Risk Factor for Microalbuminuria.

Journal Of Inflammation Research
Lim, Zhu Wei ZW; Chen, Wei Liang WL
Publication Date: 2021

Variant appearance in text: rs3741298
PubMed Link: 34934334
Variant Present in the following documents:
  • Main text
  • jir-14-6833.pdf
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Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.

Human Genetics
Hebbar, Prashantha P; Abubaker, Jehad Ahmed JA; Abu-Farha, Mohamed M; Alsmadi, Osama O; Elkum, Naser N; Alkayal, Fadi F; John, Sumi Elsa SE; Channanath, Arshad A; Iqbal, Rasheeba R; Pitkaniemi, Janne J; Tuomilehto, Jaakko J; Sladek, Robert R; Al-Mulla, Fahd F; Thanaraj, Thangavel Alphonse TA
Publication Date: 2021-03

Variant appearance in text: rs3741298
PubMed Link: 32902719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses.

Bmc Medicine
Seyed Khoei, Nazlisadat N; Jenab, Mazda M; Murphy, Neil N; Banbury, Barbara L BL; Carreras-Torres, Robert R; Viallon, Vivian V; Kühn, Tilman T; Bueno-de-Mesquita, Bas B; Aleksandrova, Krasimira K; Cross, Amanda J AJ; Weiderpass, Elisabete E; Stepien, Magdalena M; Bulmer, Andrew A; Tjønneland, Anne A; Boutron-Ruault, Marie-Christine MC; Severi, Gianluca G; Carbonnel, Franck F; Katzke, Verena V; Boeing, Heiner H; Bergmann, Manuela M MM; Trichopoulou, Antonia A; Karakatsani, Anna A; Martimianaki, Georgia G; Palli, Domenico D; Tagliabue, Giovanna G; Panico, Salvatore S; Tumino, Rosario R; Sacerdote, Carlotta C; Skeie, Guri G; Merino, Susana S; Bonet, Catalina C; Rodríguez-Barranco, Miguel M; Gil, Leire L; Chirlaque, Maria-Dolores MD; Ardanaz, Eva E; Myte, Robin R; Hultdin, Johan J; Perez-Cornago, Aurora A; Aune, Dagfinn D; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Baron, John A JA; Berndt, Sonja I SI; Bézieau, Stéphane S; Brenner, Hermann H; Campbell, Peter T PT; Casey, Graham G; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Cotterchio, Michelle M; Gallinger, Steven S; Gruber, Stephen B SB; Haile, Robert W RW; Hampe, Jochen J; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Li L; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Joshi, Amit D AD; Kampman, Ellen E; Larsson, Susanna C SC; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Lindor, Noralane M NM; Martín, Vicente V; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Parfrey, Patrick S PS; Pharoah, Paul D P PDP; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schmit, Stephanie L SL; Schoen, Robert E RE; Slattery, Martha L ML; Thibodeau, Stephen N SN; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zhang, Xuehong X; Ferrari, Pietro P; Anton, Gabriele G; Peters, Annette A; Peters, Ulrike U; Gunter, Marc J MJ; Wagner, Karl-Heinz KH; Freisling, Heinz H
Publication Date: 2020-09-03

Variant appearance in text: rs3741298
PubMed Link: 32878631
Variant Present in the following documents:
  • 12916_2020_1703_MOESM1_ESM.pdf
View BVdb publication page



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: rs3741298
PubMed Link: 32759990
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantile-specific heritability of high-density lipoproteins with implications for precision medicine.

Journal Of Clinical Lipidology
Williams, Paul T PT
Publication Date: 2020

Variant appearance in text: rs3741298
PubMed Link: 32600822
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations.

Scientific Reports
Williams, Paul T PT
Publication Date: 2020-03-11

Variant appearance in text: rs3741298
PubMed Link: 32161301
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_60965.pdf
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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: ZNF259: 424+124G>A; rs3741298
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Genetic determinants of clinical heterogeneity of the coronary artery disease in the population of Hyderabad, India.

Human Genomics
Pranavchand, Rayabarapu R; Kumar, Arramraju Sreenivas AS; Reddy, Battini Mohan BM
Publication Date: 2017-03-04

Variant appearance in text: rs3741298
PubMed Link: 28257648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.

Plos One
Parra, Esteban J EJ; Mazurek, Andrew A; Gignoux, Christopher R CR; Sockell, Alexandra A; Agostino, Michael M; Morris, Andrew P AP; Petty, Lauren E LE; Hanis, Craig L CL; Cox, Nancy J NJ; Valladares-Salgado, Adan A; Below, Jennifer E JE; Cruz, Miguel M
Publication Date: 2017

Variant appearance in text: rs3741298
PubMed Link: 28245265
Variant Present in the following documents:
  • Main text
  • pone.0172880.pdf
View BVdb publication page



Two-stage association study to identify the genetic susceptibility of a novel common variant of rs2075290 in ZPR1 to type 2 diabetes.

Scientific Reports
Guan, Fanglin F; Niu, Yu Y; Zhang, Tianxiao T; Liu, Songfang S; Ma, Lei L; Qi, Ting T; Feng, Jia J; Zuo, Hong H; Li, Guohong G; Liu, Xufeng X; Wang, Shujin S
Publication Date: 2016-07-14

Variant appearance in text: rs3741298
PubMed Link: 27411854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct Patterns of Association of Variants at 11q23.3 Chromosomal Region with Coronary Artery Disease and Dyslipidemia in the Population of Andhra Pradesh, India.

