HPR c.92-90G>A

Variant ID: 16-72108093-G-A

NM_020995.3(HPR):c.92-90G>A

This variant was identified in 51 publications

View GRCh38 version.




Publications:


Interaction between SIDT2 and ABCA1 Variants with Nutrients on HDL-c Levels in Mexican Adults.

Nutrients
León-Reyes, Guadalupe G; Argoty-Pantoja, Anna D AD; Rivera-Paredez, Berenice B; Hidalgo-Bravo, Alberto A; Flores, Yvonne N YN; Salmerón, Jorge J; Velázquez-Cruz, Rafael R
Publication Date: 2023-01-11

Variant appearance in text: rs2000999
PubMed Link: 36678241
Variant Present in the following documents:
  • Main text
  • nutrients-15-00370.pdf
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Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

Scientific Reports
Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Del-Aguila, Jorge L JL; Fernandez, Maria Victoria MV; Carrell, David D; Black, Kathleen K; Budde, John J; Ma, ShengMei S; Saef, Benjamin B; Howells, Bill B; Bertelsen, Sarah S; Bailey, Matthew M; Ridge, Perry G PG; , ; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Lee, Jin-Moo JM; Heitsch, Laura L; Kauwe, John J; Goate, Alison A; Piccio, Laura L; Cruchaga, Carlos C
Publication Date: 2016-01-04

Variant appearance in text: rs2000999
PubMed Link: 36647296
Variant Present in the following documents:
  • srep18092-s1.pdf
  • srep18092.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: rs2000999
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: rs2000999
PubMed Link: 36376304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: rs2000999
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.pdf
View BVdb publication page



A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.

Nature Communications
Jhun, Min-A MA; Mendelson, Michael M; Wilson, Rory R; Gondalia, Rahul R; Joehanes, Roby R; Salfati, Elias E; Zhao, Xiaoping X; Braun, Kim Valeska Emilie KVE; Do, Anh Nguyet AN; Hedman, Åsa K ÅK; Zhang, Tao T; Carnero-Montoro, Elena E; Shen, Jincheng J; Bartz, Traci M TM; Brody, Jennifer A JA; Montasser, May E ME; O'Connell, Jeff R JR; Yao, Chen C; Xia, Rui R; Boerwinkle, Eric E; Grove, Megan M; Guan, Weihua W; Liliane, Pfeiffer P; Singmann, Paula P; Müller-Nurasyid, Martina M; Meitinger, Thomas T; Gieger, Christian C; Peters, Annette A; Zhao, Wei W; Ware, Erin B EB; Smith, Jennifer A JA; Dhana, Klodian K; van Meurs, Joyce J; Uitterlinden, Andre A; Ikram, Mohammad Arfan MA; Ghanbari, Mohsen M; Zhi, Deugi D; Gustafsson, Stefan S; Lind, Lars L; Li, Shengxu S; Sun, Dianjianyi D; Spector, Tim D TD; Chen, Yii-der Ida YI; Damcott, Coleen C; Shuldiner, Alan R AR; Absher, Devin M DM; Horvath, Steve S; Tsao, Philip S PS; Kardia, Sharon S; Psaty, Bruce M BM; Sotoodehnia, Nona N; Bell, Jordana T JT; Ingelsson, Erik E; Chen, Wei W; Dehghan, Abbas A; Arnett, Donna K DK; Waldenberger, Melanie M; Hou, Lifang L; Whitsel, Eric A EA; Baccarelli, Andrea A; Levy, Daniel D; Fornage, Myriam M; Irvin, Marguerite R MR; Assimes, Themistocles L TL
Publication Date: 2021-06-28

Variant appearance in text: rs2000999
PubMed Link: 34183656
Variant Present in the following documents:
  • 41467_2021_23899_MOESM1_ESM.pdf
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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs2000999
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
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Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases.

