PMID: 15520451

Plat J, Bragt MC, Mensink RP
Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers.
J Lipid Res. 2005 Jan;46(1):68-75. Epub 2004 Nov 1., [PubMed]
Sentences
No. Mutations Sentence Comment
3 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:3:118
status: VERIFIED
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Cholesterol-standardized serum campesterol and sitosterol concentrations were significantly associated with the ABCG8 T400K genotype, as were changes in serum plant sterol concentrations after consumption of plant stanols. Login to comment
43 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:43:92
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:43:62
status: NEW
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These criteria resulted in the selection of three SNPs: ABCG8 T400K, ABCG8 A632V, and ABCG5 Q604E. Login to comment
44 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:44:92
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:44:62
status: VERIFIED
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These criteria resulted in the selection of three SNPs: ABCG8 T400K, ABCG8 A632V, and ABCG5 Q604E. Login to comment
53 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:53:242
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:53:196
status: NEW
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Statistics Because of the limited number of subjects, and because plant sterol concentrations were not significantly different, heterozygous and homozygous carriers of the genetic variants [ABCG8 T400K (TKKK), ABCG8 A632V (VVVA), and ABCG5 Q604E (QEEE)] were combined before data analysis. Login to comment
54 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:54:242
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:54:254
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:54:196
status: VERIFIED
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Statistics Because of the limited number of subjects, and because plant sterol concentrations were not significantly different, heterozygous and homozygous carriers of the genetic variants [ABCG8 T400K (TKϩKK), ABCG8 A632V (VVϩVA), and ABCG5 Q604E (QEϩEE)] were combined before data analysis. Login to comment
60 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:60:109
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:60:401
status: NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:60:62
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:60:191
status: NEW
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Frequency distribution of the different genotypes in exons 8 (T400K) and 13 (A632V) of ABCG8 and in exon 13 (Q604E) of ABCG5 Subjects All Control Group Experimental Group All 112 42 70 ABCG8 T400K TT 77 (68.7) 30 (71.4) 47 (67.1) TK 31 (27.7) 11 (26.2) 20 (28.6) KK 4 (3.6) 1 (2.4) 3 (4.3) ABCG8 A632V AA 70 (62.5) 23 (54.8) 47 (67.1) VA 37 (33.0) 17 (40.5) 20 (28.6) VV 5 (4.5) 2 (4.8) 3 (4.3) ABCG5 Q604E QQ 81 (72.3) 33 (78.6) 48 (68.6) QE 29 (25.9) 9 (21.4) 20 (28.6) EE 2 (1.8) 0 (0) 2 (2.9) Values shown are absolute frequencies (with relative frequencies in parentheses). Login to comment
61 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:61:109
status: VERIFIED
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:61:401
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:61:62
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:61:191
status: VERIFIED
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Frequency distribution of the different genotypes in exons 8 (T400K) and 13 (A632V) of ABCG8 and in exon 13 (Q604E) of ABCG5 Subjects All Control Group Experimental Group All 112 42 70 ABCG8 T400K TT 77 (68.7) 30 (71.4) 47 (67.1) TK 31 (27.7) 11 (26.2) 20 (28.6) KK 4 (3.6) 1 (2.4) 3 (4.3) ABCG8 A632V AA 70 (62.5) 23 (54.8) 47 (67.1) VA 37 (33.0) 17 (40.5) 20 (28.6) VV 5 (4.5) 2 (4.8) 3 (4.3) ABCG5 Q604E QQ 81 (72.3) 33 (78.6) 48 (68.6) QE 29 (25.9) 9 (21.4) 20 (28.6) EE 2 (1.8) 0 (0) 2 (2.9) Values shown are absolute frequencies (with relative frequencies in parentheses). Login to comment
