GALNT2 c.127-19048C>T

Variant ID: 1-230294916-C-T

NM_004481.3(GALNT2):c.127-19048C>T

This variant was identified in 42 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: rs2144300
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Maternal GALNT2 Variations Affect Blood Pressure, Atherogenic Index, and Fetal Growth, Depending on BMI in Gestational Diabetes Mellitus.

Frontiers In Endocrinology
Guan, Linbo L; Fan, Ping P; Liu, Xinghui X; Zhou, Mi M; Wu, Yujie Y; Liu, Rui R; Liu, Yu Y; Bai, Huai H
Publication Date: 2021

Variant appearance in text: rs2144300
PubMed Link: 34267728
Variant Present in the following documents:
  • Main text
  • fendo-12-690229.pdf
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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: rs2144300
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



PEREGRINE: A genome-wide prediction of enhancer to gene relationships supported by experimental evidence.

Plos One
Mills, Caitlin C; Muruganujan, Anushya A; Ebert, Dustin D; Marconett, Crystal N CN; Lewinger, Juan Pablo JP; Thomas, Paul D PD; Mi, Huaiyu H
Publication Date: 2020

Variant appearance in text: rs2144300
PubMed Link: 33320871
Variant Present in the following documents:
  • Main text
  • pone.0243791.pdf
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A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications
Gallois, Apolline A; Mefford, Joel J; Ko, Arthur A; Vaysse, Amaury A; Julienne, Hanna H; Ala-Korpela, Mika M; Laakso, Markku M; Zaitlen, Noah N; Pajukanta, Päivi P; Aschard, Hugues H
Publication Date: 2019-10-21

Variant appearance in text: rs2144300
PubMed Link: 31636271
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12703.pdf
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Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
Howard, Alicia D AD; Wang, Xiaochun X; Prasad, Megana M; Sahu, Avinash Das AD; Aniba, Radhouane R; Miller, Michael M; Hannenhalli, Sridhar S; Chang, Yen-Pei Christy YC
Publication Date: 2019

Variant appearance in text: rs2144300
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
  • pone.0215911.pdf
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Genetic polymorphisms of melatonin receptors 1A and 1B may result in disordered lipid metabolism in obese patients with polycystic ovary syndrome.

Molecular Medicine Reports
Xu, Xiu-Hua XH; Kou, Lian-Cui LC; Wang, Hai-Mei HM; Bo, Chun-Mei CM; Song, Xiao-Cui XC
Publication Date: 2019-03

Variant appearance in text: rs2144300
PubMed Link: 30664204
Variant Present in the following documents:
  • Main text
  • mmr-19-03-2220.pdf
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Genetic variants influencing elevated myeloperoxidase levels increase risk of stroke.

Brain : A Journal Of Neurology
Phuah, Chia-Ling CL; Dave, Tushar T; Malik, Rainer R; Raffeld, Miriam R MR; Ayres, Alison M AM; Goldstein, Joshua N JN; Viswanathan, Anand A; Greenberg, Steven M SM; Jagiella, Jeremiasz M JM; Hansen, Björn M BM; Norrving, Bo B; Jimenez-Conde, Jordi J; Roquer, Jaume J; Pichler, Alexander A; Enzinger, Christian C; Montaner, Joan J; Fernandez-Cadenas, Israel I; Lindgren, Arne A; Slowik, Agnieszka A; Schmidt, Reinhold R; Biffi, Alessandro A; Rost, Natalia N; Langefeld, Carl D CD; Markus, Hugh S HS; Mitchell, Braxton D BD; Worrall, Brad B BB; Kittner, Steven J SJ; Woo, Daniel D; Dichgans, Martin M; Rosand, Jonathan J; Anderson, Christopher D CD; , ; , ; ,
Publication Date: 2017-10-01

Variant appearance in text: rs2144300
PubMed Link: 28969386
Variant Present in the following documents:
  • Main text
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Data to genetic risk assessment on high-density cholesterol level associated polymorphisms in Hungarian general and Roma populations.

Data In Brief
Pikó, Péter P; Fiatal, Szilvia S; Kósa, Zsigmond Z; Sándor, János J; Ádány, Róza R
Publication Date: 2017-10

Variant appearance in text: rs2144300
PubMed Link: 28795114
Variant Present in the following documents:
  • Main text
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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs2144300
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.pdf
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Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels.