Nature Genetics
Zheng, Jie J; Haberland, Valeriia V; Baird, Denis D; Walker, Venexia V; Haycock, Philip C PC; Hurle, Mark R MR; Gutteridge, Alex A; Erola, Pau P; Liu, Yi Y; Luo, Shan S; Robinson, Jamie J; Richardson, Tom G TG; Staley, James R JR; Elsworth, Benjamin B; Burgess, Stephen S; Sun, Benjamin B BB; Danesh, John J; Runz, Heiko H; Maranville, Joseph C JC; Martin, Hannah M HM; Yarmolinsky, James J; Laurin, Charles C; Holmes, Michael V MV; Liu, Jimmy Z JZ; Estrada, Karol K; Santos, Rita R; McCarthy, Linda L; Waterworth, Dawn D; Nelson, Matthew R MR; Smith, George Davey GD; Butterworth, Adam S AS; Hemani, Gibran G; Scott, Robert A RA; Gaunt, Tom R TR
Publication Date: 2020-10

Variant appearance in text: rs2000999
PubMed Link: 32895551
Variant Present in the following documents:
  • EMS118445-supplement-Supplementary_Figures_and_notes.pdf
View BVdb publication page



Haptoglobin polymorphisms in Latin American populations.

Scientific Reports
Soejima, Mikiko M; Koda, Yoshiro Y
Publication Date: 2020-08-13

Variant appearance in text: rs2000999
PubMed Link: 32792581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iron Metabolism in Obesity and Metabolic Syndrome.

International Journal Of Molecular Sciences
González-Domínguez, Álvaro Á; Visiedo-García, Francisco M FM; Domínguez-Riscart, Jesús J; González-Domínguez, Raúl R; Mateos, Rosa M RM; Lechuga-Sancho, Alfonso María AM
Publication Date: 2020-08-01

Variant appearance in text: rs2000999
PubMed Link: 32752277
Variant Present in the following documents:
  • Main text
  • ijms-21-05529.pdf
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A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular Genetics & Genomic Medicine
Leal, Luis G LG; Hoggart, Clive C; Jarvelin, Marjo-Riitta MR; Herzig, Karl-Heinz KH; Sternberg, Michael J E MJE; David, Alessia A
Publication Date: 2020-06

Variant appearance in text: rs2000999
PubMed Link: 32307928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs2000999
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page



Haptoglobin genotype and outcome after aneurysmal subarachnoid haemorrhage.

Journal Of Neurology, Neurosurgery, And Psychiatry
Morton, Matthew J MJ; Hostettler, Isabel C IC; Kazmi, Nabila N; Alg, Varinder S VS; Bonner, Stephen S; Brown, Martin M MM; Durnford, Andrew A; Gaastra, Benjamin B; Garland, Patrick P; Grieve, Joan J; Kitchen, Neil N; Walsh, Daniel D; Zolnourian, Ardalan A; Houlden, Henry H; Gaunt, Tom R TR; Bulters, Diederik O DO; Werring, David J DJ; Galea, Ian I; ,
Publication Date: 2020-03

Variant appearance in text: rs2000999
PubMed Link: 31937585
Variant Present in the following documents:
  • Main text
View BVdb publication page



Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01

Variant appearance in text: rs2000999
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
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Association of rs2000999 in the haptoglobin gene with total cholesterol, HDL-C, and LDL-C levels in Mexican type 2 diabetes patients.

Medicine
Suarez-Sanchez, Fernando F; Vazquez-Moreno, Miguel M; Herrera-Lopez, Ema E; Gomez-Zamudio, Jaime H JH; Peralta-Romero, José J JJ; Castelan-Martinez, Osvaldo D OD; Cruz, Miguel M; Parra, Esteban J EJ; Valladares-Salgado, Adan A
Publication Date: 2019-09

Variant appearance in text: rs2000999
PubMed Link: 31574854
Variant Present in the following documents:
  • Main text
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs2000999
PubMed Link: 31551420
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12026.pdf
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



Association of haptoglobin phenotype with incident acute myocardial infarction in Chinese patients with type 2 diabetes.

Cardiovascular Diabetology
Gurung, Resham L RL; Yiamunaa, M M; Liu, Sylvia S; Liu, Jian Jun JJ; Chan, Clara C; Choo, Robin Wai Munn RWM; Ang, Keven K; Sum, Chee Fang CF; Tavintharan, Subramaniam S; Lim, Su Chi SC
Publication Date: 2019-05-30

Variant appearance in text: rs2000999
PubMed Link: 31146758
Variant Present in the following documents:
  • Main text
View BVdb publication page



Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs2000999
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
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Genetic determinants of circulating haptoglobin concentration.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Kazmi, Nabila N; Koda, Yoshiro Y; Ndiaye, Ndeye Coumba NC; Visvikis-Siest, Sophie S; Morton, Matthew J MJ; Gaunt, Tom R TR; Galea, Ian I
Publication Date: 2019-07

Variant appearance in text: rs2000999
PubMed Link: 30898509
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances.