71 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:71:109
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:71:62
status: NEW
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RESULTS Frequency distributions for the genotypes in exons 8 (T400K) and 13 (A632V) of ABCG8 and in exon 13 (Q604E) of ABCG5 are shown in Table 2. Login to comment
72 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:72:109
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:72:62
status: VERIFIED
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RESULTS Frequency distributions for the genotypes in exons 8 (T400K) and 13 (A632V) of ABCG8 and in exon 13 (Q604E) of ABCG5 are shown in Table 2. Login to comment
79 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:79:100
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:79:204
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:79:243
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:79:53
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:79:165
status: NEW
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Linkage disequilibrium between genotypes in exons 8 (T400K) and 13 (A632V) of ABCG8 and in exon 13 (Q604E) of ABCG5 Locus 1 Locus 2 D 95% Confidence Interval ABCG8 T400K ABCG8 A632V 0.29 0.03-0.76 ABCG5 Q604E 0.81 0.06-0.97 ABCG8 A632V ABCG5 Q604E 0.0 0.01-0.22 D and the corresponding 95% confidence intervals were calculated by using all 112 subjects included in the study. Login to comment
80 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:80:100
status: VERIFIED
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:80:204
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:80:210
status: VERIFIED
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:80:243
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:80:249
status: VERIFIED
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:80:643
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:80:1292
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:80:53
status: VERIFIED
view ABCG8 p.Thr400Lys details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:80:165
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:80:171
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:80:319
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:80:936
status: NEW
view ABCG8 p.Thr400Lys details
Linkage disequilibrium between genotypes in exons 8 (T400K) and 13 (A632V) of ABCG8 and in exon 13 (Q604E) of ABCG5 Locus 1 Locus 2 DЈ 95% Confidence Interval ABCG8 T400K ABCG8 A632V 0.29 0.03-0.76 ABCG5 Q604E 0.81 0.06-0.97 ABCG8 A632V ABCG5 Q604E 0.0 -0.01-0.22 DЈ and the corresponding 95% confidence intervals were calculated by using all 112 subjects included in the study. Login to comment
81 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:81:643
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:81:812
status: VERIFIED
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:81:1292
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:81:1696
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:81:0
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:81:319
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:81:356
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:81:936
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:81:1208
status: VERIFIED
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TABLE 4. Relationships between genetic polymorphisms in ABCG8 and ABCG5 with absolute and cholesterol-standardized serum noncholesterol sterol concentrations Subjects Campesterol Sitosterol Lathosterol Campestanol Sitostanol Absolute concentrations (␮mol/l) All 15.8 Ϯ 5.3 6.0 Ϯ 2.4 5.2 Ϯ 2.1 0.5 Ϯ 0.3 0.4 Ϯ 0.2 ABCG8 T400K TT 16.9 Ϯ 5.5 6.6 Ϯ 2.6 5.0 Ϯ 2.1 0.5 Ϯ 0.4 0.4 Ϯ 0.2 TK/KK 13.5 Ϯ 3.8 4.8 Ϯ 1.4 5.7 Ϯ 2.1 0.5 Ϯ 0.3 0.4 Ϯ 0.2 P value Ͻ0.001 Ͻ0.001 0.070 0.887 0.675 ABCG8 A632V AA 16.3 Ϯ 5.6 6.2 Ϯ 2.6 5.1 Ϯ; 2.0 0.5 Ϯ 0.3 0.4 Ϯ 0.2 VV/VA 15.1 Ϯ 4.8 5.7 Ϯ 2.1 5.4 Ϯ 2.4 0.6 Ϯ 0.4 0.4 Ϯ 0.2 P