Variant ID: 9-107647655-G-A

NM_005502.3(ABCA1):c.161-806C>T

This variant was identified in 38 publications




Publications:


A Birth Cohort Study on the Genetic Modification of the Association of Prenatal Methylmercury With Child Cognitive Development.

American Journal Of Epidemiology
J Julvez, G Davey Smith, S Ring, P Grandjean
Publication Date: 2019-10-01

Variant appearance in text: N/A
PMID: 31241132
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Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
AD Howard, X Wang, M Prasad, AD Sahu, R Aniba, M Miller, S Hannenhalli, YC Chang
Publication Date: 2019

Variant appearance in text: N/A
PMID: 31039173
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Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.

Nutrients
S Galmés, F Serra, A Palou
Publication Date: 2018-12-04

Variant appearance in text: rs3890182
PMID: 30518135
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Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
AS Geller, EY Polisecki, MR Diffenderfer, BF Asztalos, SK Karathanasis, RA Hegele, EJ Schaefer
Publication Date: 2018-12

Variant appearance in text: N/A
PMID: 30333156
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Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics
JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke
Publication Date: 2017-10

Variant appearance in text: N/A
PMID: 29084231
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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
CS Paththinige, ND Sirisena, V Dissanayake
Publication Date: 2017-06-02

Variant appearance in text: N/A
PMID: 28577571
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Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.

International Journal Of Environmental Research And Public Health
MH Yao, J He, RL Ma, YS Ding, H Guo, YZ Yan, JY Zhang, JM Liu, M Zhang, DS Rui, Q Niu, SX Guo
Publication Date: 2016-02-15

Variant appearance in text: N/A
PMID: 26891315
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Interactions of Six SNPs in ABCA1gene and Obesity in Low HDL-C Disease in Kazakh of China.

International Journal Of Environmental Research And Public Health
MH Yao, H Guo, J He, YZ Yan, RL Ma, YS Ding, JY Zhang, JM Liu, M Zhang, SG Li, SZ Xu, Q Niu, JL Ma, SX Guo
Publication Date: 2016-01-28

Variant appearance in text: N/A
PMID: 26828509
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Genetic Variants Associated with Lipid Profiles in Chinese Patients with Type 2 Diabetes.

Plos One
X Kong, Q Zhao, X Xing, B Zhang, X Zhang, J Hong, W Yang
Publication Date: 2015

Variant appearance in text: N/A
PMID: 26252223
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A comparative encyclopedia of DNA elements in the mouse genome.

Nature
F Yue, Y Cheng, A Breschi, J Vierstra, W Wu, T Ryba, R Sandstrom, Z Ma, C Davis, BD Pope, Y Shen, DD Pervouchine, S Djebali, RE Thurman, R Kaul, E Rynes, A Kirilusha, GK Marinov, BA Williams, D Trout, H Amrhein, K Fisher-Aylor, I Antoshechkin, G DeSalvo, LH See, M Fastuca, J Drenkow, C Zaleski, A Dobin, P Prieto, J Lagarde, G Bussotti, A Tanzer, O Denas, K Li, MA Bender, M Zhang, R Byron, MT Groudine, D McCleary, L Pham, Z Ye, S Kuan, L Edsall, YC Wu, MD Rasmussen, MS Bansal, M Kellis, CA Keller, CS Morrissey, T Mishra, D Jain, N Dogan, RS Harris, P Cayting, T Kawli, AP Boyle, G Euskirchen, A Kundaje, S Lin, Y Lin, C Jansen, VS Malladi, MS Cline, DT Erickson, VM Kirkup, K Learned, CA Sloan, KR Rosenbloom, B Lacerda de Sousa, K Beal, M Pignatelli, P Flicek, J Lian, T Kahveci, D Lee, WJ Kent, M Ramalho Santos, J Herrero, C Notredame, A Johnson, S Vong, K Lee, D Bates, F Neri, M Diegel, T Canfield, PJ Sabo, MS Wilken, TA Reh, E Giste, A Shafer, T Kutyavin, E Haugen, D Dunn, AP Reynolds, S Neph, R Humbert, RS Hansen, M De Bruijn, L Selleri, A Rudensky, S Josefowicz, R Samstein, EE Eichler, SH Orkin, D Levasseur, T Papayannopoulou, KH Chang, A Skoultchi, S Gosh, C Disteche, P Treuting, Y Wang, MJ Weiss, GA Blobel, X Cao, S Zhong, T Wang, PJ Good, RF Lowdon, LB Adams, XQ Zhou, MJ Pazin, EA Feingold, B Wold, J Taylor, A Mortazavi, SM Weissman, JA Stamatoyannopoulos, MP Snyder, R Guigo, TR Gingeras, DM Gilbert, RC Hardison, MA Beer, B Ren,
Publication Date: 2014-11-20

Variant appearance in text: N/A
PMID: 25409824
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Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.

