ABCG8 c.322+550G>A

Variant ID: 2-44074000-G-A

NM_022437.2(ABCG8):c.322+550G>A

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs4953023
PubMed Link: 32307928
Variant Present in the following documents:
  • Main text
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An update on the pathogenesis of cholesterol gallstone disease.

Current Opinion In Gastroenterology
Di Ciaula, Agostino A; Wang, David Q-H DQ; Portincasa, Piero P
Publication Date: 2018-03

Variant appearance in text: rs4953023
PubMed Link: 29283909
Variant Present in the following documents:
  • Main text
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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs4953023
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
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Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg
Rodriguez, Santiago S; Gaunt, Tom R TR; Guo, Yiran Y; Zheng, Jie J; Barnes, Michael R MR; Tang, Weihang W; Danish, Fazal F; Johnson, Andrew A; Castillo, Berta A BA; Li, Yun R YR; Hakonarson, Hakon H; Buxbaum, Sarah G SG; Palmer, Tom T; Tsai, Michael Y MY; Lange, Leslie A LA; Ebrahim, Shah S; Davey Smith, George G; Lawlor, Debbie A DA; Folsom, Aaron R AR; Hoogeveen, Ron R; Reiner, Alex A; Keating, Brendan B; Day, Ian N M IN
Publication Date: 2016-01

Variant appearance in text: rs4953023
PubMed Link: 25920552
Variant Present in the following documents:
  • Main text
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Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics
Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB
Publication Date: 2014-01

Variant appearance in text: rs4953023
PubMed Link: 24497850
Variant Present in the following documents:
  • Main text
  • pgen.1004147.pdf
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Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
Asselbergs, Folkert W FW; Guo, Yiran Y; van Iperen, Erik P A EP; Sivapalaratnam, Suthesh S; Tragante, Vinicius V; Lanktree, Matthew B MB; Lange, Leslie A LA; Almoguera, Berta B; Appelman, Yolande E YE; Barnard, John J; Baumert, Jens J; Beitelshees, Amber L AL; Bhangale, Tushar R TR; Chen, Yii-Der Ida YD; Gaunt, Tom R TR; Gong, Yan Y; Hopewell, Jemma C JC; Johnson, Toby T; Kleber, Marcus E ME; Langaee, Taimour Y TY; Li, Mingyao M; Li, Yun R YR; Liu, Kiang K; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Middelberg, Rita P S RP; Musunuru, Kiran K; Nelson, Christopher P CP; O'Connell, Jeffery R JR; Padmanabhan, Sandosh S; Pankow, James S JS; Pankratz, Nathan N; Rafelt, Suzanne S; Rajagopalan, Ramakrishnan R; Romaine, Simon P R SP; Schork, Nicholas J NJ; Shaffer, Jonathan J; Shen, Haiqing H; Smith, Erin N EN; Tischfield, Sam E SE; van der Most, Peter J PJ; van Vliet-Ostaptchouk, Jana V JV; Verweij, Niek N; Volcik, Kelly A KA; Zhang, Li L; Bailey, Kent R KR; Bailey, Kristian M KM; Bauer, Florianne F; Boer, Jolanda M A JM; Braund, Peter S PS; Burt, Amber A; Burton, Paul R PR; Buxbaum, Sarah G SG; Chen, Wei W; Cooper-Dehoff, Rhonda M RM; Cupples, L Adrienne LA; deJong, Jonas S JS; Delles, Christian C; Duggan, David D; Fornage, Myriam M; Furlong, Clement E CE; Glazer, Nicole N; Gums, John G JG; Hastie, Claire C; Holmes, Michael V MV; Illig, Thomas T; Kirkland, Susan A SA; Kivimaki, Mika M; Klein, Ronald R; Klein, Barbara E BE; Kooperberg, Charles C; Kottke-Marchant, Kandice K; Kumari, Meena M; LaCroix, Andrea Z AZ; Mallela, Laya L; Murugesan, Gurunathan G; Ordovas, Jose J; Ouwehand, Willem H WH; Post, Wendy S WS; Saxena, Richa R; Scharnagl, Hubert H; Schreiner, Pamela J PJ; Shah, Tina T; Shields, Denis C DC; Shimbo, Daichi D; Srinivasan, Sathanur R SR; Stolk, Ronald P RP; Swerdlow, Daniel I DI; Taylor, Herman A HA; Topol, Eric J EJ; Toskala, Elina E; van Pelt, Joost L JL; van Setten, Jessica J; Yusuf, Salim S; Whittaker, John C JC; Zwinderman, A H AH; , ; Anand, Sonia S SS; Balmforth, Anthony J AJ; Berenson, Gerald S GS; Bezzina, Connie R CR; Boehm, Bernhard O BO; Boerwinkle, Eric E; Casas, Juan P JP; Caulfield, Mark J MJ; Clarke, Robert R; Connell, John M JM; Cruickshanks, Karen J KJ; Davidson, Karina W KW; Day, Ian N M IN; de Bakker, Paul I W PI; Doevendans, Pieter A PA; Dominiczak, Anna F AF; Hall, Alistair S AS; Hartman, Catharina A CA; Hengstenberg, Christian C; Hillege, Hans L HL; Hofker, Marten H MH; Humphries, Steve E SE; Jarvik, Gail P GP; Johnson, Julie A JA; Kaess, Bernhard M BM; Kathiresan, Sekar S; Koenig, Wolfgang W; Lawlor, Debbie A DA; März, Winfried W; Melander, Olle O; Mitchell, Braxton D BD; Montgomery, Grant W GW; Munroe, Patricia B PB; Murray, Sarah S SS; Newhouse, Stephen J SJ; Onland-Moret, N Charlotte NC; Poulter, Neil N; Psaty, Bruce B; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Schunkert, Heribert H; Sever, Peter P; Shuldiner, Alan R AR; Silverstein, Roy L RL; Stanton, Alice A; Thorand, Barbara B; Trip, Mieke D MD; Tsai, Michael Y MY; van der Harst, Pim P; van der Schoot, Ellen E; van der Schouw, Yvonne T YT; Verschuren, W M Monique WM; Watkins, Hugh H; Wilde, Arthur A M AA; Wolffenbuttel, Bruce H R BH; Whitfield, John B JB; Hovingh, G Kees GK; Ballantyne, Christie M CM; Wijmenga, Cisca C; Reilly, Muredach P MP; Martin, Nicholas G NG; Wilson, James G JG; Rader, Daniel J DJ; Samani, Nilesh J NJ; Reiner, Alex P AP; Hegele, Robert A RA; Kastelein, John J P JJ; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Hakonarson, Hakon H; Elbers, Clara C CC; Keating, Brendan J BJ; Drenos, Fotios F
Publication Date: 2012-11-02

