PMID: 17412755

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
Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients.
Hum Mol Genet. 2007 Jun 15;16(12):1412-22. Epub 2007 Apr 5., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:8:72
status: NEW
view ABCA1 p.Val825Ile details
Functional analyses of the coding polymorphisms showed an effect of the V825I substitution on ABCA1 function, with the 825I variant having higher activity in mediating cholesterol efflux than the wild-type (825V). Login to comment
52 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:52:37
status: NEW
view ABCA1 p.Ile883Met details
Comparing different genotypes of the I883M polymorphism, 883M/883M homozygotes and 883I/ 883M heterozygotes had higher mean HDL level than 883I/ 883I homozygotes [mean (SD) ¼ 1.34 (0.34), 1.39 (0.36) and 1.20 (0.27) mmol/l, respectively; P ¼ 0.0004; Table 5]. Login to comment
53 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:53:219
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:53:190
status: NEW
view ABCA1 p.Val825Ile details
The relationships were still observed after adjusting for age, gender, smoking, body mass index, hypertension, type 1 diabetes, type 2 diabetes and family history of CAD (P ¼ 0.048 for V825I and P ¼ 0.001 for I883M). Login to comment
54 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:54:37
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:54:240
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:54:230
status: NEW
view ABCA1 p.Val825Ile details
Gender ratio, percentage of smokers, body mass index, total cholesterol and triglyceride levels, hypertension, type 1 and type 2 diabetes and family history of CAD did not significantly differ among the different genotypes of the V825I and I883M SNPs. No significant association was observed between HDL level and the other SNPs studied. Login to comment
55 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:55:217
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:55:189
status: NEW
view ABCA1 p.Val825Ile details
The relationships were still observed after adjusting for age, gender, smoking, body mass index, hypertension, type 1 diabetes, type 2 diabetes and family history of CAD (P &#bc; 0.048 for V825I and P &#bc; 0.001 for I883M). Login to comment
56 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:56:240
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:56:230
status: NEW
view ABCA1 p.Val825Ile details
Gender ratio, percentage of smokers, body mass index, total cholesterol and triglyceride levels, hypertension, type 1 and type 2 diabetes and family history of CAD did not significantly differ among the different genotypes of the V825I and I883M SNPs. No significant association was observed between HDL level and the other SNPs studied. Login to comment
67 ABCA1 p.Leu1379Phe
X
ABCA1 p.Leu1379Phe 17412755:67:283
