ZPR1 c.1093-336G>C

Variant ID: 11-116653296-C-G

NM_003904.3(ZPR1):c.1093-336G>C

This variant was identified in 36 publications

View GRCh38 version.




Publications:


Genetics of Cholesterol-Related Genes in Metabolic Syndrome: A Review of Current Evidence.

Biomedicines
Wong, Sok Kuan SK; Ramli, Fitri Fareez FF; Ali, Adli A; Ibrahim, Nurul 'Izzah N'
Publication Date: 2022-12-13

Variant appearance in text: rs2075290
PubMed Link: 36551995
Variant Present in the following documents:
  • biomedicines-10-03239.pdf
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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: rs2075290
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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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: rs2075290
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension.

Children (Basel, Switzerland)
Močnik, Mirjam M; Zagradišnik, Boris B; Marčun Varda, Nataša N
Publication Date: 2022-08-21

Variant appearance in text: rs2075290
PubMed Link: 36010152
Variant Present in the following documents:
  • Main text
  • children-09-01262.pdf
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"Big Data" Approaches for Prevention of the Metabolic Syndrome.

Frontiers In Genetics
Jiang, Xinping X; Yang, Zhang Z; Wang, Shuai S; Deng, Shuanglin S
Publication Date: 2022

Variant appearance in text: rs2075290
PubMed Link: 35571045
Variant Present in the following documents:
  • Main text
  • fgene-13-810152.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: rs2075290
PubMed Link: 34934334
Variant Present in the following documents:
  • Main text
  • jir-14-6833.pdf
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Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake.

Nature Communications
Zimoń, Magdalena M; Huang, Yunfeng Y; Trasta, Anthi A; Halavatyi, Aliaksandr A; Liu, Jimmy Z JZ; Chen, Chia-Yen CY; Blattmann, Peter P; Klaus, Bernd B; Whelan, Christopher D CD; Sexton, David D; John, Sally S; Huber, Wolfgang W; Tsai, Ellen A EA; Pepperkok, Rainer R; Runz, Heiko H
Publication Date: 2021-11-05

Variant appearance in text: rs2075290
PubMed Link: 34741066
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26761.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: rs2075290
PubMed Link: 32902719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of superoxide dismutase 1 are associated with the serum lipid profiles of Han Chinese adults in a sexually dimorphic manner.

Plos One
Xu, Ping P; Zhu, Yumei Y; Liang, Xiongshun X; Gong, Chunmei C; Xu, Yuanfei Y; Huang, Changhua C; Liu, Xiao-Li XL; Zhou, Ji-Chang JC
Publication Date: 2020

Variant appearance in text: rs2075290
PubMed Link: 32559230
Variant Present in the following documents:
  • Main text
  • pone.0234716.pdf
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Genome wide analysis of gene expression changes in skin from patients with type 2 diabetes.

Plos One
Takematsu, Eri E; Spencer, Adrianne A; Auster, Jeff J; Chen, Po-Chih PC; Graham, Annette A; Martin, Patricia P; Baker, Aaron B AB
Publication Date: 2020

Variant appearance in text: rs2075290
PubMed Link: 32084158
Variant Present in the following documents:
  • pone.0225267.pdf
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Association of BUD13-ZNF259-APOA5-APOA1-SIK3 cluster polymorphism in 11q23.3 and structure of APOA5 with increased plasma triglyceride levels in a Korean population.

Scientific Reports
Kim, Han-Kyul HK; Anwar, Muhammad Ayaz MA; Choi, Sangdun S
Publication Date: 2019-06-05

Variant appearance in text: rs2075290
PubMed Link: 31165758
Variant Present in the following documents:
  • 41598_2019_Article_44699.pdf
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A Guide to Applying the Sex-Gender Perspective to Nutritional Genomics.

