ABCA1 c.67-5594C>T

Variant ID: 9-107657070-G-A

NM_005502.3(ABCA1):c.67-5594C>T

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Genetic Variants and Their Associations to Type 2 Diabetes Mellitus Complications in the United Arab Emirates.

Frontiers In Endocrinology
ElHajj Chehadeh, Sarah S; Sayed, Noura S NS; Abdelsamad, Hanin S HS; Almahmeed, Wael W; Khandoker, Ahsan H AH; Jelinek, Herbert F HF; Alsafar, Habiba S HS
Publication Date: 2021

Variant appearance in text: rs3905000
PubMed Link: 35069435
Variant Present in the following documents:
  • Main text
  • fendo-12-751885.pdf
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The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

International Journal Of Molecular Sciences
Jacobo-Albavera, Leonor L; Domínguez-Pérez, Mayra M; Medina-Leyte, Diana Jhoseline DJ; González-Garrido, Antonia A; Villarreal-Molina, Teresa T
Publication Date: 2021-02-05

Variant appearance in text: rs3905000
PubMed Link: 33562440
Variant Present in the following documents:
  • Main text
  • ijms-22-01593.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: rs3905000
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
  • pone.0215911.pdf
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Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Human Genomics
Moon, Sanghoon S; Lee, Young Y; Won, Sungho S; Lee, Juyoung J
Publication Date: 2018-11-01

Variant appearance in text: rs3905000
PubMed Link: 30382898
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: rs3905000
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.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: rs3905000
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
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Polymorphisms in ABC transporter genes and concentrations of mercury in newborns--evidence from two Mediterranean birth cohorts.

Plos One
Llop, Sabrina S; Engström, Karin K; Ballester, Ferran F; Franforte, Elisa E; Alhamdow, Ayman A; Pisa, Federica F; Tratnik, Janja Snoj JS; Mazej, Datja D; Murcia, Mario M; Rebagliato, Marisa M; Bustamante, Mariona M; Sunyer, Jordi J; Sofianou-Katsoulis, Alphaikaterini A; Prasouli, Alexia A; Antonopoulou, Eleni E; Antoniadou, Ioanna I; Nakou, Sheena S; Barbone, Fabio F; Horvat, Milena M; Broberg, Karin K
Publication Date: 2014

Variant appearance in text: rs3905000
PubMed Link: 24831289
Variant Present in the following documents:
  • Main text
  • pone.0097172.pdf
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Pathway-based analysis using genome-wide association data from a Korean non-small cell lung cancer study.

Plos One
Lee, Donghoon D; Lee, Geon Kook GK; Yoon, Kyong-Ah KA; Lee, Jin Soo JS
Publication Date: 2013

Variant appearance in text: rs3905000
PubMed Link: 23762359
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: rs3905000
PubMed Link: 23555584
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: rs3905000
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.pdf
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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: rs3905000
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
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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: rs3905000
PubMed Link: 21347282
Variant Present in the following documents:
  • Main text
  • pgen.1001300.pdf
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP
Publication Date: 2010-10-15

Variant appearance in text: rs3905000
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
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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: rs3905000
PubMed Link: 20502693
Variant Present in the following documents:
  • Main text
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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: rs3905000
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: rs3905000
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
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Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
Ronald, James J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane E JE; Marshall, Julieann K JK; Hatsukami, Thomas S TS; Heagerty, Patrick J PJ; Jarvik, Gail P GP
Publication Date: 2009-12-01

Variant appearance in text: rs3905000
PubMed Link: 19951432
Variant Present in the following documents:
  • Main text
  • 1476-511X-8-52.pdf
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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: rs3905000
PubMed Link: 19060911
Variant Present in the following documents:
  • Main text
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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: rs3905000
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page