Variant appearance in text: rs4953023
PubMed Link: 23063622
Variant Present in the following documents:
  • Main text
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ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels.

Plos One
Li, Qing Q; Yin, Rui-Xing RX; Wei, Xian-Liang XL; Yan, Ting-Ting TT; Aung, Lynn Htet Htet LH; Wu, Dong-Feng DF; Wu, Jin-Zhen JZ; Lin, Wei-Xiong WX; Liu, Cheng-Wu CW; Pan, Shang-Ling SL
Publication Date: 2012

Variant appearance in text: rs4953023
PubMed Link: 22655090
Variant Present in the following documents:
  • Main text
  • pone.0037972.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: rs4953023
PubMed Link: 22629316
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: rs4953023
PubMed Link: 20686565
Variant Present in the following documents:
  • NIHMS213289-supplement-1.pdf
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Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

Plos One
Zeller, Tanja T; Wild, Philipp P; Szymczak, Silke S; Rotival, Maxime M; Schillert, Arne A; Castagne, Raphaele R; Maouche, Seraya S; Germain, Marine M; Lackner, Karl K; Rossmann, Heidi H; Eleftheriadis, Medea M; Sinning, Christoph R CR; Schnabel, Renate B RB; Lubos, Edith E; Mennerich, Detlev D; Rust, Werner W; Perret, Claire C; Proust, Carole C; Nicaud, Viviane V; Loscalzo, Joseph J; Hübner, Norbert N; Tregouet, David D; Münzel, Thomas T; Ziegler, Andreas A; Tiret, Laurence L; Blankenberg, Stefan S; Cambien, François F
Publication Date: 2010-05-18

Variant appearance in text: rs4953023
PubMed Link: 20502693
Variant Present in the following documents:
  • Main text
  • pone.0010693.pdf
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Common variants at 30 loci contribute to polygenic dyslipidemia.

Nature Genetics
Kathiresan, Sekar S; Willer, Cristen J CJ; Peloso, Gina M GM; Demissie, Serkalem S; Musunuru, Kiran K; Schadt, Eric E EE; Kaplan, Lee L; Bennett, Derrick D; Li, Yun Y; Tanaka, Toshiko T; Voight, Benjamin F BF; Bonnycastle, Lori L LL; Jackson, Anne U AU; Crawford, Gabriel G; Surti, Aarti A; Guiducci, Candace C; Burtt, Noel P NP; Parish, Sarah S; Clarke, Robert R; Zelenika, Diana D; Kubalanza, Kari A KA; Morken, Mario A MA; Scott, Laura J LJ; Stringham, Heather M HM; Galan, Pilar P; Swift, Amy J AJ; Kuusisto, Johanna J; Bergman, Richard N RN; Sundvall, Jouko J; Laakso, Markku M; Ferrucci, Luigi L; Scheet, Paul P; Sanna, Serena S; Uda, Manuela M; Yang, Qiong Q; Lunetta, Kathryn L KL; Dupuis, Josée J; de Bakker, Paul I W PI; O'Donnell, Christopher J CJ; Chambers, John C JC; Kooner, Jaspal S JS; Hercberg, Serge S; Meneton, Pierre P; Lakatta, Edward G EG; Scuteri, Angelo A; Schlessinger, David D; Tuomilehto, Jaakko J; Collins, Francis S FS; Groop, Leif L; Altshuler, David D; Collins, Rory R; Lathrop, G Mark GM; Melander, Olle O; Salomaa, Veikko V; Peltonen, Leena L; Orho-Melander, Marju M; Ordovas, Jose M JM; Boehnke, Michael M; Abecasis, Gonçalo R GR; Mohlke, Karen L KL; Cupples, L Adrienne LA
Publication Date: 2009-01

Variant appearance in text: rs4953023
PubMed Link: 19060906
Variant Present in the following documents:
  • Main text
View BVdb publication page