Elife
Timmers, Paul Rhj PR; Mounier, Ninon N; Lall, Kristi K; Fischer, Krista K; Ning, Zheng Z; Feng, Xiao X; Bretherick, Andrew D AD; Clark, David W DW; , ; Shen, Xia X; Esko, Tõnu T; Kutalik, Zoltán Z; Wilson, James F JF; Joshi, Peter K PK
Publication Date: 2019-01-15

Variant appearance in text: rs2000999
PubMed Link: 30642433
Variant Present in the following documents:
  • elife-39856.pdf
View BVdb publication page



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: HPR: 92-90G>A; rs2000999
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs2000999
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
View BVdb publication page



Genetic markers for urine haptoglobin is associated with decline in renal function in type 2 diabetes in East Asians.

Scientific Reports
Gurung, Resham Lal RL; Dorajoo, Rajkumar R; Liu, Sylvia S; M, Yiamunaa Y; Liu, Jian-Jun JJ; Wang, Ling L; Guo, Lin L; Yu, Xueqing X; Liu, Jian-Jun JJ; Lim, Su Chi SC
Publication Date: 2018-03-23

Variant appearance in text: rs2000999
PubMed Link: 29572449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interactions between Genetics and Sugar-Sweetened Beverage Consumption on Health Outcomes: A Review of Gene-Diet Interaction Studies.

Frontiers In Endocrinology
Haslam, Danielle E DE; McKeown, Nicola M NM; Herman, Mark A MA; Lichtenstein, Alice H AH; Dashti, Hassan S HS
Publication Date: 2017

Variant appearance in text: rs2000999
PubMed Link: 29375475
Variant Present in the following documents:
  • Main text
  • fendo-08-00368.pdf
View BVdb publication page



Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.

Nature Communications
Carayol, Jérôme J; Chabert, Christian C; Di Cara, Alessandro A; Armenise, Claudia C; Lefebvre, Gregory G; Langin, Dominique D; Viguerie, Nathalie N; Metairon, Sylviane S; Saris, Wim H M WHM; Astrup, Arne A; Descombes, Patrick P; Valsesia, Armand A; Hager, Jörg J
Publication Date: 2017-12-12

Variant appearance in text: rs2000999
PubMed Link: 29234017
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_2182.pdf
View BVdb publication page



Endothelial cell apoptosis correlates with low haptoglobin concentrations in diabetes.

Diabetes & Vascular Disease Research
Dalan, Rinkoo R; Liu, Xiaofeng X; Goh, Liuh Ling LL; Bing, Sun S; Luo, Kathy Qian KQ
Publication Date: 2017-11

Variant appearance in text: rs2000999
PubMed Link: 28830235
Variant Present in the following documents:
  • Main text
  • 10.1177_1479164117719827.pdf
View BVdb publication page



A common deletion in the haptoglobin gene associated with blood cholesterol levels among Chinese women.

Journal Of Human Genetics
Zheng, Neil S NS; Bastarache, Lisa A LA; Bastarache, Julie A JA; Lu, Yingchang Y; Ware, Lorraine B LB; Shu, Xiao-Ou XO; Denny, Joshua C JC; Long, Jirong J
Publication Date: 2017-10

Variant appearance in text: rs2000999
PubMed Link: 28659611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.