Lipids In Health And Disease
Cavalli, Marco M; Pan, Gang G; Nord, Helena H; Wadelius, Claes C
Publication Date: 2016-01-27

Variant appearance in text: rs2144300
PubMed Link: 26817450
Variant Present in the following documents:
  • Main text
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Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.

Scientific Reports
Guo, Tao T; Yin, Rui-Xing RX; Huang, Feng F; Yao, Li-Mei LM; Lin, Wei-Xiong WX; Pan, Shang-Ling SL
Publication Date: 2016-01-08

Variant appearance in text: rs2144300
PubMed Link: 26744084
Variant Present in the following documents:
  • Main text
  • srep19079.pdf
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Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol.

American Journal Of Human Genetics
Roman, Tamara S TS; Marvelle, Amanda F AF; Fogarty, Marie P MP; Vadlamudi, Swarooparani S; Gonzalez, Arlene J AJ; Buchkovich, Martin L ML; Huyghe, Jeroen R JR; Fuchsberger, Christian C; Jackson, Anne U AU; Wu, Ying Y; Civelek, Mete M; Lusis, Aldons J AJ; Gaulton, Kyle J KJ; Sethupathy, Praveen P; Kangas, Antti J AJ; Soininen, Pasi P; Ala-Korpela, Mika M; Kuusisto, Johanna J; Collins, Francis S FS; Laakso, Markku M; Boehnke, Michael M; Mohlke, Karen L KL
Publication Date: 2015-12-03

Variant appearance in text: rs2144300
PubMed Link: 26637976
Variant Present in the following documents:
  • Main text
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The reduction of vascular disease risk mutations contributes to longevity in the Chinese population.

Meta Gene
He, Yong-Han YH; Lu, Xiang X; Bi, Ming-Xin MX; Yang, Li-Qin LQ; Xu, Liang-You LY; Kong, Qing-Peng QP
Publication Date: 2014-12

Variant appearance in text: rs2144300
PubMed Link: 25606459
Variant Present in the following documents:
  • Main text
  • main.pdf
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Evaluation of association between common genetic variants on chromosome 9p21 and coronary artery disease in Turkish population.

Anatolian Journal Of Cardiology
Çakmak, Hüseyin Altuğ HA; Bayoğlu, Burcu B; Durmaz, Eser E; Can, Günay G; Karadağ, Bilgehan B; Cengiz, Müjgan M; Vural, Vural Ali VA; Yüksel, Hüsniye H
Publication Date: 2015-03

Variant appearance in text: rs2144300
PubMed Link: 25333979
Variant Present in the following documents:
  • Main text
  • AJC-15-196.pdf
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Strategies to fine-map genetic associations with lipid levels by combining epigenomic annotations and liver-specific transcription profiles.

Genomics
Lo, Ken Sin KS; Vadlamudi, Swarooparani S; Fogarty, Marie P MP; Mohlke, Karen L KL; Lettre, Guillaume G
Publication Date: 2014-08

Variant appearance in text: rs2144300
PubMed Link: 24997396
Variant Present in the following documents:
  • Main text
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Atenolol induced HDL-C change in the pharmacogenomic evaluation of antihypertensive responses (PEAR) study.

Plos One
McDonough, Caitrin W CW; Gillis, Nancy K NK; Alsultan, Abdullah A; Chang, Shin-Wen SW; Kawaguchi-Suzuki, Marina M; Lang, Jason E JE; Shahin, Mohamed Hossam A MH; Buford, Thomas W TW; El Rouby, Nihal M NM; Sá, Ana C C AC; Langaee, Taimour Y TY; Gums, John G JG; Chapman, Arlene B AB; Cooper-DeHoff, Rhonda M RM; Turner, Stephen T ST; Gong, Yan Y; Johnson, Julie A JA
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 24116192
Variant Present in the following documents:
  • Main text
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A multiethnic replication study of plasma lipoprotein levels-associated SNPs identified in recent GWAS.