Investigative Ophthalmology & Visual Science
NA Restrepo, KL Spencer, R Goodloe, TA Garrett, G Heiss, P Bůžková, N Jorgensen, RA Jensen, TC Matise, LA Hindorff, BE Klein, R Klein, TY Wong, CY Cheng, BK Cornes, ES Tai, MD Ritchie, JL Haines, DC Crawford
Publication Date: 2014-09-09

Variant appearance in text: N/A
PMID: 25205864
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An in-silico model of lipoprotein metabolism and kinetics for the evaluation of targets and biomarkers in the reverse cholesterol transport pathway.

Plos Computational Biology
J Lu, K Hübner, MN Nanjee, EA Brinton, NA Mazer
Publication Date: 2014-03

Variant appearance in text: N/A
PMID: 24625468
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Impact of HDL genetic risk scores on coronary artery calcified plaque and mortality in individuals with type 2 diabetes from the Diabetes Heart Study.

Cardiovascular Diabetology
LM Raffield, AJ Cox, FC Hsu, MC Ng, CD Langefeld, JJ Carr, BI Freedman, DW Bowden
Publication Date: 2013-06-25

Variant appearance in text: N/A
PMID: 23799899
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Linear regression in genetic association studies.

Plos One
P Bůžková
Publication Date: 2013

Variant appearance in text: N/A
PMID: 23437286
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Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study.

Cardiovascular Diabetology
CM Povel, JM Boer, NC Onland-Moret, ME Dollé, EJ Feskens, YT van der Schouw
Publication Date: 2012-10-29

Variant appearance in text: N/A
PMID: 23101478
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Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association
PC Mann, ME Cooper, KK Ryckman, B Comas, J Gili, S Crumley, EN Bream, HM Byers, T Piester, A Schaefer, PJ Christine, A Lawrence, KL Schaa, KJ Kelsey, SK Berends, AM Momany, E Gadow, V Cosentino, EE Castilla, J López Camelo, C Saleme, LJ Day, SK England, ML Marazita, JM Dagle, JC Murray
Publication Date: 2013-05

Variant appearance in text: rs3890182
PMID: 23018797
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Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.

Lancet (London, England)
BF Voight, GM Peloso, M Orho-Melander, R Frikke-Schmidt, M Barbalic, MK Jensen, G Hindy, H Hólm, EL Ding, T Johnson, H Schunkert, NJ Samani, R Clarke, JC Hopewell, JF Thompson, M Li, G Thorleifsson, C Newton-Cheh, K Musunuru, JP Pirruccello, D Saleheen, L Chen, A Stewart, A Schillert, U Thorsteinsdottir, G Thorgeirsson, S Anand, JC Engert, T Morgan, J Spertus, M Stoll, K Berger, N Martinelli, D Girelli, PP McKeown, CC Patterson, SE Epstein, J Devaney, MS Burnett, V Mooser, S Ripatti, I Surakka, MS Nieminen, J Sinisalo, ML Lokki, M Perola, A Havulinna, U de Faire, B Gigante, E Ingelsson, T Zeller, P Wild, PI de Bakker, OH Klungel, AH Maitland-van der Zee, BJ Peters, A de Boer, DE Grobbee, PW Kamphuisen, VH Deneer, CC Elbers, NC Onland-Moret, MH Hofker, C Wijmenga, WM Verschuren, JM Boer, YT van der Schouw, A Rasheed, P Frossard, S Demissie, C Willer, R Do, JM Ordovas, GR Abecasis, M Boehnke, KL Mohlke, MJ Daly, C Guiducci, NP Burtt, A Surti, E Gonzalez, S Purcell, S Gabriel, J Marrugat, J Peden, J Erdmann, P Diemert, C Willenborg, IR König, M Fischer, C Hengstenberg, A Ziegler, I Buysschaert, D Lambrechts, F Van de Werf, KA Fox, NE El Mokhtari, D Rubin, J Schrezenmeir, S Schreiber, A Schäfer, J Danesh, S Blankenberg, R Roberts, R McPherson, H Watkins, AS Hall, K Overvad, E Rimm, E Boerwinkle, A Tybjaerg-Hansen, LA Cupples, MP Reilly, O Melander, PM Mannucci, D Ardissino, D Siscovick, R Elosua, K Stefansson, CJ O'Donnell, V Salomaa, DJ Rader, L Peltonen, SM Schwartz, D Altshuler, S Kathiresan
Publication Date: 2012-08-11

Variant appearance in text: N/A
PMID: 22607825
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan
Publication Date: 2011-07-26

Variant appearance in text: N/A
PMID: 21860704
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Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.