Plos One
Pranav Chand, Rayabarapu R; Kumar, Arramraju Sreenivas AS; Anuj, Kapadia K; Vishnupriya, Satti S; Mohan Reddy, Battini B
Publication Date: 2016

Variant appearance in text: rs3741298
PubMed Link: 27257688
Variant Present in the following documents:
  • Main text
  • pone.0153720.pdf
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Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease.

Circulation. Cardiovascular Genetics
Tada, Hayato H; Won, Hong-Hee HH; Melander, Olle O; Yang, Jian J; Peloso, Gina M GM; Kathiresan, Sekar S
Publication Date: 2014-10

Variant appearance in text: rs3741298
PubMed Link: 25170055
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of long-lived families reveals novel variants influencing high density-lipoprotein cholesterol.

Frontiers In Genetics
Feitosa, Mary F MF; Wojczynski, Mary K MK; Straka, Robert R; Kammerer, Candace M CM; Lee, Joseph H JH; Kraja, Aldi T AT; Christensen, Kaare K; Newman, Anne B AB; Province, Michael A MA; Borecki, Ingrid B IB
Publication Date: 2014

Variant appearance in text: rs3741298
PubMed Link: 24917880
Variant Present in the following documents:
  • Main text
  • fgene-05-00159.pdf
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Use of systems biology approaches to analysis of genome-wide association studies of myocardial infarction and blood cholesterol in the nurses' health study and health professionals' follow-up study.

Plos One
Reilly, Dermot D; Hao, Ke K; Jensen, Majken K MK; Girman, Cynthia J CJ; Rimm, Eric B EB
Publication Date: 2013

Variant appearance in text: rs3741298
PubMed Link: 24386469
Variant Present in the following documents:
  • Main text
  • pone.0085369.pdf
View BVdb publication page



Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.

Journal Of Lipid Research
Wu, Ying Y; Marvelle, Amanda F AF; Li, Jin J; Croteau-Chonka, Damien C DC; Feranil, Alan B AB; Kuzawa, Christopher W CW; Li, Yun Y; Adair, Linda S LS; Mohlke, Karen L KL
Publication Date: 2013-11

Variant appearance in text: rs3741298
PubMed Link: 24023260
Variant Present in the following documents:
  • Main text
View BVdb publication page



GUESS-ing polygenic associations with multiple phenotypes using a GPU-based evolutionary stochastic search algorithm.

Plos Genetics
Bottolo, Leonardo L; Chadeau-Hyam, Marc M; Hastie, David I DI; Zeller, Tanja T; Liquet, Benoit B; Newcombe, Paul P; Yengo, Loic L; Wild, Philipp S PS; Schillert, Arne A; Ziegler, Andreas A; Nielsen, Sune F SF; Butterworth, Adam S AS; Ho, Weang Kee WK; Castagné, Raphaële R; Munzel, Thomas T; Tregouet, David D; Falchi, Mario M; Cambien, François F; Nordestgaard, Børge G BG; Fumeron, Fredéric F; Tybjærg-Hansen, Anne A; Froguel, Philippe P; Danesh, John J; Petretto, Enrico E; Blankenberg, Stefan S; Tiret, Laurence L; Richardson, Sylvia S
Publication Date: 2013

Variant appearance in text: rs3741298
PubMed Link: 23950726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Properties of local interactions and their potential value in complementing genome-wide association studies.

Plos One
Wei, Wenhua W; Gyenesei, Attila A; Semple, Colin A M CA; Haley, Chris S CS
Publication Date: 2013

Variant appearance in text: rs3741298
PubMed Link: 23940718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs3741298
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
  • pgen.1003379.s009.pdf
  • pgen.1003379.s006.pdf
  • pgen.1003379.pdf
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Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma.

Genome Medicine
Raffler, Johannes J; Römisch-Margl, Werner W; Petersen, Ann-Kristin AK; Pagel, Philipp P; Blöchl, Florian F; Hengstenberg, Christian C; Illig, Thomas T; Meisinger, Christa C; Stark, Klaus K; Wichmann, H-Erich HE; Adamski, Jerzy J; Gieger, Christian C; Kastenmüller, Gabi G; Suhre, Karsten K
Publication Date: 2013

Variant appearance in text: rs3741298
PubMed Link: 23414815
Variant Present in the following documents:
  • Main text
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Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

Plos One
Comuzzie, Anthony G AG; Cole, Shelley A SA; Laston, Sandra L SL; Voruganti, V Saroja VS; Haack, Karin K; Gibbs, Richard A RA; Butte, Nancy F NF
Publication Date: 2012

Variant appearance in text: rs3741298
PubMed Link: 23251661
Variant Present in the following documents:
  • Main text
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Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia.

Atherosclerosis
Brautbar, Ariel A; Covarrubias, Daniel D; Belmont, John J; Lara-Garduno, Fremiet F; Virani, Salim S SS; Jones, Peter H PH; Leal, Suzanne M SM; Ballantyne, Christie M CM
Publication Date: 2011-12

Variant appearance in text: rs3741298
PubMed Link: 21889769
Variant Present in the following documents:
  • Main text
View BVdb publication page