Nature Genetics
Howson, Joanna M M JMM; Zhao, Wei W; Barnes, Daniel R DR; Ho, Weang-Kee WK; Young, Robin R; Paul, Dirk S DS; Waite, Lindsay L LL; Freitag, Daniel F DF; Fauman, Eric B EB; Salfati, Elias L EL; Sun, Benjamin B BB; Eicher, John D JD; Johnson, Andrew D AD; Sheu, Wayne H H WHH; Nielsen, Sune F SF; Lin, Wei-Yu WY; Surendran, Praveen P; Malarstig, Anders A; Wilk, Jemma B JB; Tybjærg-Hansen, Anne A; Rasmussen, Katrine L KL; Kamstrup, Pia R PR; Deloukas, Panos P; Erdmann, Jeanette J; Kathiresan, Sekar S; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; , ; Do, Ron R; Rader, Daniel J DJ; Johnson, Julie A JA; Hazen, Stanley L SL; Quyyumi, Arshed A AA; Spertus, John A JA; Pepine, Carl J CJ; Franceschini, Nora N; Justice, Anne A; Reiner, Alex P AP; Buyske, Steven S; Hindorff, Lucia A LA; Carty, Cara L CL; North, Kari E KE; Kooperberg, Charles C; Boerwinkle, Eric E; Young, Kristin K; Graff, Mariaelisa M; Peters, Ulrike U; Absher, Devin D; Hsiung, Chao A CA; Lee, Wen-Jane WJ; Taylor, Kent D KD; Chen, Ying-Hsiang YH; Lee, I-Te IT; Guo, Xiuqing X; Chung, Ren-Hua RH; Hung, Yi-Jen YJ; Rotter, Jerome I JI; Juang, Jyh-Ming J JJ; Quertermous, Thomas T; Wang, Tzung-Dau TD; Rasheed, Asif A; Frossard, Philippe P; Alam, Dewan S DS; Majumder, Abdulla Al Shafi AAS; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; , ; Chen, Yii-Der Ida YI; Nordestgaard, Børge G BG; Assimes, Themistocles L TL; Danesh, John J; Butterworth, Adam S AS; Saleheen, Danish D
Publication Date: 2017-07

Variant appearance in text: rs2000999
PubMed Link: 28530674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
Nagy, Reka R; Boutin, Thibaud S TS; Marten, Jonathan J; Huffman, Jennifer E JE; Kerr, Shona M SM; Campbell, Archie A; Evenden, Louise L; Gibson, Jude J; Amador, Carmen C; Howard, David M DM; Navarro, Pau P; Morris, Andrew A; Deary, Ian J IJ; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Smith, Blair H BH; Joshi, Peter P; Wilson, James F JF; Hastie, Nicholas D ND; Wright, Alan F AF; McIntosh, Andrew M AM; Porteous, David J DJ; Haley, Chris S CS; Vitart, Veronique V; Hayward, Caroline C
Publication Date: 2017-03-07

Variant appearance in text: rs2000999
PubMed Link: 28270201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Publication Date: 2017-02-27

Variant appearance in text: rs2000999
PubMed Link: 28240269
Variant Present in the following documents:
  • ncomms14357-s1.pdf
View BVdb publication page



Plasma Levels of Risk-Variant APOL1 Do Not Associate with Renal Disease in a Population-Based Cohort.

Journal Of The American Society Of Nephrology : Jasn
Kozlitina, Julia J; Zhou, Haihong H; Brown, Patricia N PN; Rohm, Rory J RJ; Pan, Yi Y; Ayanoglu, Gulesi G; Du, Xiaoyan X; Rimmer, Eric E; Reilly, Dermot F DF; Roddy, Thomas P TP; Cully, Doris F DF; Vogt, Thomas F TF; Blom, Daniel D; Hoek, Maarten M
Publication Date: 2016-10

Variant appearance in text: rs2000999
PubMed Link: 27005919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

Nature Genetics
Boettger, Linda M LM; Salem, Rany M RM; Handsaker, Robert E RE; Peloso, Gina M GM; Kathiresan, Sekar S; Hirschhorn, Joel N JN; McCarroll, Steven A SA
Publication Date: 2016-04