European Heart Journal
A Angelakopoulou, T Shah, R Sofat, S Shah, DJ Berry, J Cooper, J Palmen, I Tzoulaki, A Wong, BJ Jefferis, N Maniatis, F Drenos, B Gigante, R Hardy, RC Laxton, K Leander, A Motterle, IA Simpson, L Smeeth, A Thomson, C Verzilli, D Kuh, H Ireland, J Deanfield, M Caulfield, C Wallace, N Samani, PB Munroe, M Lathrop, FG Fowkes, M Marmot, PH Whincup, JC Whittaker, U de Faire, M Kivimaki, M Kumari, E Hypponen, C Power, SE Humphries, PJ Talmud, J Price, RW Morris, S Ye, JP Casas, AD Hingorani
Publication Date: 2012-02

Variant appearance in text: N/A
PMID: 21804106
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Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
L Dumitrescu, CL Carty, K Taylor, FR Schumacher, LA Hindorff, JL Ambite, G Anderson, LG Best, K Brown-Gentry, P Bůžková, CS Carlson, B Cochran, SA Cole, RB Devereux, D Duggan, CB Eaton, M Fornage, N Franceschini, J Haessler, BV Howard, KC Johnson, S Laston, LN Kolonel, ET Lee, JW MacCluer, TA Manolio, SA Pendergrass, M Quibrera, RV Shohet, LR Wilkens, CA Haiman, L Le Marchand, S Buyske, C Kooperberg, KE North, DC Crawford
Publication Date: 2011-06

Variant appearance in text: N/A
PMID: 21738485
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Genetic variants and their interactions in the prediction of increased pre-clinical carotid atherosclerosis: the cardiovascular risk in young Finns study.

Plos Genetics
S Okser, T Lehtimäki, LL Elo, N Mononen, N Peltonen, M Kähönen, M Juonala, YM Fan, JA Hernesniemi, T Laitinen, LP Lyytikäinen, R Rontu, C Eklund, N Hutri-Kähönen, L Taittonen, M Hurme, JS Viikari, OT Raitakari, T Aittokallio
Publication Date: 2010-09-30

Variant appearance in text: N/A
PMID: 20941391
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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
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: N/A
PMID: 20876667
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Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
DM Waterworth, SL Ricketts, K Song, L Chen, JH Zhao, S Ripatti, YS Aulchenko, W Zhang, X Yuan, N Lim, J Luan, S Ashford, E Wheeler, EH Young, D Hadley, JR Thompson, PS Braund, T Johnson, M Struchalin, I Surakka, R Luben, KT Khaw, SA Rodwell, RJ Loos, SM Boekholdt, M Inouye, P Deloukas, P Elliott, D Schlessinger, S Sanna, A Scuteri, A Jackson, KL Mohlke, J Tuomilehto, R Roberts, A Stewart, YA Kesäniemi, RW Mahley, SM Grundy, , W McArdle, L Cardon, G Waeber, P Vollenweider, JC Chambers, M Boehnke, GR Abecasis, V Salomaa, MR Järvelin, A Ruokonen, I Barroso, SE Epstein, HH Hakonarson, DJ Rader, MP Reilly, JC Witteman, AS Hall, NJ Samani, DP Strachan, P Barter, CM van Duijn, JS Kooner, L Peltonen, NJ Wareham, R McPherson, V Mooser, MS Sandhu
Publication Date: 2010-11

Variant appearance in text: N/A
PMID: 20864672
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Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

Plos One
T Zeller, P Wild, S Szymczak, M Rotival, A Schillert, R Castagne, S Maouche, M Germain, K Lackner, H Rossmann, M Eleftheriadis, CR Sinning, RB Schnabel, E Lubos, D Mennerich, W Rust, C Perret, C Proust, V Nicaud, J Loscalzo, N Hübner, D Tregouet, T Münzel, A Ziegler, L Tiret, S Blankenberg, F Cambien
Publication Date: 2010-05-18

Variant appearance in text: N/A
PMID: 20502693
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Genetic causes of high and low serum HDL-cholesterol.

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

Variant appearance in text: rs3890182
PMID: 20421590
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The genetics of obesity and the metabolic syndrome.

Endocrine, Metabolic & Immune Disorders Drug Targets
KL Monda, KE North, SC Hunt, DC Rao, MA Province, AT Kraja
Publication Date: 2010-06

Variant appearance in text: N/A
PMID: 20406164
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Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.