Plos One
Bryant, Emily K EK; Dressen, Amy S AS; Bunker, Clareann H CH; Hokanson, John E JE; Hamman, Richard F RF; Kamboh, M Ilyas MI; Demirci, F Yesim FY
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 23717430
Variant Present in the following documents:
  • Main text
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Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Bmc Genetics
Taylor, Kira C KC; Carty, Cara L CL; Dumitrescu, Logan L; Bůžková, Petra P; Cole, Shelley A SA; Hindorff, Lucia L; Schumacher, Fred R FR; Wilkens, Lynne R LR; Shohet, Ralph V RV; Quibrera, P Miguel PM; Johnson, Karen C KC; Henderson, Brian E BE; Haessler, Jeff J; Franceschini, Nora N; Eaton, Charles B CB; Duggan, David J DJ; Cochran, Barbara B; Cheng, Iona I; Carlson, Chris S CS; Brown-Gentry, Kristin K; Anderson, Garnet G; Ambite, Jose Luis JL; Haiman, Christopher C; Le Marchand, Loïc L; Kooperberg, Charles C; Crawford, Dana C DC; Buyske, Steven S; North, Kari E KE; Fornage, Myriam M; ,
Publication Date: 2013-05-01

Variant appearance in text: rs2144300
PubMed Link: 23634756
Variant Present in the following documents:
  • Main text
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Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.

Human Molecular Genetics
Reiner, Alexander P AP; Hartiala, Jaana J; Zeller, Tanja T; Bis, Joshua C JC; Dupuis, Josée J; Fornage, Myriam M; Baumert, Jens J; Kleber, Marcus E ME; Wild, Philipp S PS; Baldus, Stephan S; Bielinski, Suzette J SJ; Fontes, João D JD; Illig, Thomas T; Keating, Brendan J BJ; Lange, Leslie A LA; Ojeda, Francisco F; Müller-Nurasyid, Martina M; Munzel, Thomas F TF; Psaty, Bruce M BM; Rice, Kenneth K; Rotter, Jerome I JI; Schnabel, Renate B RB; Tang, W H Wilson WH; Thorand, Barbara B; Erdmann, Jeanette J; , ; Jacobs, David R DR; Wilson, James G JG; Koenig, Wolfgang W; Tracy, Russell P RP; Blankenberg, Stefan S; März, Winfried W; Gross, Myron D MD; Benjamin, Emelia J EJ; Hazen, Stanley L SL; Allayee, Hooman H
Publication Date: 2013-08-15

Variant appearance in text: rs2144300
PubMed Link: 23620142
Variant Present in the following documents:
  • Main text
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Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four US populations: the Population Architecture using Genomics and Epidemiology (PAGE) study.

Atherosclerosis
Zhang, Lili L; Buzkova, Petra P; Wassel, Christina L CL; Roman, Mary J MJ; North, Kari E KE; Crawford, Dana C DC; Boston, Jonathan J; Brown-Gentry, Kristin D KD; Cole, Shelley A SA; Deelman, Ewa E; Goodloe, Robert R; Wilson, Sarah S; Heiss, Gerardo G; Jenny, Nancy S NS; Jorgensen, Neal W NW; Matise, Tara C TC; McClellan, Bob E BE; Nato, Alejandro Q AQ; Ritchie, Marylyn D MD; Franceschini, Nora N; Kao, W H Linda WH
Publication Date: 2013-06

Variant appearance in text: rs2144300
PubMed Link: 23587283
Variant Present in the following documents:
  • Main text
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Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
McKay, Gareth J GJ; Savage, David A DA; Patterson, Christopher C CC; Lewis, Gareth G; McKnight, Amy Jayne AJ; Maxwell, Alexander P AP; ,
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 23555584
Variant Present in the following documents:
  • Main text
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Association of functional polymorphism rs2231142 (Q141K) in the ABCG2 gene with serum uric acid and gout in 4 US populations: the PAGE Study.

American Journal Of Epidemiology
Zhang, Lili L; Spencer, Kylee L KL; Voruganti, V Saroja VS; Jorgensen, Neal W NW; Fornage, Myriam M; Best, Lyle G LG; Brown-Gentry, Kristin D KD; Cole, Shelley A SA; Crawford, Dana C DC; Deelman, Ewa E; Franceschini, Nora N; Gaffo, Angelo L AL; Glenn, Kimberly R KR; Heiss, Gerardo G; Jenny, Nancy S NS; Kottgen, Anna A; Li, Qiong Q; Liu, Kiang K; Matise, Tara C TC; North, Kari E KE; Umans, Jason G JG; Kao, W H Linda WH
Publication Date: 2013-05-01