status: NEW
view ABCA1 p.Leu1379Phe details
ABCA1 p.Val1704Asp
X
ABCA1 p.Val1704Asp 17412755:67:272
status: NEW
view ABCA1 p.Val1704Asp details
As expected, compared with the rate of cholesterol efflux in cells transfected with the plasmid expressing the wild-type ABCA1, the rates of cholesterol efflux were significantly lower in untransfected cells and in cells transfected with the plasmid expressing the ABCA1 (V1704D and L1379F) mutant which had previously been shown to result in complete loss of ABCA1 function (24) (P , 0.001; Fig. 4). Login to comment
69 ABCA1 p.Leu1379Phe
X
ABCA1 p.Leu1379Phe 17412755:69:283
status: NEW
view ABCA1 p.Leu1379Phe details
ABCA1 p.Val1704Asp
X
ABCA1 p.Val1704Asp 17412755:69:272
status: NEW
view ABCA1 p.Val1704Asp details
As expected, compared with the rate of cholesterol efflux in cells transfected with the plasmid expressing the wild-type ABCA1, the rates of cholesterol efflux were significantly lower in untransfected cells and in cells transfected with the plasmid expressing the ABCA1 (V1704D and L1379F) mutant which had previously been shown to result in complete loss of ABCA1 function (24) (P , 0.001; Fig. 4). Login to comment
74 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:74:167
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:74:2080
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:74:155
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:74:1625
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:74:161
status: NEW
view ABCA1 p.Val825Ile details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:74:1845
status: NEW
view ABCA1 p.Val825Ile details
Coefficients (D 0 ) of pair-wise linkage disequilibrium between ABCA1 SNPs 21801 21652 21506 21395 21252 21217 21034 2940 2803 2565 2407 2302 2278 299 214 R219K V825I I883M 21652A.G 20.97 Ã 21506G.C 20.97 Ã 20.86 Ã 21395C.T 0.94 Ã 20.94 Ã 20.91 Ã 21252G.A 20.90 Ã 0.89 Ã 20.64 † 20.95 Ã 21217C.T 21.00 Ã 0.96 Ã 20.94 Ã 20.97 Ã 20.91 † 21034ATins/del 20.91 Ã 20.90 Ã 0.89 Ã 20.94 Ã 20.80 Ã 20.94 Ã 2940T.G 20.95 Ã 0.40 Ã 0.90 Ã 20.95 Ã 20.79 Ã 0.96 Ã 0.84 Ã 2803G.A 0.93 Ã 20.91 Ã 20.95 Ã 0.96 Ã 20.83 † 21.00 Ã 20.95 Ã 20.98 Ã 2565C.T 20.95 Ã 20.42 Ã 0.71 Ã 20.97 Ã 20.81 Ã 1.00 Ã 0.74 Ã 0.92 Ã 20.98 Ã 2407G.C 20.87 Ã 0.39 Ã 0.71 Ã 20.86 Ã 20.74 Ã 0.88 Ã 0.73 Ã 0.86 Ã 20.95 Ã 0.92 Ã 2302C.T 20.85 Ã 20.90 Ã 0.87 Ã 20.88 Ã 20.77 Ã 20.87 Ã 0.90 Ã 0.84 Ã 20.89 Ã 0.94 Ã 0.98 Ã 2278G.C 20.94 Ã 0.41 Ã 0.72 Ã 20.94 Ã 20.83 Ã 0.96 Ã 0.77 Ã 0.93 Ã 20.98 Ã 0.99 Ã 0.91 Ã 0.92 Ã 299G.C 0.79 Ã 20.81 Ã 20.84 Ã 0.82 Ã 20.96 Ã 20.88 Ã 20.80 Ã 20.82 Ã 20.96 Ã 20.85 Ã 20.75 Ã 20.88 Ã 20.85 Ã 214C.T 20.93 Ã 0.10 † 0.78 Ã 20.94 Ã 20.81 Ã 20.89 Ã 0.77 Ã 0.91 Ã 21.00 Ã 0.98 Ã 0.90 Ã 0.84 Ã 0.98 Ã 20.86 Ã R219K 0.14 † 20.17 † 20.18 ‡ 0.14 † 20.62 Ã 0.01 ‡ 20.16 ‡ 0.00 ‡ 0.09 ‡ 20.11 † 0.10 ‡ 20.17 ‡ 0.11 ‡ 0.04 ‡ 0.05 ‡ V825I 20.03 ‡ 20.39 † 0.14 † 0.19 ‡ 20.35 ‡ 20.62 ‡ 0.17 † 20.06 ‡ 0.02 ‡ 0.12 ‡ 0.15 ‡ 0.03 ‡ 20.12 ‡ 0.09 ‡ 0.04 ‡ 20.88 Ã I883M 0.08 ‡ 20.38 † 0.09 † 0.05 ‡ 20.24 ‡ 20.18 ‡ 0.11 † 0.02 ‡ 20.05 ‡ 0.04 ‡ 20.04 ‡ 0.04 ‡ 0.02 ‡ 20.12 ‡ 0.01 ‡ 0.25 Ã 0.81 Ã R1587K 0.00 ‡ 0.03 ‡ 20.04 ‡ 20.05 ‡ 0.06 ‡ 0.00 ‡ 0.01 ‡ 20.04 ‡ 20.08 ‡ 20.07 ‡ 20.08 ‡ 20.08 † 20.06 ‡ 0.01 ‡ 20.03 ‡ 0.14 † 20.27 ‡ 20.01 ‡ Ã P , 0.001. Login to comment