Variant appearance in text: rs2000999
PubMed Link: 26901066
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
Tang, Clara S CS; Zhang, He H; Cheung, Chloe Y Y CY; Xu, Ming M; Ho, Jenny C Y JC; Zhou, Wei W; Cherny, Stacey S SS; Zhang, Yan Y; Holmen, Oddgeir O; Au, Ka-Wing KW; Yu, Haiyi H; Xu, Lin L; Jia, Jia J; Porsch, Robert M RM; Sun, Lijie L; Xu, Weixian W; Zheng, Huiping H; Wong, Lai-Yung LY; Mu, Yiming Y; Dou, Jingtao J; Fong, Carol H Y CH; Wang, Shuyu S; Hong, Xueyu X; Dong, Liguang L; Liao, Yanhua Y; Wang, Jiansong J; Lam, Levina S M LS; Su, Xi X; Yan, Hua H; Yang, Min-Lee ML; Chen, Jin J; Siu, Chung-Wah CW; Xie, Gaoqiang G; Woo, Yu-Cho YC; Wu, Yangfeng Y; Tan, Kathryn C B KC; Hveem, Kristian K; Cheung, Bernard M Y BM; Zöllner, Sebastian S; Xu, Aimin A; Eugene Chen, Y Y; Jiang, Chao Qiang CQ; Zhang, Youyi Y; Lam, Tai-Hing TH; Ganesh, Santhi K SK; Huo, Yong Y; Sham, Pak C PC; Lam, Karen S L KS; Willer, Cristen J CJ; Tse, Hung-Fat HF; Gao, Wei W
Publication Date: 2015-12-22

Variant appearance in text: rs2000999
PubMed Link: 26690388
Variant Present in the following documents:
  • Main text
  • ncomms10206-s1.pdf
  • ncomms10206.pdf
View BVdb publication page



Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

Nature Communications
van Leeuwen, Elisabeth M EM; Karssen, Lennart C LC; Deelen, Joris J; Isaacs, Aaron A; Medina-Gomez, Carolina C; Mbarek, Hamdi H; Kanterakis, Alexandros A; Trompet, Stella S; Postmus, Iris I; Verweij, Niek N; van Enckevort, David J DJ; Huffman, Jennifer E JE; White, Charles C CC; Feitosa, Mary F MF; Bartz, Traci M TM; Manichaikul, Ani A; Joshi, Peter K PK; Peloso, Gina M GM; Deelen, Patrick P; van Dijk, Freerk F; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda W J H BW; Francioli, Laurent C LC; Menelaou, Androniki A; Pulit, Sara L SL; Rivadeneira, Fernando F; Hofman, Albert A; Oostra, Ben A BA; Franco, Oscar H OH; Mateo Leach, Irene I; Beekman, Marian M; de Craen, Anton J M AJ; Uh, Hae-Won HW; Trochet, Holly H; Hocking, Lynne J LJ; Porteous, David J DJ; Sattar, Naveed N; Packard, Chris J CJ; Buckley, Brendan M BM; Brody, Jennifer A JA; Bis, Joshua C JC; Rotter, Jerome I JI; Mychaleckyj, Josyf C JC; Campbell, Harry H; Duan, Qing Q; Lange, Leslie A LA; Wilson, James F JF; Hayward, Caroline C; Polasek, Ozren O; Vitart, Veronique V; Rudan, Igor I; Wright, Alan F AF; Rich, Stephen S SS; Psaty, Bruce M BM; Borecki, Ingrid B IB; Kearney, Patricia M PM; Stott, David J DJ; Adrienne Cupples, L L; , ; Jukema, J Wouter JW; van der Harst, Pim P; Sijbrands, Eric J EJ; Hottenga, Jouke-Jan JJ; Uitterlinden, Andre G AG; Swertz, Morris A MA; van Ommen, Gert-Jan B GJ; de Bakker, Paul I W PI; Eline Slagboom, P P; Boomsma, Dorret I DI; Wijmenga, Cisca C; van Duijn, Cornelia M CM
Publication Date: 2015-03-09

Variant appearance in text: rs2000999
PubMed Link: 25751400
Variant Present in the following documents:
  • ncomms7065-s1.pdf
View BVdb publication page



Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs2000999
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
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Using multivariable Mendelian randomization to disentangle the causal effects of lipid fractions.

Plos One
Burgess, Stephen S; Freitag, Daniel F DF; Khan, Hassan H; Gorman, Donal N DN; Thompson, Simon G SG
Publication Date: 2014

Variant appearance in text: rs2000999
PubMed Link: 25302496
Variant Present in the following documents:
  • Main text
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Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study.