Variant appearance in text: rs2144300
PubMed Link: 23552988
Variant Present in the following documents:
  • Main text
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Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

Plos Genetics
Pendergrass, Sarah A SA; Brown-Gentry, Kristin K; Dudek, Scott S; Frase, Alex A; Torstenson, Eric S ES; Goodloe, Robert R; Ambite, Jose Luis JL; Avery, Christy L CL; Buyske, Steve S; Bůžková, Petra P; Deelman, Ewa E; Fesinmeyer, Megan D MD; Haiman, Christopher A CA; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsu, Chu-Nan CN; Jackson, Rebecca D RD; Kooperberg, Charles C; Le Marchand, Loic L; Lin, Yi Y; Matise, Tara C TC; Monroe, Kristine R KR; Moreland, Larry L; Park, Sungshim L SL; Reiner, Alex A; Wallace, Robert R; Wilkens, Lynn R LR; Crawford, Dana C DC; Ritchie, Marylyn D MD
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 23382687
Variant Present in the following documents:
  • Main text
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Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2012-10-05

Variant appearance in text: rs2144300
PubMed Link: 23036011
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-94-S1.pdf
  • 1471-2350-13-94.pdf
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Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities.

Lipids In Health And Disease
Li, Qing Q; Wei, Xian-Liang XL; Yin, Rui-Xing RX
Publication Date: 2012-05-01

Variant appearance in text: rs2144300
PubMed Link: 22548731
Variant Present in the following documents:
  • Main text
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Association of the GALNT2 gene polymorphisms and several environmental factors with serum lipid levels in the Mulao and Han populations.

Lipids In Health And Disease
Li, Qing Q; Yin, Rui-Xing RX; Yan, Ting-Ting TT; Miao, Lin L; Cao, Xiao-Li XL; Hu, Xi-Jiang XJ; Aung, Lynn Htet Htet LH; Wu, Dong-Feng DF; Wu, Jin-Zhen JZ; Lin, Wei-Xiong WX
Publication Date: 2011-09-20

Variant appearance in text: rs2144300
PubMed Link: 21933382
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: rs2144300
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
Windemuth, Andreas A; de Leon, Jose J; Goethe, John W JW; Schwartz, Harold I HI; Woolley, Stephen S; Susce, Margaret M; Kocherla, Mohan M; Bogaard, Kali K; Holford, Theodore R TR; Seip, Richard L RL; Ruaño, Gualberto G
Publication Date: 2012-03-30

Variant appearance in text: rs2144300
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
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Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
Dumitrescu, Logan L; Carty, Cara L CL; Taylor, Kira K; Schumacher, Fredrick R FR; Hindorff, Lucia A LA; Ambite, José L JL; Anderson, Garnet G; Best, Lyle G LG; Brown-Gentry, Kristin K; Bůžková, Petra P; Carlson, Christopher S CS; Cochran, Barbara B; Cole, Shelley A SA; Devereux, Richard B RB; Duggan, Dave D; Eaton, Charles B CB; Fornage, Myriam M; Franceschini, Nora N; Haessler, Jeff J; Howard, Barbara V BV; Johnson, Karen C KC; Laston, Sandra S; Kolonel, Laurence N LN; Lee, Elisa T ET; MacCluer, Jean W JW; Manolio, Teri A TA; Pendergrass, Sarah A SA; Quibrera, Miguel M; Shohet, Ralph V RV; Wilkens, Lynne R LR; Haiman, Christopher A CA; Le Marchand, Loïc L; Buyske, Steven S; Kooperberg, Charles C; North, Kari E KE; Crawford, Dana C DC
Publication Date: 2011-06