76 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:76:167
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:76:1532
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:76:155
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:76:1116
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:76:161
status: NEW
view ABCA1 p.Val825Ile details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:76:1317
status: NEW
view ABCA1 p.Val825Ile details
Coefficients (D 0 ) of pair-wise linkage disequilibrium between ABCA1 SNPs 21801 21652 21506 21395 21252 21217 21034 2940 2803 2565 2407 2302 2278 299 214 R219K V825I I883M 21652A.G 20.97  21506G.C 20.97  20.86  21395C.T 0.94  20.94  20.91  21252G.A 20.90  0.89  20.64 ߤ 20.95  21217C.T 21.00  0.96  20.94  20.97  20.91 ߤ 21034ATins/del 20.91  20.90  0.89  20.94  20.80  20.94  2940T.G 20.95  0.40  0.90  20.95  20.79  0.96  0.84  2803G.A 0.93  20.91  20.95  0.96  20.83 ߤ 21.00  20.95  20.98  2565C.T 20.95  20.42  0.71  20.97  20.81  1.00  0.74  0.92  20.98  2407G.C 20.87  0.39  0.71  20.86  20.74  0.88  0.73  0.86  20.95  0.92  2302C.T 20.85  20.90  0.87  20.88  20.77  20.87  0.90  0.84  20.89  0.94  0.98  2278G.C 20.94  0.41  0.72  20.94  20.83  0.96  0.77  0.93  20.98  0.99  0.91  0.92  299G.C 0.79  20.81  20.84  0.82  20.96  20.88  20.80  20.82  20.96  20.85  20.75  20.88  20.85  214C.T 20.93  0.10 ߤ 0.78  20.94  20.81  20.89  0.77  0.91  21.00  0.98  0.90  0.84  0.98  20.86  R219K 0.14 ߤ 20.17 ߤ 20.18 ߥ 0.14 ߤ 20.62  0.01 ߥ 20.16 ߥ 0.00 ߥ 0.09 ߥ 20.11 ߤ 0.10 ߥ 20.17 ߥ 0.11 ߥ 0.04 ߥ 0.05 ߥ V825I 20.03 ߥ 20.39 ߤ 0.14 ߤ 0.19 ߥ 20.35 ߥ 20.62 ߥ 0.17 ߤ 20.06 ߥ 0.02 ߥ 0.12 ߥ 0.15 ߥ 0.03 ߥ 20.12 ߥ 0.09 ߥ 0.04 ߥ 20.88  I883M 0.08 ߥ 20.38 ߤ 0.09 ߤ 0.05 ߥ 20.24 ߥ 20.18 ߥ 0.11 ߤ 0.02 ߥ 20.05 ߥ 0.04 ߥ 20.04 ߥ 0.04 ߥ 0.02 ߥ 20.12 ߥ 0.01 ߥ 0.25  0.81  R1587K 0.00 ߥ 0.03 ߥ 20.04 ߥ 20.05 ߥ 0.06 ߥ 0.00 ߥ 0.01 ߥ 20.04 ߥ 20.08 ߥ 20.07 ߥ 20.08 ߥ 20.08 ߤ 20.06 ߥ 0.01 ߥ 20.03 ߥ 0.14 ߤ 20.27 ߥ 20.01 ߥ  P , 0.001. Login to comment
85 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:85:14
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:85:4
status: NEW
view ABCA1 p.Val825Ile details
The V825I and I883M SNPs were found to be in strong LD in our sample and other European populations (14,15). Login to comment
86 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:86:14
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:86:4
status: NEW
view ABCA1 p.Val825Ile details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:86:203