value 0.280 0.266 0.516 0.349 0.759 ABCG5 Q604E QQ 16.3 Ϯ 5.4 6.3 Ϯ 2.5 5.1 Ϯ 2.1 0.5 Ϯ 0.3 0.4 Ϯ 0.2 QE/EE 14.6 Ϯ 5.0 5.4 Ϯ 2.2 5.4 Ϯ 2.3 0.6 Ϯ 0.4 0.4 Ϯ 0.2 P value 0.125 0.093 0.517 0.043 0.768 Cholesterol-standardized concentrations (102 ϫ ␮mol/mmol cholesterol) All 303.4 Ϯ 98.0 115.0 Ϯ 44.5 97.3 Ϯ 33.5 9.8 Ϯ 6.6 7.6 Ϯ 4.3 ABCG8 T400K TT 324.2 Ϯ 98.5 125.2 Ϯ 45.8 93.2 Ϯ 35.0 9.6 Ϯ 6.8 7.5 ee; 4.4 TK/KK 257.7 Ϯ 80.8 92.4 Ϯ 31.9 106.4 Ϯ 28.4 10.2 Ϯ 6.1 7.7 Ϯ 3.9 P value Ͻ0.001 Ͻ0.001 0.053 0.636 0.862 ABCG8 A632V AA 305.8 Ϯ 95.3 117.3 Ϯ 47.3 95.2 Ϯ 32.2 9.3 Ϯ 6.1 7.6 Ϯ 4.2 VV/VA 299.3 Ϯ 103.3 111.0 Ϯ 39.8 101.0 Ϯ 35.8 10.6 Ϯ 7.2 7.6 Ϯ 4.4 P value 0.736 0.467 0.377 0.332 0.938 ABCG5 Q604E QQ 310.5 Ϯ 98.8 118.3 Ϯ 43.7 95.3 Ϯ 34.8 8.9 Ϯ 5.7 7.6 Ϯ 4.3 QE/EE 284.8 Ϯ 94.9 106.2 Ϯ 46.2 102.7 Ϯ 29.9 11.9 Ϯ 8.1 7.6 Ϯ 4.2 P value 0.216 0.198 0.298 0.029 0.987 Values shown are means Ϯ SD and were analyzed after a 4-week period of consumption of rapeseed oil-based margarine and shortening. Login to comment
82 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:82:0
status: VERIFIED
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T400K genotype (Table 4). Login to comment
86 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:86:37
status: NEW
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Subjects with the QQ genotype (ABCG5 Q604E) showed significantly higher serum LDL cholesterol concentrations compared with QE/EE subjects (Table 5). Login to comment
87 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:87:37
status: VERIFIED
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Subjects with the QQ genotype (ABCG5 Q604E) showed significantly higher serum LDL cholesterol concentrations compared with QE/EE subjects (Table 5). Login to comment
91 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:91:129
status: NEW
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Changes in cholesterol-standardized serum campesterol and sitosterol concentrations were significantly associated with the ABCG8 T400K polymorphism (Table 6, Fig. 1). Login to comment
92 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:92:129
status: VERIFIED
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Changes in cholesterol-standardized serum campesterol and sitosterol concentrations were significantly associated with the ABCG8 T400K polymorphism (Table 6, Fig. 1). Login to comment
94 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:94:105
status: NEW
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Additional analysis to evaluate the association between the three different genotype groups of the ABCG8 T400K polymorphism (TT, TK, and KK) with changes in serum plant sterol and lipoprotein concentrations suggested an allele-dependent relation for both cholesterol-standardized serum campesterol and sitosterol concentrations (Fig. 1). Login to comment
95 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:95:105
status: VERIFIED
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Additional analysis to evaluate the association between the three different genotype groups of the ABCG8 T400K polymorphism (TT, TK, and KK) with changes in serum plant sterol and lipoprotein concentrations suggested an allele-dependent relation for both cholesterol-standardized serum campesterol and sitosterol concentrations (Fig. 1). Login to comment
96 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:96:253
status: NEW
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Cholesterol-standardized campesterol (A), sitosterol (B), and LDL cholesterol (C) concentrations at the end of the run-in period (upper panels) and the change during the stanol ester feeding period (lower panels) in the different genotypes of the ABCG8 T400K polymorphism. Login to comment
97 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:97:253
status: VERIFIED