Plos Genetics
Varga, Tibor V TV; Sonestedt, Emily E; Shungin, Dmitry D; Koivula, Robert W RW; Hallmans, Göran G; Escher, Stefan A SA; Barroso, Inês I; Nilsson, Peter P; Melander, Olle O; Orho-Melander, Marju M; Renström, Frida F; Franks, Paul W PW
Publication Date: 2014-06

Variant appearance in text: rs2000999
PubMed Link: 24922540
Variant Present in the following documents:
  • Main text
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Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs2000999
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
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A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer.

Plos One
Campa, Daniele D; Barrdahl, Myrto M; Tsilidis, Konstantinos K KK; Severi, Gianluca G; Diver, W Ryan WR; Siddiq, Afshan A; Chanock, Stephen S; Hoover, Robert N RN; Ziegler, Regina G RG; Berg, Christine D CD; Buys, Saundra S SS; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick R FR; Le Marchand, Loïc L; Flesch-Janys, Dieter D; Lindström, Sara S; Hunter, David J DJ; Hankinson, Susan E SE; Willett, Walter C WC; Kraft, Peter P; Cox, David G DG; Khaw, Kay-Tee KT; Tjønneland, Anne A; Dossus, Laure L; Trichopoulos, Dimitrios D; Panico, Salvatore S; van Gils, Carla H CH; Weiderpass, Elisabete E; Barricarte, Aurelio A; Sund, Malin M; Gaudet, Mia M MM; Giles, Graham G; Southey, Melissa M; Baglietto, Laura L; Chang-Claude, Jenny J; Kaaks, Rudolf R; Canzian, Federico F
Publication Date: 2014

Variant appearance in text: rs2000999
PubMed Link: 24523857
Variant Present in the following documents:
  • Main text
  • pone.0085955.pdf
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Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants.

The Application Of Clinical Genetics
Sayols-Baixeras, Sergi S; Lluís-Ganella, Carla C; Lucas, Gavin G; Elosua, Roberto R
Publication Date: 2014

Variant appearance in text: rs2000999
PubMed Link: 24520200
Variant Present in the following documents:
  • Main text
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Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

Plos One
Wood, Andrew R AR; Perry, John R B JR; Tanaka, Toshiko T; Hernandez, Dena G DG; Zheng, Hou-Feng HF; Melzer, David D; Gibbs, J Raphael JR; Nalls, Michael A MA; Weedon, Michael N MN; Spector, Tim D TD; Richards, J Brent JB; Bandinelli, Stefania S; Ferrucci, Luigi L; Singleton, Andrew B AB; Frayling, Timothy M TM
Publication Date: 2013

Variant appearance in text: rs2000999
PubMed Link: 23696881
Variant Present in the following documents:
  • Main text
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Genetic analysis of haptoglobin polymorphisms with cardiovascular disease and type 2 diabetes in the Diabetes Heart Study.

Cardiovascular Diabetology
Adams, Jeremy N JN; Cox, Amanda J AJ; Freedman, Barry I BI; Langefeld, Carl D CD; Carr, J Jeffrey JJ; Bowden, Donald W DW
Publication Date: 2013-02-11

Variant appearance in text: rs2000999
PubMed Link: 23399657
Variant Present in the following documents:
  • Main text
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Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.

Plos One
Lucas, Gavin G; Lluís-Ganella, Carla C; Subirana, Isaac I; Musameh, Muntaser D MD; Gonzalez, Juan Ramon JR; Nelson, Christopher P CP; Sentí, Mariano M; , ; , ; Schwartz, Stephen M SM; Siscovick, David D; O'Donnell, Christopher J CJ; Melander, Olle O; Salomaa, Veikko V; Purcell, Shaun S; Altshuler, David D; Samani, Nilesh J NJ; Kathiresan, Sekar S; Elosua, Roberto R
Publication Date: 2012

Variant appearance in text: rs2000999
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.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: rs2000999
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
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Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol.

Gene
Guthrie, Philip A I PA; Rodriguez, Santiago S; Gaunt, Tom R TR; Lawlor, Debbie A DA; Smith, George Davey GD; Day, Ian N M IN
Publication Date: 2012-05-10

Variant appearance in text: rs2000999
PubMed Link: 22433445
Variant Present in the following documents:
  • Main text
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A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels.