status: NEW
view ABCA1 p.Val825Ile details
In the in vitro assays, we found that the rate of cholesterol efflux in cells expressing the 825I variant was higher than in cells expressing the ABCA1 wild-type (825V), indicating a potential effect of V825I on ABCA1 function in facilitating cellular cholesterol efflux, which could potentially explain its association with HDL level. Login to comment
87 ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:87:203
status: NEW
view ABCA1 p.Val825Ile details
In the in vitro assays, we found that the rate of cholesterol efflux in cells expressing the 825I variant was higher than in cells expressing the ABCA1 wild-type (825V), indicating a potential effect of V825I on ABCA1 function in facilitating cellular cholesterol efflux, which could potentially explain its association with HDL level. Login to comment
92 ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:92:126
status: NEW
view ABCA1 p.Val825Ile details
It is plausible that the relationship of this SNP with plasma HDL level might have arisen from its LD with other SNPs such as V825I. Login to comment
93 ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:93:126
status: NEW
view ABCA1 p.Val825Ile details
It is plausible that the relationship of this SNP with plasma HDL level might have arisen from its LD with other SNPs such as V825I. Login to comment
95 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:95:762
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:95:401
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:95:1026
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:95:582
status: NEW
view ABCA1 p.Val825Ile details
A G/G 59.94 (9.79), 708 0.57 299G.C (rs2740483) G/G 60.41 (9.90), 505 0.12 G/A 59.80 (9.88), 180 G/C 59.41 (9.68), 363 A/A 57.80 (8.82), 15 C/C 59.18 (9.35), 78 21217C.T (rs10991420) C/C 59.47 (9.82), 769 0.05 214C.T (rs1800977) C/C 59.80 (9.69), 460 0.54 C/T 61.11 (9.48), 209 C/T 59.74 (9.80), 401 T/T 59.82 (11.39), 11 T/T 60.68 (10.5), 113 21034ATins/del (rs34669957) AT/AT 59.63 (9.71), 621 0.37 R219K (rs2230806) R/R 60.07 (9.94), 503 0.52 AT/ 2 60.14 (9.73), 350 R/K 59.82 (9.84), 392 2/2 60.49 (11.13), 43 K/K 59.33 (8.81), 78 2940T.G (rs2980083) T/T 59.11 (9.51), 273 0.03 V825I (rs28587567) V/V 59.70 (9.86), 866 0.24 T/G 59.85 (9.68), 430 V/I 60.75 (9.52), 100 G/G 61.07 (9.86), 200 I/I 63.46 (9.07), 4 2803G.A (rs10991419) G/G 59.83 (9.74), 812 0.79 I883M (rs4149313) I/I 60.38 (9.66), 644 0.23 G/A 59.73 (9.91), 192 I/M 59.10 (9.65), 217 A/A 58.94 (10.85), 14 M/M 62.12 (6.36), 19 R1587K (rs2230808) R/R 60.23 (9.95), 496 0.30 R/K 58.90 (9.50), 301 K/K 60.93 (9.12), 41 1416 association was detected between the R219K SNP and plasma level of HDL. Login to comment
96 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:96:762
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:96:401