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Cholesterol-standardized campesterol (A), sitosterol (B), and LDL cholesterol (C) concentrations at the end of the run-in period (upper panels) and the change during the stanol ester feeding period (lower panels) in the different genotypes of the ABCG8 T400K polymorphism. Login to comment
100 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:100:468
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:100:230
status: NEW
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TABLE 5. Relationships between genetic polymorphisms in ABCG8 and ABCG5 with serum lipid and lipoprotein concentrations Subjects LDL Cholesterol HDL Cholesterol Triacylglycerol mmol/l All 2.95  0.78 1.59  0.38 0.92  0.52 ABCG8 T400K TT 2.97  0.74 1.59  0.37 0.85  0.47 TK/KK 2.89  0.86 1.60  0.40 1.08  0.58 P value 0.622 0.976 0.025 ABCG8 A632V AA 3.03  0.78 1.58  0.39 0.91  0.48 VV/VA 2.81  0.77 1.61  0.36 0.93  0.58 P value 0.137 0.666 0.883 ABCG5 Q604E QQ 3.04  0.75 1.56  0.35 0.89  0.45 QE/EE 2.70  0.81 1.68  0.43 0.99  0.65 P value 0.039 0.145 0.342 Values shown are means  SD and were analyzed after a 4-week period of consumption of rapeseed oil-based margarine and shortening. Login to comment
101 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:101:468
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:101:558
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:101:230
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:101:248
status: VERIFIED
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TABLE 5. Relationships between genetic polymorphisms in ABCG8 and ABCG5 with serum lipid and lipoprotein concentrations Subjects LDL Cholesterol HDL Cholesterol Triacylglycerol mmol/l All 2.95 Ϯ 0.78 1.59 Ϯ 0.38 0.92 Ϯ 0.52 ABCG8 T400K TT 2.97 Ϯ 0.74 1.59 Ϯ 0.37 0.85 Ϯ 0.47 TK/KK 2.89 Ϯ 0.86 1.60 Ϯ 0.40 1.08 Ϯ 0.58 P value 0.622 0.976 0.025 ABCG8 A632V AA 3.03 Ϯ 0.78 1.58 Ϯ 0.39 0.91 Ϯ 0.48 VV/VA 2.81 Ϯ 0.77 1.61 Ϯ 0.36 0.93 Ϯ 0.58 P value 0.137 0.666 0.883 ABCG5 Q604E QQ 3.04 Ϯ 0.75 1.56 Ϯ 0.35 0.89 Ϯ 0.45 QE/EE 2.70 Ϯ 0.81 1.68 Ϯ 0.43 0.99 Ϯ 0.65 P value 0.039 0.145 0.342 Values shown are means Ϯ SD and were analyzed after a 4-week period of consumption of rapeseed oil-based margarine and shortening. Login to comment
102 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:102:99
status: NEW
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Changes in serum campesterol concentrations showed a comparable association pattern with the ABCG8 T400K genotype. Login to comment
103 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:103:99
status: VERIFIED
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Changes in serum campesterol concentrations showed a comparable association pattern with the ABCG8 T400K genotype. Login to comment
113 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:113:1012
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:113:1804
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:113:686
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:113:1452
status: NEW
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However, if ABCG8 transports the same proportion of plant sterols out of the enterocytes and hepatocytes into the lumen and bile, respectively, as before plant stanol ester TABLE 6. Relationships between genetic polymorphisms in ABCG8 and ABCG5 with changes in absolute and cholesterol-standardized serum noncholesterol sterol concentrations after consumption of plant stanol esters Subjects Campesterol Sitosterol Lathosterol Campestanol Sitostanol Absolute concentrations (mol/l) Experimental group Control 0.5  2.2 0.5  1.2 0.0  1.1 0.0  0.4 0.0  0.2 Stanol 6.3  3.9 3.0  2.1 0.2  1.4 0.3  0.4 0.3  0.2 P value 0.001 0.001 0.001 0.001 0.001 Genotype group ABCG8 T400K TT 7.0  4.4 3.4  2.3 0.2  1.2 0.2  0.4 0.3  0.2 TK/KK 4.9  2.4 2.1  0.9 0.2  1.7 0.3  0.4 0.3  0.2 P value 0.042 0.017 0.989 0.526 0.967 ABCG8 A632V AA 6.5  4.5 2.9  2.3 0.3  1.1 0.3  0.4 0.3  0.2 VV/VA 6.0  2.7 3.0  1.6 0.2  1.3 0.2  0.4 0.3  0.2 P value 0.598 0.831 0.836 0.832 0.395 ABCG5 Q604E QQ 6.6  4.3 3.1  2.3 0.1  1.5 0.2  0.4 0.3  0.2 QE/EE 5.8  3.1 2.7  1.6 0.6  1.2 0.2  0.4 0.4  