Variant appearance in text: rs2144300
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.pdf
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Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics
Lettre, Guillaume G; Palmer, Cameron D CD; Young, Taylor T; Ejebe, Kenechi G KG; Allayee, Hooman H; Benjamin, Emelia J EJ; Bennett, Franklyn F; Bowden, Donald W DW; Chakravarti, Aravinda A; Dreisbach, Al A; Farlow, Deborah N DN; Folsom, Aaron R AR; Fornage, Myriam M; Forrester, Terrence T; Fox, Ervin E; Haiman, Christopher A CA; Hartiala, Jaana J; Harris, Tamara B TB; Hazen, Stanley L SL; Heckbert, Susan R SR; Henderson, Brian E BE; Hirschhorn, Joel N JN; Keating, Brendan J BJ; Kritchevsky, Stephen B SB; Larkin, Emma E; Li, Mingyao M; Rudock, Megan E ME; McKenzie, Colin A CA; Meigs, James B JB; Meng, Yang A YA; Mosley, Tom H TH; Newman, Anne B AB; Newton-Cheh, Christopher H CH; Paltoo, Dina N DN; Papanicolaou, George J GJ; Patterson, Nick N; Post, Wendy S WS; Psaty, Bruce M BM; Qasim, Atif N AN; Qu, Liming L; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Liu, Yongmei Y; Shrader, Peter P; Siscovick, David S DS; Tang, W H Wilson WH; Taylor, Herman A HA; Tracy, Russell P RP; Vasan, Ramachandran S RS; Waters, Kevin M KM; Wilks, Rainford R; Wilson, James G JG; Fabsitz, Richard R RR; Gabriel, Stacey B SB; Kathiresan, Sekar S; Boerwinkle, Eric E
Publication Date: 2011-02-10

Variant appearance in text: rs2144300
PubMed Link: 21347282
Variant Present in the following documents:
  • Main text
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Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Circulation. Cardiovascular Genetics
Edmondson, Andrew C AC; Braund, Peter S PS; Stylianou, Ioannis M IM; Khera, Amit V AV; Nelson, Christopher P CP; Wolfe, Megan L ML; Derohannessian, Stephanie L SL; Keating, Brendan J BJ; Qu, Liming L; He, Jing J; Tobin, Martin D MD; Tomaszewski, Maciej M; Baumert, Jens J; Klopp, Norman N; Döring, Angela A; Thorand, Barbara B; Li, Mingyao M; Reilly, Muredach P MP; Koenig, Wolfgang W; Samani, Nilesh J NJ; Rader, Daniel J DJ
Publication Date: 2011-04

Variant appearance in text: rs2144300
PubMed Link: 21303902
Variant Present in the following documents:
  • Main text
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Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.

Diabetologia
Fontaine-Bisson, B B; Renström, F F; Rolandsson, O O; , ; Payne, F F; Hallmans, G G; Barroso, I I; Franks, P W PW
Publication Date: 2010-10

Variant appearance in text: rs2144300
PubMed Link: 20571754
Variant Present in the following documents:
  • 125_2010_Article_1792.pdf
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Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research
Weissglas-Volkov, Daphna D; Pajukanta, Päivi P
Publication Date: 2010-08

Variant appearance in text: rs2144300
PubMed Link: 20421590
Variant Present in the following documents:
  • Main text
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The genetics of obesity and the metabolic syndrome.

Endocrine, Metabolic & Immune Disorders Drug Targets
Monda, Keri L KL; North, Kari E KE; Hunt, Steven C SC; Rao, D C DC; Province, Michael A MA; Kraja, Aldi T AT
Publication Date: 2010-06

Variant appearance in text: rs2144300
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
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Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.

Nucleic Acids Research
Wallerman, Ola O; Motallebipour, Mehdi M; Enroth, Stefan S; Patra, Kalicharan K; Bysani, Madhu Sudhan Reddy MS; Komorowski, Jan J; Wadelius, Claes C
Publication Date: 2009-12

Variant appearance in text: rs2144300
PubMed Link: 19822575
Variant Present in the following documents:
  • Main text
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Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.

European Heart Journal
Murray, Anna A; Cluett, Christie C; Bandinelli, Stefania S; Corsi, Anna Maria AM; Ferrucci, Luigi L; Guralnik, Jack J; Singleton, Andrew A; Frayling, Timothy T; Melzer, David D
Publication Date: 2009-07

Variant appearance in text: rs2144300
PubMed Link: 19435741
Variant Present in the following documents:
  • Main text
  • ehp161.pdf
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Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.