Circulation. Cardiovascular Genetics
ME Keebler, CL Sanders, A Surti, C Guiducci, NP Burtt, S Kathiresan
Publication Date: 2009-06

Variant appearance in text: rs3890182
PMID: 20031591
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Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.

Bmc Proceedings
JS Hamid, NM Roslin, AD Paterson, J Beyene
Publication Date: 2009-12-15

Variant appearance in text: N/A
PMID: 20018036
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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
J Ronald, R Rajagopalan, JE Ranchalis, JK Marshall, TS Hatsukami, PJ Heagerty, GP Jarvik
Publication Date: 2009-12-01

Variant appearance in text: N/A
PMID: 19951432
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A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women.

Journal Of Lipid Research
V Hamrefors, M Orho-Melander, RM Krauss, B Hedblad, P Almgren, G Berglund, O Melander
Publication Date: 2010-03

Variant appearance in text: N/A
PMID: 19773416
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A survey of ABCA1 sequence variation confirms association with dementia.

Human Mutation
CA Reynolds, MG Hong, UK Eriksson, K Blennow, AM Bennet, B Johansson, B Malmberg, S Berg, F Wiklund, M Gatz, NL Pedersen, JA Prince
Publication Date: 2009-09

Variant appearance in text: N/A
PMID: 19606474
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Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study.

Journal Of Medical Genetics
X Li, KL Monda, HH Göring, K Haack, SA Cole, VP Diego, L Almasy, S Laston, BV Howard, NM Shara, ET Lee, LG Best, RR Fabsitz, JW MacCluer, KE North
Publication Date: 2009-07

Variant appearance in text: N/A
PMID: 19429595
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Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

Plos Genetics
JK Lowe, JB Maller, I Pe'er, BM Neale, J Salit, EE Kenny, JL Shea, R Burkhardt, JG Smith, W Ji, M Noel, JN Foo, ML Blundell, V Skilling, L Garcia, ML Sullivan, HE Lee, A Labek, H Ferdowsian, SB Auerbach, RP Lifton, C Newton-Cheh, JL Breslow, M Stoffel, MJ Daly, DM Altshuler, JM Friedman
Publication Date: 2009-02

Variant appearance in text: N/A
PMID: 19197348
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Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

Plos Genetics
RC Deo, D Reich, A Tandon, E Akylbekova, N Patterson, A Waliszewska, S Kathiresan, D Sarpong, HA Taylor, JG Wilson
Publication Date: 2009-01

Variant appearance in text: N/A
PMID: 19148283
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Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Nature Genetics
C Sabatti, SK Service, AL Hartikainen, A Pouta, S Ripatti, J Brodsky, CG Jones, NA Zaitlen, T Varilo, M Kaakinen, U Sovio, A Ruokonen, J Laitinen, E Jakkula, L Coin, C Hoggart, A Collins, H Turunen, S Gabriel, P Elliot, MI McCarthy, MJ Daly, MR Järvelin, NB Freimer, L Peltonen
Publication Date: 2009-01

Variant appearance in text: N/A
PMID: 19060910
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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
E Boes, S Coassin, B Kollerits, IM Heid, F Kronenberg
Publication Date: 2009-03

Variant appearance in text: N/A
PMID: 19041386
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Nature Genetics
S Kathiresan, O Melander, C Guiducci, A Surti, NP Burtt, MJ Rieder, GM Cooper, C Roos, BF Voight, AS Havulinna, B Wahlstrand, T Hedner, D Corella, ES Tai, JM Ordovas, G Berglund, E Vartiainen, P Jousilahti, B Hedblad, MR Taskinen, C Newton-Cheh, V Salomaa, L Peltonen, L Groop, DM Altshuler, M Orho-Melander
Publication Date: 2008-02

Variant appearance in text: N/A
PMID: 18193044
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Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

American Journal Of Human Genetics
C Wallace, SJ Newhouse, P Braund, F Zhang, M Tobin, M Falchi, K Ahmadi, RJ Dobson, AC Marçano, C Hajat, P Burton, P Deloukas, M Brown, JM Connell, A Dominiczak, GM Lathrop, J Webster, M Farrall, T Spector, NJ Samani, MJ Caulfield, PB Munroe
Publication Date: 2008-01

Variant appearance in text: N/A
PMID: 18179892
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374733.1 c.-20-806C>T - intron_variant - 2/4
ENST00000374736.3 c.161-806C>T - intron_variant - 3/49
ENST00000423487.2 c.161-806C>T - intron_variant - 3/7
NM_005502.4 c.161-806C>T - intron_variant - 3/49