ABCMdb

PMID: 17070530

Nebel A, Croucher PJ, El Mokhtari NE, Flachsbart F, Schreiber S
Common coding polymorphisms in the ABCA1 gene and risk of early-onset coronary heart disease in northern Germany.
Atherosclerosis. 2007 Aug;193(2):458-60. Epub 2006 Oct 27., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCA1 p.Ile883Met Atherosclerosis 193 (2007) 458-460 Letter to the Editor Common coding polymorphisms in the ABCA1 gene and risk of early-onset coronary heart disease in northern Germany Keywords: ATP-binding cassette transporter A1 gene (ABCA1 gene); Coronary heart disease; PopGen; Single nucleotide polymorphisms (SNPs); I883M Dear Editor, The ATP-binding cassette transporter A1 (ABCA1) influences the initial steps in high-density lipoprotein (HDL) formation and the cholesterol efflux across cell membranes to acceptor molecules in the plasma. Login to comment 7 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp In the present study, we have examined the potential association between the five known coding polymorphisms R219K, V771M, I883M, E1172D and R1587K in the ABCA1 gene and early-onset CHD in a large ethnically homogeneous sample from the northernmost province in Germany. Login to comment 14 ABCA1 p.Ile883Met Single-point case control analysis revealed a marginally significant association only for marker I883M (Table 1). Login to comment 20 ABCA1 p.Ile883Met In concordance with the single-point analysis, only marker I883M exhibited significant association with CHD (P = 0.034). Login to comment 21 ABCA1 p.Arg219Lys Marker R219K showed marginal association (P = 0.066). Login to comment 25 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp We examined the five known ABCA1 polymorphisms R219K, V771M, I883M, E1172D and R1587K in early-onset 0021-9150/$ - see front matter (c) 2006 Elsevier Ireland Ltd. Login to comment 26 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp doi:10.1016/j.atherosclerosis.2006.09.022 Letter to the Editor / Atherosclerosis 193 (2007) 458-460 Table 1 Summary association statistics for common ABCA1 coding SNPs in German CHD patients and controls ABCA1 variant MAFa CHD MAFa control Pallele Pgenotype Pcarrier b ORcarrier c 95% CIcarrier d R219K (rs2230806)e 0.265 0.258 0.656 0.582 0.438 1.08 0.89-1.30 V771M (rs2066718)e 0.026 0.034 0.188 0.255 0.222 0.78 0.53-1.16 I883M (rs4149313)e 0.138 0.112 0.023 0.068 0.021 1.31 1.04-1.64 E1172D (hCV25924149)e 0.025 0.025 0.914 0.714 0.983 1.00 0.65-1.55 R1587K (rs2230808)e 0.261 0.234 0.067 0.197 0.097 1.18 0.97-1.42 a MAF, minor allele frequency. Login to comment 27 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp doi:10.1016/j.atherosclerosis.2006.09.022 Letter to the Editor / Atherosclerosis 193 (2007) 458-460 Table 1 Summary association statistics for common ABCA1 coding SNPs in German CHD patients and controls ABCA1 variant MAFa CHD MAFa control Pallele Pgenotype Pcarrier b ORcarrier c 95% CIcarrier d R219K (rs2230806)e 0.265 0.258 0.656 0.582 0.438 1.08 0.89-1.30 V771M (rs2066718)e 0.026 0.034 0.188 0.255 0.222 0.78 0.53-1.16 I883M (rs4149313)e 0.138 0.112 0.023 0.068 0.021 1.31 1.04-1.64 E1172D (hCV25924149)e 0.025 0.025 0.914 0.714 0.983 1.00 0.65-1.55 R1587K (rs2230808)e 0.261 0.234 0.067 0.197 0.097 1.18 0.97-1.42 a MAF, minor allele frequency. Login to comment 30 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp e R219K, V771M, I883M, E1172D and R1587K were typed using TaqMan&#ae; SNP Assays (Applied Biosystems, Foster City, USA). Login to comment 31 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp e R219K, V771M, I883M, E1172D and R1587K were typed using TaqMan® SNP Assays (Applied Biosystems, Foster City, USA). Login to comment 33 ABCA1 p.Ile883Met Only I883M was found to modulate susceptibility to CHD in the German population, albeit with a relatively modest effect (OR of ~1.3 for carriers of the rare variant). Login to comment 34 ABCA1 p.Ile883Met ABCA1 p.Ile883Met Only I883M was found to modulate susceptibility to CHD in the German population, albeit with a relatively modest effect (OR of ~1.3 for carriers of the rare variant). Login to comment 35 ABCA1 p.Ile883Met ABCA1 p.Ile883Met Our association between I883M and CHD is consistent with several previous reports that have demonstrated an increased CHD risk for carriers in other populations [4,6,7]. Login to comment 36 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp However, additional studies have indicated no relevant effects for the I883M genotype on CHD or HDH-C levels [8,10,11]. Login to comment 37 ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp The other four SNPs R219K, V771M, E1172D and R1587K exhibited no clear effects in the German CHD samples investigated here. Login to comment 45 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp Table 2 Logistic regression analysis for five coding SNPs in the ABCA1 gene in German CHD patients and controls Predictora ORb 95% CIc P Gender 1.05 0.81-1.36 0.721 R219K 1.20 0.99-1.47 0.066 V771M 0.90 0.57-1.41 0.645 I883M 1.28 1.02-1.61 0.034 E1172D 0.78 0.52-1.19 0.253 R1587K 1.10 0.90-1.34 0.361 a Each marker binary classified for carriership of rare allele, gender was included as a predictive variable, logistic regression analysis was performed with the R-package [14]. Login to comment 46 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Glu1172Asp Table 2 Logistic regression analysis for five coding SNPs in the ABCA1 gene in German CHD patients and controls Predictora ORb 95% CIc P Gender 1.05 0.81-1.36 0.721 R219K 1.20 0.99-1.47 0.066 V771M 0.90 0.57-1.41 0.645 I883M 1.28 1.02-1.61 0.034 E1172D 0.78 0.52-1.19 0.253 R1587K 1.10 0.90-1.34 0.361 a Each marker binary classified for carriership of rare allele, gender was included as a predictive variable, logistic regression analysis was performed with the R-package [14]. Login to comment