American Journal Of Human Genetics
Ferrucci, Luigi L; Perry, John R B JR; Matteini, Amy A; Perola, Markus M; Tanaka, Toshiko T; Silander, Kaisa K; Rice, Neil N; Melzer, David D; Murray, Anna A; Cluett, Christie C; Fried, Linda P LP; Albanes, Demetrius D; Corsi, Anna-Maria AM; Cherubini, Antonio A; Guralnik, Jack J; Bandinelli, Stefania S; Singleton, Andrew A; Virtamo, Jarmo J; Walston, Jeremy J; Semba, Richard D RD; Frayling, Timothy M TM
Publication Date: 2009-02

Variant appearance in text: rs2144300
PubMed Link: 19185284
Variant Present in the following documents:
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Nature Genetics
Aulchenko, Yurii S YS; Ripatti, Samuli S; Lindqvist, Ida I; Boomsma, Dorret D; Heid, Iris M IM; Pramstaller, Peter P PP; Penninx, Brenda W J H BW; Janssens, A Cecile J W AC; Wilson, James F JF; Spector, Tim T; Martin, Nicholas G NG; Pedersen, Nancy L NL; Kyvik, Kirsten Ohm KO; Kaprio, Jaakko J; Hofman, Albert A; Freimer, Nelson B NB; Jarvelin, Marjo-Riitta MR; Gyllensten, Ulf U; Campbell, Harry H; Rudan, Igor I; Johansson, Asa A; Marroni, Fabio F; Hayward, Caroline C; Vitart, Veronique V; Jonasson, Inger I; Pattaro, Cristian C; Wright, Alan A; Hastie, Nick N; Pichler, Irene I; Hicks, Andrew A AA; Falchi, Mario M; Willemsen, Gonneke G; Hottenga, Jouke-Jan JJ; de Geus, Eco J C EJ; Montgomery, Grant W GW; Whitfield, John J; Magnusson, Patrik P; Saharinen, Juha J; Perola, Markus M; Silander, Kaisa K; Isaacs, Aaron A; Sijbrands, Eric J G EJ; Uitterlinden, Andre G AG; Witteman, Jacqueline C M JC; Oostra, Ben A BA; Elliott, Paul P; Ruokonen, Aimo A; Sabatti, Chiara C; Gieger, Christian C; Meitinger, Thomas T; Kronenberg, Florian F; Döring, Angela A; Wichmann, H-Erich HE; Smit, Johannes H JH; McCarthy, Mark I MI; van Duijn, Cornelia M CM; Peltonen, Leena L; ,
Publication Date: 2009-01

Variant appearance in text: rs2144300
PubMed Link: 19060911
Variant Present in the following documents:
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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F
Publication Date: 2009-03

Variant appearance in text: rs2144300
PubMed Link: 19041386
Variant Present in the following documents:
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Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Human Molecular Genetics
Mohlke, Karen L KL; Boehnke, Michael M; Abecasis, Gonçalo R GR
Publication Date: 2008-10-15

Variant appearance in text: rs2144300
PubMed Link: 18852197
Variant Present in the following documents:
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Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Nature Genetics
Willer, Cristen J CJ; Sanna, Serena S; Jackson, Anne U AU; Scuteri, Angelo A; Bonnycastle, Lori L LL; Clarke, Robert R; Heath, Simon C SC; Timpson, Nicholas J NJ; Najjar, Samer S SS; Stringham, Heather M HM; Strait, James J; Duren, William L WL; Maschio, Andrea A; Busonero, Fabio F; Mulas, Antonella A; Albai, Giuseppe G; Swift, Amy J AJ; Morken, Mario A MA; Narisu, Narisu N; Bennett, Derrick D; Parish, Sarah S; Shen, Haiqing H; Galan, Pilar P; Meneton, Pierre P; Hercberg, Serge S; Zelenika, Diana D; Chen, Wei-Min WM; Li, Yun Y; Scott, Laura J LJ; Scheet, Paul A PA; Sundvall, Jouko J; Watanabe, Richard M RM; Nagaraja, Ramaiah R; Ebrahim, Shah S; Lawlor, Debbie A DA; Ben-Shlomo, Yoav Y; Davey-Smith, George G; Shuldiner, Alan R AR; Collins, Rory R; Bergman, Richard N RN; Uda, Manuela M; Tuomilehto, Jaakko J; Cao, Antonio A; Collins, Francis S FS; Lakatta, Edward E; Lathrop, G Mark GM; Boehnke, Michael M; Schlessinger, David D; Mohlke, Karen L KL; Abecasis, Gonçalo R GR
Publication Date: 2008-02

Variant appearance in text: rs2144300
PubMed Link: 18193043
Variant Present in the following documents:
  • Main text
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