Plos One
Froguel, Philippe P; Ndiaye, Ndeye Coumba NC; Bonnefond, Amélie A; Bouatia-Naji, Nabila N; Dechaume, Aurélie A; Siest, Gérard G; Herbeth, Bernard B; Falchi, Mario M; Bottolo, Leonardo L; Guéant-Rodriguez, Rosa-Maria RM; Lecoeur, Cécile C; Langlois, Michel R MR; Labrune, Yann Y; Ruokonen, Aimo A; El Shamieh, Said S; Stathopoulou, Maria G MG; Morandi, Anita A; Maffeis, Claudio C; Meyre, David D; Delanghe, Joris R JR; Jacobson, Peter P; Sjöström, Lars L; Carlsson, Lena M S LM; Walley, Andrew A; Elliott, Paul P; Jarvelin, Marjo-Riita MR; Dedoussis, George V GV; Visvikis-Siest, Sophie S
Publication Date: 2012

Variant appearance in text: rs2000999
PubMed Link: 22403646
Variant Present in the following documents:
  • Main text
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: rs2000999
PubMed Link: 21862702
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: rs2000999
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
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Biological, clinical and population relevance of 95 loci for blood lipids.

Nature
Teslovich, Tanya M TM; Musunuru, Kiran K; Smith, Albert V AV; Edmondson, Andrew C AC; Stylianou, Ioannis M IM; Koseki, Masahiro M; Pirruccello, James P JP; Ripatti, Samuli S; Chasman, Daniel I DI; Willer, Cristen J CJ; Johansen, Christopher T CT; Fouchier, Sigrid W SW; Isaacs, Aaron A; Peloso, Gina M GM; Barbalic, Maja M; Ricketts, Sally L SL; Bis, Joshua C JC; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; Feitosa, Mary F MF; Chambers, John J; Orho-Melander, Marju M; Melander, Olle O; Johnson, Toby T; Li, Xiaohui X; Guo, Xiuqing X; Li, Mingyao M; Shin Cho, Yoon Y; Jin Go, Min M; Jin Kim, Young Y; Lee, Jong-Young JY; Park, Taesung T; Kim, Kyunga K; Sim, Xueling X; Twee-Hee Ong, Rick R; Croteau-Chonka, Damien C DC; Lange, Leslie A LA; Smith, Joshua D JD; Song, Kijoung K; Hua Zhao, Jing J; Yuan, Xin X; Luan, Jian'an J; Lamina, Claudia C; Ziegler, Andreas A; Zhang, Weihua W; Zee, Robert Y L RY; Wright, Alan F AF; Witteman, Jacqueline C M JC; Wilson, James F JF; Willemsen, Gonneke G; Wichmann, H-Erich HE; Whitfield, John B JB; Waterworth, Dawn M DM; Wareham, Nicholas J NJ; Waeber, Gérard G; Vollenweider, Peter P; Voight, Benjamin F BF; Vitart, Veronique V; Uitterlinden, Andre G AG; Uda, Manuela M; Tuomilehto, Jaakko J; Thompson, John R JR; Tanaka, Toshiko T; Surakka, Ida I; Stringham, Heather M HM; Spector, Tim D TD; Soranzo, Nicole N; Smit, Johannes H JH; Sinisalo, Juha J; Silander, Kaisa K; Sijbrands, Eric J G EJ; Scuteri, Angelo A; Scott, James J; Schlessinger, David D; Sanna, Serena S; Salomaa, Veikko V; Saharinen, Juha J; Sabatti, Chiara C; Ruokonen, Aimo A; Rudan, Igor I; Rose, Lynda M LM; Roberts, Robert R; Rieder, Mark M; Psaty, Bruce M BM; Pramstaller, Peter P PP; Pichler, Irene I; Perola, Markus M; Penninx, Brenda W J H BW; Pedersen, Nancy L NL; Pattaro, Cristian C; Parker, Alex N AN; Pare, Guillaume G; Oostra, Ben A BA; O'Donnell, Christopher J CJ; Nieminen, Markku S MS; Nickerson, Deborah A DA; Montgomery, Grant W GW; Meitinger, Thomas T; McPherson, Ruth R; McCarthy, Mark I MI; McArdle, Wendy W; Masson, David