Nutrients
Corella, Dolores D; Coltell, Oscar O; Portolés, Olga O; Sotos-Prieto, Mercedes M; Fernández-Carrión, Rebeca R; Ramirez-Sabio, Judith B JB; Zanón-Moreno, Vicente V; Mattei, Josiemer J; Sorlí, José V JV; Ordovas, Jose M JM
Publication Date: 2018-12-20

Variant appearance in text: rs2075290
PubMed Link: 30577445
Variant Present in the following documents:
  • nutrients-11-00004.pdf
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Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine
Yamada, Yoshiji Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Yasukochi, Yoshiki Y; Takeuchi, Ichiro I; Sakuma, Jun J
Publication Date: 2019-01

Variant appearance in text: rs2075290
PubMed Link: 30365130
Variant Present in the following documents:
  • Main text
  • ijmm-43-01-0057.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: rs2075290
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
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Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population.

Physiological Genomics
Yasukochi, Yoshiki Y; Sakuma, Jun J; Takeuchi, Ichiro I; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Yamada, Yoshiji Y
Publication Date: 2018-03-01

Variant appearance in text: rs2075290
PubMed Link: 29341862
Variant Present in the following documents:
  • Main text
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Quantitative trait loci at the 11q23.3 chromosomal region related to dyslipidemia in the population of Andhra Pradesh, India.

Lipids In Health And Disease
Pranavchand, Rayabarapu R; Reddy, Battini Mohan BM
Publication Date: 2017-06-13

Variant appearance in text: rs2075290
PubMed Link: 28610615
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget
Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M
Publication Date: 2017-06-13

Variant appearance in text: rs2075290
PubMed Link: 28473662
Variant Present in the following documents:
  • Main text
  • oncotarget-08-38950.pdf
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Gender-specific interactions of MTHFR C677T and MTRR A66G polymorphisms with overweight/obesity on serum lipid levels in a Chinese Han population.

Lipids In Health And Disease
Zhi, Xueyuan X; Yang, Boyi B; Fan, Shujun S; Wang, Yanxun Y; Wei, Jian J; Zheng, Quanmei Q; Sun, Guifan G
Publication Date: 2016-10-28

Variant appearance in text: rs2075290
PubMed Link: 27793164
Variant Present in the following documents:
  • 12944_2016_Article_354.pdf
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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2016-09-15

Variant appearance in text: rs2075290
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
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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: rs2075290
PubMed Link: 27411854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Insulin Resistance and the Metabolic Syndrome.

Current Cardiology Reports
Brown, Audrey E AE; Walker, Mark M
Publication Date: 2016-08

Variant appearance in text: rs2075290
PubMed Link: 27312935
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: rs2075290
PubMed Link: 27257688
Variant Present in the following documents:
  • Main text
  • pone.0153720.pdf
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Genome-wide association study of metabolic syndrome in koreans.

Genomics & Informatics
Jeong, Seok Won SW; Chung, Myungguen M; Park, Soo-Jung SJ; Cho, Seong Beom SB; Hong, Kyung-Won KW
Publication Date: 2014-12

Variant appearance in text: rs2075290
PubMed Link: 25705157
Variant Present in the following documents:
  • gni-12-187.pdf
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A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Nature Communications
Timpson, Nicholas J NJ; Walter, Klaudia K; Min, Josine L JL; Tachmazidou, Ioanna I; Malerba, Giovanni G; Shin, So-Youn SY; Chen, Lu L; Futema, Marta M; Southam, Lorraine L; Iotchkova, Valentina V; Cocca, Massimiliano M; Huang, Jie J; Memari, Yasin Y; McCarthy, Shane S; Danecek, Petr P; Muddyman, Dawn D; Mangino, Massimo M; Menni, Cristina C; Perry, John R B JR; Ring, Susan M SM; Gaye, Amadou A; Dedoussis, George G; Farmaki, Aliki-Eleni AE; Burton, Paul P; Talmud, Philippa J PJ; Gambaro, Giovanni G; Spector, Tim D TD; Smith, George Davey GD; Durbin, Richard R; Richards, J Brent JB; Humphries, Steve E SE; Zeggini, Eleftheria E; Soranzo, Nicole N; , ; ,
Publication Date: 2014-09-16

Variant appearance in text: rs2075290
PubMed Link: 25225788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels.