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:96:1022
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:96:582
status: NEW
view ABCA1 p.Val825Ile details
A G/G 59.94 (9.79), 708 0.57 299G.C (rs2740483) G/G 60.41 (9.90), 505 0.12 G/A 59.80 (9.88), 180 G/C 59.41 (9.68), 363 A/A 57.80 (8.82), 15 C/C 59.18 (9.35), 78 21217C.T (rs10991420) C/C 59.47 (9.82), 769 0.05 214C.T (rs1800977) C/C 59.80 (9.69), 460 0.54 C/T 61.11 (9.48), 209 C/T 59.74 (9.80), 401 T/T 59.82 (11.39), 11 T/T 60.68 (10.5), 113 21034ATins/del (rs34669957) AT/AT 59.63 (9.71), 621 0.37 R219K (rs2230806) R/R 60.07 (9.94), 503 0.52 AT/ 2 60.14 (9.73), 350 R/K 59.82 (9.84), 392 2/2 60.49 (11.13), 43 K/K 59.33 (8.81), 78 2940T.G (rs2980083) T/T 59.11 (9.51), 273 0.03 V825I (rs28587567) V/V 59.70 (9.86), 866 0.24 T/G 59.85 (9.68), 430 V/I 60.75 (9.52), 100 G/G 61.07 (9.86), 200 I/I 63.46 (9.07), 4 2803G.A (rs10991419) G/G 59.83 (9.74), 812 0.79 I883M (rs4149313) I/I 60.38 (9.66), 644 0.23 G/A 59.73 (9.91), 192 I/M 59.10 (9.65), 217 A/A 58.94 (10.85), 14 M/M 62.12 (6.36), 19 R1587K (rs2230808) R/R 60.23 (9.95), 496 0.30 R/K 58.90 (9.50), 301 K/K 60.93 (9.12), 41 association was detected between the R219K SNP and plasma level of HDL. Login to comment
119 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:119:1563
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:119:1219
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:119:1391
status: NEW
view ABCA1 p.Val825Ile details
Plasma HDL levels (mmol/L) according to ABCA1 genotypes Polymorphism Genotype Mean (SD), n P-value Polymorphism Genotype Mean (SD), n P-value 21801C.T (rs2487046) C/C 1.26 (0.31), 93 0.88 2565C.T (rs2422493) C/C 1.25 (0.32), 81 0.78 C/T 1.23 (0.31), 122 C/T 1.24 (0.30), 137 T/T 1.29 (0.33), 40 T/T 1.23 (0.28), 54 21652A.G (rs10124728) A/A 1.22 (0.29), 99 0.37 2407G.C (rs2246293) G/G 1.24 (0.32), 76 0.80 A/G 1.25 (0.31), 131 G/C 1.23 (0.30), 123 G/G 1.29 (0.35), 30 C/C 1.24 (0.27), 52 21506G.C (rs2487047) G/G 1.26 (0.33), 156 0.47 2302C.T (rs2246298) C/C 1.26 (0.32), 165 0.67 G/C 1.21 (0.28), 90 C/T 1.21 (0.27), 68 C/C 1.24 (0.29), 14 T/T 1.27 (0.26), 13 21395C.T (rs2487048) C/C 1.26 (0.31), 96 0.83 2278G.C (rs1800976) G/G 1.25 (0.32), 80 0.79 C/T 1.22 (0.29), 115 G/C 1.24 (0.30), 126 T/T 1.26 (0.32), 45 C/C 1.23 (0.28), 51 21252G.A G/G 1.23 (0.29), 193 0.13 299G.C (rs2740483) G/G 1.25 (0.29), 139 0.83 G/A 1.27 (0.29), 44 G/C 1.23 (0.31), 93 A/A 1.27 (0.34), 7 C/C 1.30 (0.28), 21 21217C.T (rs10991420) C/C 1.25 (0.32), 202 0.64 214C.T (rs1800977) C/C 1.25 (0.31), 126 0.59 C/T 1.23 (0.28), 56 C/T 1.25 (0.32), 99 T/T 0.97 (2), 1 T/T 1.20 (0.23), 30 21034ATins/del (rs34669957) AT/AT 1.27 (0.33), 157 0.36 R219K (rs2230806) R/R 1.26 (0.30), 129 0.58 AT/ 2 1.21 (0.26), 89 R/K 1.23 (0.30), 104 2/2 1.24 (0.29), 14 K/K 1.25 (0.34), 18 2940T.G (rs2980083) T/T 1.24 (0.32), 70 0.77 V825I (rs28587567) V/V 1.23 (0.30), 232 0.01 T/G 1.24 (0.31), 117 V/I 1.34 (0.31), 26 G/G 1.22 (0.29), 53 I/I 1.54 (0.07), 3 2803G.A (rs10991419) G/G 1.26 (0.31), 208 0.40 I883M (rs4149313) I/I 1.20 (0.27), 172 0.0004 G/A 1.20 (0.28), 51 I/M 1.39 (0.36), 56 A/A 1.32 (0.47), 4 M/M 1.34 (0.34), 9 R1587K (rs2230808) R/R 1.27 (0.31), 142 0.39 R/K 1.24 (0.30), 84 K/K 1.18 (0.20), 9 Figure 2. Login to comment