0.2 P value 0.448 0.413 0.185 0.956 0.097 Cholesterol-standardized concentrations (102 mol/mmol cholesterol) Experimental group Control 5.9  39.2 7.8  22.4 0.5  19.5 0.6  7.2 0.4  4.0 Stanol 103.1  70.6 49.3  34.9 17.4  22.2 6.3  8.1 8.2  4.5 P value 0.001 0.001 0.001 0.001 0.001 Genotype group ABCG8 T400K TT 116.7  76.5 57.1  38.3 16.5  19.8 6.1  8.3 8.4  4.5 TK/KK 75.4  46.9 33.5  19.0 19.2  26.7 6.8  7.6 7.7  4.6 P value 0.020 0.007 0.624 0.737 0.541 ABCG8 A632V AA 107.3  75.4 49.3  38.8 16.0  23.9 6.1  8.3 8.3  4.4 VV/VA 94.6  60.3 49.4  25.9 20.2  18.3 6.7  7.8 8.0  4.9 P value 0.483 0.998 0.465 0.756 0.780 ABCG5 Q604E QQ 106.3  75.6 50.9  36.9 14.7  21.3 6.3  8.2 7.6  4.2 QE/EE 96.1  59.2 46.0  30.6 23.2  23.5 6.3  7.9 9.5  4.9 P value 0.579 0.596 0.140 0.997 0.087 Values shown are means  SD. Changes in all parameters were calculated as the difference between values at the end of the run-in period (weeks 3 and 4) and the experimental period (weeks 11 and 12). Login to comment
114 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:114:1012
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:114:1229
status: VERIFIED
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:114:1804
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:114:2304
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:114:686
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:114:783
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:114:1452
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:114:1832
status: VERIFIED
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However, if ABCG8 transports the same proportion of plant sterols out of the enterocytes and hepatocytes into the lumen and bile, respectively, as before plant stanol ester TABLE 6. Relationships between genetic polymorphisms in ABCG8 and ABCG5 with changes in absolute and cholesterol-standardized serum noncholesterol sterol concentrations after consumption of plant stanol esters Subjects Campesterol Sitosterol Lathosterol Campestanol Sitostanol Absolute concentrations (␮mol/l) Experimental group Control -0.5 Ϯ 2.2 -0.5 Ϯ 1.2 0.0 Ϯ 1.1 -0.0 Ϯ 0.4 0.0 Ϯ 0.2 Stanol -6.3 Ϯ 3.9 -3.0 Ϯ 2.1 0.2 Ϯ 1.4 0.3 Ϯ 0.4 0.3 Ϯ 0.2 P value Ͻ0.001 Ͻ0.001 Ͻ0.001 Ͻ0.001 Ͻ0.001 Genotype group ABCG8 T400K TT -7.0 Ϯ 4.4 -3.4 Ϯ 2.3 0.2 Ϯ 1.2 0.2 Ϯ 0.4 0.3 Ϯ 0.2 TK/KK -4.9 Ϯ 2.4 -2.1 Ϯ 0.9 0.2 Ϯ 1.7 0.3 Ϯ 0.4 0.3 Ϯ 0.2 P value 0.042 0.017 0.989 0.526 0.967 ABCG8 A632V AA -6.5 Ϯ 4.5 -2.9 Ϯ 2.3 0.3 Ϯ 1.1 0.3 Ϯ 0.4 0.3 Ϯ 0.2 VV/VA -6.0 Ϯ 2.7 -3.0 Ϯ 1.6 0.2 Ϯ 1.3 0.2 Ϯ 0.4 0.3 Ϯ 0.2 P value 0.598 0.831 0.836 0.832 0.395 ABCG5 Q604E QQ -6.6 Ϯ 4.3 -3.1 Ϯ 2.3 0.1 Ϯ 1.5 0.2 Ϯ 0.4 0.3 Ϯ 0.2 QE/EE -5.8 Ϯ 3.1 -2.7 Ϯ 1.6 0.6 Ϯ 1.2 0.2 Ϯ 0.4 0.4 Ϯ 0.2 P value 0.448 0.413 0.185 0.956 0.097 Cholesterol-standardized concentrations (102 ϫ ␮mol/mmol cholesterol) Experimental group Control -5.9 Ϯ 39.2 -7.8 Ϯ 22.4 0.5 Ϯ 19.5 -0.6 Ϯ 7.2 0.4 Ϯ 4.0 Stanol -103.1 Ϯ 70.6 -49.3 Ϯ 34.9 17.4 Ϯ 22.2 6.3 Ϯ 8.1 8.2 Ϯ 4.5 P value Ͻ0.001 Ͻ0.001 Ͻ0.001 Ͻ0.001 Ͻ;0.001 Genotype group ABCG8 T400K TT -116.7 Ϯ 76.5 -57.1 Ϯ 38.3 16.5 Ϯ 19.8 6.1 Ϯ 8.3 8.4 Ϯ 4.5 TK/KK -75.4 Ϯ 46.9 -33.5 Ϯ 19.0 19.2 Ϯ 26.7 6.8 Ϯ 7.6 7.7 Ϯ 4.6 P value 0.020 0.007 0.624 0.737 0.541 ABCG8 A632V AA -107.3 Ϯ 75.4 -49.3 Ϯ 38.8 16.0 Ϯ 23.9 6.1 Ϯ 8.3 8.3 Ϯ 4.4 VV/VA -94.6 Ϯ 60.3 -49.4 Ϯ 25.9 20.2 Ϯ 18.3 6.7 Ϯ 7.8 8.0 Ϯ 4.9 P value 0.483 0.998 0.465 0.756 0.780 ABCG5 Q604E QQ -106.3 Ϯ 75.6 -50.9 Ϯ 36.9 14.7 Ϯ 21.3 6.3 Ϯ 8.2 7.6 Ϯ 4.2 QE/EE -96.1 Ϯ 59.2 -46.0 Ϯ 30.6 23.2 Ϯ 23.5 6.3 Ϯ 7.9 9.5 Ϯ 4.9 P value 0.579 0.596 0.140 0.997 0.087 Values shown are means Ϯ SD. Changes in all parameters were calculated as the difference between values at the end of the run-in period (weeks 3 and 4) and the experimental period (weeks 11 and 12). Login to comment
115 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:115:75
status: NEW
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More detailed studies on the effects of the functional consequences of the T400K polymorphism on plant sterol metabolism are needed, which can be obtained through the development of specifically designed cell or transgenic animal models carrying this genetic variation. Login to comment