D; Martin, Nicholas G NG; Marroni, Fabio F; Mangino, Massimo M; Magnusson, Patrik K E PK; Lucas, Gavin G; Luben, Robert R; Loos, Ruth J F RJ; Lokki, Marja-Liisa ML; Lettre, Guillaume G; Langenberg, Claudia C; Launer, Lenore J LJ; Lakatta, Edward G EG; Laaksonen, Reijo R; Kyvik, Kirsten O KO; Kronenberg, Florian F; König, Inke R IR; Khaw, Kay-Tee KT; Kaprio, Jaakko J; Kaplan, Lee M LM; Johansson, Asa A; Jarvelin, Marjo-Riitta MR; Janssens, A Cecile J W AC; Ingelsson, Erik E; Igl, Wilmar W; Kees Hovingh, G G; Hottenga, Jouke-Jan JJ; Hofman, Albert A; Hicks, Andrew A AA; Hengstenberg, Christian C; Heid, Iris M IM; Hayward, Caroline C; Havulinna, Aki S AS; Hastie, Nicholas D ND; Harris, Tamara B TB; Haritunians, Talin T; Hall, Alistair S AS; Gyllensten, Ulf U; Guiducci, Candace C; Groop, Leif C LC; Gonzalez, Elena E; Gieger, Christian C; Freimer, Nelson B NB; Ferrucci, Luigi L; Erdmann, Jeanette J; Elliott, Paul P; Ejebe, Kenechi G KG; Döring, Angela A; Dominiczak, Anna F AF; Demissie, Serkalem S; Deloukas, Panagiotis P; de Geus, Eco J C EJ; de Faire, Ulf U; Crawford, Gabriel G; Collins, Francis S FS; Chen, Yii-der I YD; Caulfield, Mark J MJ; Campbell, Harry H; Burtt, Noel P NP; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Boekholdt, S Matthijs SM; Bergman, Richard N RN; Barroso, Inês I; Bandinelli, Stefania S; Ballantyne, Christie M CM; Assimes, Themistocles L TL; Quertermous, Thomas T; Altshuler, David D; Seielstad, Mark M; Wong, Tien Y TY; Tai, E-Shyong ES; Feranil, Alan B AB; Kuzawa, Christopher W CW; Adair, Linda S LS; Taylor, Herman A HA; Borecki, Ingrid B IB; Gabriel, Stacey B SB; Wilson, James G JG; Holm, Hilma H; Thorsteinsdottir, Unnur U; Gudnason, Vilmundur V; Krauss, Ronald M RM; Mohlke, Karen L KL; Ordovas, Jose M JM; Munroe, Patricia B PB; Kooner, Jaspal S JS; Tall, Alan R AR; Hegele, Robert A RA; Kastelein, John J P JJ; Schadt, Eric E EE; Rotter, Jerome I JI; Boerwinkle, Eric E; Strachan, David P DP; Mooser, Vincent V; Stefansson, Kari K; Reilly, Muredach P MP; Samani, Nilesh J NJ; Schunkert, Heribert H; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Ridker, Paul M PM; Rader, Daniel J DJ; van Duijn, Cornelia M CM; Peltonen, Leena L; Abecasis, Gonçalo R GR; Boehnke, Michael M; Kathiresan, Sekar S
Publication Date: 2010-08-05

Variant appearance in text: rs2000999
PubMed Link: 20686565
Variant Present in the following documents:
  • NIHMS213289-supplement-1.pdf
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Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.

Plos Genetics
Igl, Wilmar W; Johansson, Asa A; Wilson, James F JF; Wild, Sarah H SH; Polasek, Ozren O; Hayward, Caroline C; Vitart, Veronique V; Hastie, Nicholas N; Rudan, Pavao P; Gnewuch, Carsten C; Schmitz, Gerd G; Meitinger, Thomas T; Pramstaller, Peter P PP; Hicks, Andrew A AA; Oostra, Ben A BA; van Duijn, Cornelia M CM; Rudan, Igor I; Wright, Alan A; Campbell, Harry H; Gyllensten, Ulf U; ,
Publication Date: 2010-01

Variant appearance in text: rs2000999
PubMed Link: 20066028
Variant Present in the following documents:
  • Main text
  • pgen.1000798.pdf
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