120 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:120:1563
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:120:1219
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:120:1391
status: NEW
view ABCA1 p.Val825Ile details
Plasma HDL levels (mmol/L) according to ABCA1 genotypes Polymorphism Genotype Mean (SD), n P-value Polymorphism Genotype Mean (SD), n P-value 21801C.T (rs2487046) C/C 1.26 (0.31), 93 0.88 2565C.T (rs2422493) C/C 1.25 (0.32), 81 0.78 C/T 1.23 (0.31), 122 C/T 1.24 (0.30), 137 T/T 1.29 (0.33), 40 T/T 1.23 (0.28), 54 21652A.G (rs10124728) A/A 1.22 (0.29), 99 0.37 2407G.C (rs2246293) G/G 1.24 (0.32), 76 0.80 A/G 1.25 (0.31), 131 G/C 1.23 (0.30), 123 G/G 1.29 (0.35), 30 C/C 1.24 (0.27), 52 21506G.C (rs2487047) G/G 1.26 (0.33), 156 0.47 2302C.T (rs2246298) C/C 1.26 (0.32), 165 0.67 G/C 1.21 (0.28), 90 C/T 1.21 (0.27), 68 C/C 1.24 (0.29), 14 T/T 1.27 (0.26), 13 21395C.T (rs2487048) C/C 1.26 (0.31), 96 0.83 2278G.C (rs1800976) G/G 1.25 (0.32), 80 0.79 C/T 1.22 (0.29), 115 G/C 1.24 (0.30), 126 T/T 1.26 (0.32), 45 C/C 1.23 (0.28), 51 21252G.A G/G 1.23 (0.29), 193 0.13 299G.C (rs2740483) G/G 1.25 (0.29), 139 0.83 G/A 1.27 (0.29), 44 G/C 1.23 (0.31), 93 A/A 1.27 (0.34), 7 C/C 1.30 (0.28), 21 21217C.T (rs10991420) C/C 1.25 (0.32), 202 0.64 214C.T (rs1800977) C/C 1.25 (0.31), 126 0.59 C/T 1.23 (0.28), 56 C/T 1.25 (0.32), 99 T/T 0.97 (2), 1 T/T 1.20 (0.23), 30 21034ATins/del (rs34669957) AT/AT 1.27 (0.33), 157 0.36 R219K (rs2230806) R/R 1.26 (0.30), 129 0.58 AT/ 2 1.21 (0.26), 89 R/K 1.23 (0.30), 104 2/2 1.24 (0.29), 14 K/K 1.25 (0.34), 18 2940T.G (rs2980083) T/T 1.24 (0.32), 70 0.77 V825I (rs28587567) V/V 1.23 (0.30), 232 0.01 T/G 1.24 (0.31), 117 V/I 1.34 (0.31), 26 G/G 1.22 (0.29), 53 I/I 1.54 (0.07), 3 2803G.A (rs10991419) G/G 1.26 (0.31), 208 0.40 I883M (rs4149313) I/I 1.20 (0.27), 172 0.0004 G/A 1.20 (0.28), 51 I/M 1.39 (0.36), 56 A/A 1.32 (0.47), 4 M/M 1.34 (0.34), 9 R1587K (rs2230808) R/R 1.27 (0.31), 142 0.39 R/K 1.24 (0.30), 84 K/K 1.18 (0.20), 9 Figure 2. Login to comment
126 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:126:612
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:126:573
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:126:592
status: NEW
view ABCA1 p.Val825Ile details
