ABCA1
Polymorphisms/Variants/SNPs/Pharmacogenomics
dbSNP
Prediction:
Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. Brunham LR, Singaraja RR, Pape TD, Kejariwal A, Thomas PD, Hayden MR. PLoS Genet. 2005 Dec;1(6):e83. Epub 2005 Dec 30. PMID: 16429166
Alzheimer’s Disease:
A novel intronic polymorphism of ABCA1 gene reveals risk for sporadic Alzheimer’s disease in Chinese. Chu LW, Li Y, Li Z, Tang AY, Cheung BM, Leung RY, Yik PY, Jin DY, Song YQ. Am J Med Genet B Neuropsychiatr Genet. 2007 Dec 5;144B(8):1007-13. PMID: 17510949
Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer’s disease in Chinese. Wang F, Jia J. Brain Res. 2007 May 25;1147:34-8. Epub 2007 Feb 8. PMID: 17335784
ABCA1 polymorphisms and Alzheimer’s disease. Wavrant-De Vrièze F, Compton D, Womick M, Arepalli S, Adighibe O, Li L, Pérez-Tur J, Hardy J. Neurosci Lett. 2007 Apr 12;416(2):180-3. Epub 2007 Feb 7. PMID: 17324514
Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer’s disease. Sundar PD, Feingold E, Minster RL, DeKosky ST, Kamboh MI. Neurobiol Aging. 2007 Jun;28(6):856-62. Epub 2006 May 24. PMID: 16725228
Polymorphism in ABCA1 influences CSF 24S-hydroxycholesterol levels but is not a major risk factor of Alzheimer’s disease. Kölsch H, Lütjohann D, Jessen F, Von Bergmann K, Schmitz S, Urbach H, Maier W, Heun R. Int J Mol Med. 2006 May;17(5):791-4. PMID: 16596262
Cardiovascular diseases:
Investigation of ABCA1 C69T and G-191C polymorphisms in coronary artery disease. Ergen A, Isbir S, Tekeli A, Isbir T. In Vivo. 2008 Mar-Apr;22(2):187-90. PMID: 18468402
Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients. Kyriakou T, Pontefract DE, Viturro E, Hodgkinson CP, Laxton RC, Bogari N, Cooper G, Davies M, Giblett J, Day IN, Simpson IA, Albrecht C, Ye S. Hum Mol Genet. 2007 Jun 15;16(12):1412-22. Epub 2007 Apr 5. PMID: 17412755
Synergistic effect between polymorphisms of PPARA and ABCA1 genes on the premature coronary artery disease. Balcerzyk A, Zak I, Krauze J. Acta Cardiol. 2007 Jun;62(3):233-8. PMID: 17608096
Common coding polymorphisms in the ABCA1 gene and risk of early-onset coronary heart disease in northern Germany. Nebel A, Croucher PJ, El Mokhtari NE, Flachsbart F, Schreiber S. Atherosclerosis. 2007 Aug;193(2):458-60. Epub 2006 Oct 27. No abstract available. PMID: 17070530
ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Tan JH, Low PS, Tan YS, Tong MC, Saha N, Yang H, Heng CK. Hum Genet. 2003 Jul;113(2):106-17. Epub 2003 Apr 23. PMID: 12709788
Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases. Andrikovics H, Pongrácz E, Kalina E, Szilvási A, Aslanidis C, Schmitz G, Tordai A. Cerebrovasc Dis. 2006;21(4):254-9. Epub 2006 Jan 27. PMID: 16446539
The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia. Evans D, Beil FU. J Mol Med. 2003 Apr;81(4):264-70. Epub 2003 Mar 26. PMID: 12700893
Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (MESA). Benton JL, Ding J, Tsai MY, Shea S, Rotter JI, Burke GL, Post W. Atherosclerosis. 2007 Aug;193(2):352-60. Epub 2006 Aug 1. PMID: 16879828
Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis. Kyriakou T, Hodgkinson C, Pontefract DE, Iyengar S, Howell WM, Wong YK, Eriksson P, Ye S. Arterioscler Thromb Vasc Biol. 2005 Feb;25(2):418-23. Epub 2004 Nov 4. PMID: 15528481
ABCA1 single nucleotide polymorphisms. Snipping at the pathogenesis of atherosclerosis. Dong C, Nevins JR, Goldschmidt-Clermont PJ. Circ Res. 2001 May 11;88(9):855-7. No abstract available. PMID: 11348992
ABCA1 polymorphisms and prognosis after myocardial infarction in young patients. Martín M, González P, Reguero JJ, Batalla A, García Castro M, Coto E, Morís C. Int J Cardiol. 2006 Jun 16;110(2):267-8. Epub 2005 Nov 28. PMID: 16313984
In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Tregouet DA, Ricard S, Nicaud V, Arnould I, Soubigou S, Rosier M, Duverger N, Poirier O, Macé S, Kee F, Morrison C, Denèfle P, Tiret L, Evans A, Deleuze JF, Cambien F. Arterioscler Thromb Vasc Biol. 2004 Apr;24(4):775-81. Epub 2004 Feb 12. PMID: 14962947
In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Tregouet DA, Ricard S, Nicaud V, Arnould I, Soubigou S, Rosier M, Duverger N, Poirier O, Macé S, Kee F, Morrison C, Denèfle P, Tiret L, Evans A, Deleuze JF, Cambien F. Arterioscler Thromb Vasc Biol. 2004 Apr;24(4):775-81. Epub 2004 Feb 12. PMID: 14962947
R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. The Bogalusa heart study. Srinivasan SR, Li S, Chen W, Boerwinkle E, Berenson GS. Metabolism. 2003 Jul;52(7):930-4. PMID: 12870173
Diabetes:
Association of the ABCA1 gene polymorphisms with type 2 DM in a Japanese population. Daimon M, Kido T, Baba M, Oizumi T, Jimbu Y, Kameda W, Yamaguchi H, Ohnuma H, Tominaga M, Muramatsu M, Kato T. Biochem Biophys Res Commun. 2005 Apr 1;329(1):205-10. PMID: 15721294
Hypertension:
Association of polymorphisms of ABCA1 and ROS1 with hypertension in Japanese individuals. Yamada Y, Kato K, Yoshida T, Yokoi K, Matsuo H, Watanabe S, Ichihara S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Yasunaga A, Park H, Tanaka M, Nozawa Y. Int J Mol Med. 2008 Jan;21(1):83-9. PMID: 18097620
Obesity:
ABCA1 single nucleotide polymorphisms on high-density lipoprotein-cholesterol and overweight: the D.E.S.I.R. study. Porchay I, Péan F, Bellili N, Royer B, Cogneau J, Chesnier MC, Caradec A, Tichet J, Balkau B, Marre M, Fumeron F. Obesity (Silver Spring). 2006 Nov;14(11):1874-9. PMID: 17135600
Stroke:
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile. Pasdar A, Yadegarfar G, Cumming A, Whalley L, St Clair D, MacLeod MJ. BMC Med Genet. 2007 Jun 6;8:30. PMID: 17553166