Scientific Reports
Aung, Lynn-Htet-Htet LH; Yin, Rui-Xing RX; Wu, Jin-Zhen JZ; Wu, Dong-Feng DF; Wang, Wei W; Li, Hui H
Publication Date: 2014-07-03

Variant appearance in text: rs2075290
PubMed Link: 24989072
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
Aung, Lynn Htet Htet LH; Yin, Rui-Xing RX; Wu, Dong-Feng DF; Wang, Wei W; Liu, Cheng-Wu CW; Pan, Shang-Ling SL
Publication Date: 2014-07

Variant appearance in text: rs2075290
PubMed Link: 24780069
Variant Present in the following documents:
  • Main text
  • jcmm0018-1417.pdf
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Sex-specific association of the zinc finger protein 259 rs2075290 polymorphism and serum lipid levels.

International Journal Of Medical Sciences
Aung, Lynn Htet Htet LH; Yin, Rui-Xing RX; Wu, Dong-Feng DF; Wang, Wei W; Wu, Jin-Zhen JZ; Liu, Cheng-Wu CW
Publication Date: 2014

Variant appearance in text: rs2075290
PubMed Link: 24688311
Variant Present in the following documents:
  • Main text
  • ijmsv11p0471.pdf
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Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study.

Arteriosclerosis, Thrombosis, And Vascular Biology
Hoogeveen, Ron C RC; Gaubatz, John W JW; Sun, Wensheng W; Dodge, Rhiannon C RC; Crosby, Jacy R JR; Jiang, Jennifer J; Couper, David D; Virani, Salim S SS; Kathiresan, Sekar S; Boerwinkle, Eric E; Ballantyne, Christie M CM
Publication Date: 2014-05

Variant appearance in text: rs2075290
PubMed Link: 24558110
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: rs2075290
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
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Mixed modeling of meta-analysis P-values (MixMAP) suggests multiple novel gene loci for low density lipoprotein cholesterol.

Plos One
Foulkes, Andrea S AS; Matthews, Gregory J GJ; Das, Ujjwal U; Ferguson, Jane F JF; Lin, Rongheng R; Reilly, Muredach P MP
Publication Date: 2013

Variant appearance in text: rs2075290
PubMed Link: 23405096
Variant Present in the following documents:
  • Main text
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Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study.

Cardiovascular Diabetology
Povel, Cécile M CM; Boer, Jolanda M A JM; Onland-Moret, N Charlotte NC; Dollé, Martijn E T ME; Feskens, Edith J M EJ; van der Schouw, Yvonne T YT
Publication Date: 2012-10-29

Variant appearance in text: rs2075290
PubMed Link: 23101478
Variant Present in the following documents:
  • Main text
  • 1475-2840-11-133.pdf
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Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ
Publication Date: 2012

Variant appearance in text: rs2075290
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
  • pone.0036473.pdf
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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: rs2075290
PubMed Link: 21889769
Variant Present in the following documents:
  • Main text
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S
Publication Date: 2011-07-26

Variant appearance in text: rs2075290
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
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A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

Diabetes
Kraja, Aldi T AT; Vaidya, Dhananjay D; Pankow, James S JS; Goodarzi, Mark O MO; Assimes, Themistocles L TL; Kullo, Iftikhar J IJ; Sovio, Ulla U; Mathias, Rasika A RA; Sun, Yan V YV; Franceschini, Nora N; Absher, Devin D; Li, Guo G; Zhang, Qunyuan Q; Feitosa, Mary F MF; Glazer, Nicole L NL; Haritunians, Talin T; Hartikainen, Anna-Liisa AL; Knowles, Joshua W JW; North, Kari E KE; Iribarren, Carlos C; Kral, Brian B; Yanek, Lisa L; O'Reilly, Paul F PF; McCarthy, Mark I MI; Jaquish, Cashell C; Couper, David J DJ; Chakravarti, Aravinda A; Psaty, Bruce M BM; Becker, Lewis C LC; Province, Michael A MA; Boerwinkle, Eric E; Quertermous, Thomas T; Palotie, Leena L; Jarvelin, Marjo-Riitta MR; Becker, Diane M DM; Kardia, Sharon L R SL; Rotter, Jerome I JI; Chen, Yii-Der Ida YD; Borecki, Ingrid B IB
Publication Date: 2011-04

Variant appearance in text: rs2075290
PubMed Link: 21386085
Variant Present in the following documents:
  • Main text
  • 1329.pdf
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