Single nucleotide polymorphism selection and determination of genotypes The subjects of this study were genotyped for 15 common SNPs in the proximal promoter region, i.e. 21801C.T (rs2487046), 21652A.G (rs10124728), 21506G.C (rs2487047), 21395C.T (rs2487048), 21252G.A (rs number unavailable), 21217C.T (rs10991420), 21034A Tins/del (rs34669957), 2940T.G (rs2980083), 2803G.A (rs10991419), 2565C.T (rs2422493), 2407G.C (rs2246293), 2302C.T (rs2246298), 2278G.C (rs1800976), 299G.C (rs2740483) and 214C.T (rs1800977), respectively, and four common non-synonymous SNPs, i.e. R219K (rs2230806), V825I (rs28587567), I883M (rs4149313) and R1587K (rs2230808) (Fig. 1). Login to comment
127 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 17412755:127:612
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17412755:127:573
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val825Ile
X
ABCA1 p.Val825Ile 17412755:127:592
status: NEW
view ABCA1 p.Val825Ile details
Single nucleotide polymorphism selection and determination of genotypes The subjects of this study were genotyped for 15 common SNPs in the proximal promoter region, i.e. 21801C.T (rs2487046), 21652A.G (rs10124728), 21506G.C (rs2487047), 21395C.T (rs2487048), 21252G.A (rs number unavailable), 21217C.T (rs10991420), 21034A Tins/del (rs34669957), 2940T.G (rs2980083), 2803G.A (rs10991419), 2565C.T (rs2422493), 2407G.C (rs2246293), 2302C.T (rs2246298), 2278G.C (rs1800976), 299G.C (rs2740483) and 214C.T (rs1800977), respectively, and four common non-synonymous SNPs, i.e. R219K (rs2230806), V825I (rs28587567), I883M (rs4149313) and R1587K (rs2230808) (Fig. 1). Login to comment
145 ABCA1 p.Leu1379Phe
X
ABCA1 p.Leu1379Phe 17412755:145:122
status: NEW
view ABCA1 p.Leu1379Phe details
ABCA1 p.Val1704Asp
X
ABCA1 p.Val1704Asp 17412755:145:111
status: NEW
view ABCA1 p.Val1704Asp details
Cultured COS-7 cells were transfected with each of the above plasmids or a plasmid expressing an ABCA1 mutant (V1704D and L1379F) described in Albrecht et al. (24). Login to comment
146 ABCA1 p.Leu1379Phe
X
ABCA1 p.Leu1379Phe 17412755:146:122
status: NEW
view ABCA1 p.Leu1379Phe details
ABCA1 p.Val1704Asp
X
ABCA1 p.Val1704Asp 17412755:146:111
status: NEW
view ABCA1 p.Val1704Asp details
Cultured COS-7 cells were transfected with each of the above plasmids or a plasmid expressing an ABCA1 mutant (V1704D and L1379F) described in Albrecht et al. (24). Login to comment
171 ABCA1 p.Leu1379Phe
X
ABCA1 p.Leu1379Phe 17412755:171:36
status: NEW
view ABCA1 p.Leu1379Phe details
ABCA1 p.Val1704Asp
X
ABCA1 p.Val1704Asp 17412755:171:25
status: NEW
view ABCA1 p.Val1704Asp details
K.O. refers to an ABCA1 (V1704D and L1379F) mutant which had previously been shown to result in complete loss of ABCA1 function (24). Login to comment
172 ABCA1 p.Leu1379Phe
X
ABCA1 p.Leu1379Phe 17412755:172:36
status: NEW
view ABCA1 p.Leu1379Phe details
ABCA1 p.Val1704Asp
X
ABCA1 p.Val1704Asp 17412755:172:25
status: NEW
view ABCA1 p.Val1704Asp details
K.O. refers to an ABCA1 (V1704D and L1379F) mutant which had previously been shown to result in complete loss of ABCA1 function (24). Login to comment