116 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:116:75
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:116:128
status: NEW
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More detailed studies on the effects of the functional consequences of the T400K polymorphism on plant sterol metabolism are needed, which can be obtained through the development of specifically designed cell or transgenic animal models carrying this genetic variation. Login to comment
117 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:117:128
status: VERIFIED
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Concerning the potential functionality of the different genotypes, it should be remarked that the polymorphic site of the ABCG8 T400K polymorphisms is located in a coding region but is predicted not to contain a transmembrane domain, a signature, or a Walker motif (15). Login to comment
131 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:131:57
status: NEW
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Weggemans et al. (30) found that subjects with the ABCG5 Q604E EE genotype had higher serum cholesterol concentrations than carriers with the Q allele. Login to comment
132 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:132:57
status: VERIFIED
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Weggemans et al. (30) found that subjects with the ABCG5 Q604E EE genotype had higher serum cholesterol concentrations than carriers with the Q allele. Login to comment
134 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 15520451:134:90
status: NEW
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In a recent study, a statistically significant association was observed between the ABCG8 D19H polymorphism and the proportional reduction in LDL cholesterol during atorvastatin treatment (31). Login to comment
135 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 15520451:135:90
status: VERIFIED
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In a recent study, a statistically significant association was observed between the ABCG8 D19H polymorphism and the proportional reduction in LDL cholesterol during atorvastatin treatment (31). Login to comment
138 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:138:38
status: NEW
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Furthermore, the observation that the T400K polymorphism in ABCG8 is associated with changes in plant sterol levels with stanol ester treatment, but not with changes in the cholesterol levels, suggests that individual variation in the cholesterol-lowering efficacy of plant stanols is not strongly determined by the magnitude of the reduction in intestinal cholesterol absorption achieved. Login to comment
139 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:139:38
status: VERIFIED
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Furthermore, the observation that the T400K polymorphism in ABCG8 is associated with changes in plant sterol levels with stanol ester treatment, but not with changes in the cholesterol levels, suggests that individual variation in the cholesterol-lowering efficacy of plant stanols is not strongly determined by the magnitude of the reduction in intestinal cholesterol absorption achieved. Login to comment
141 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:141:595
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:141:347
status: NEW
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TABLE 7. Relationships between genetic polymorphisms in ABCG8 and ABCG5 with changes in lipid and lipoprotein concentrations after consumption of plant stanol esters Subjects LDL Cholesterol HDL Cholesterol Triacylglycerol Control 0.06  0.36 0.01  0.16 0.02  0.23 Stanols 0.42  0.31 0.01  0.12 0.04  0.30 P value 0.001 0.903 0.272 ABCG8 T400K TT 0.43  0.32 0.02  0.11 0.01  0.22 TK/KK 0.38  0.30 0.01  0.13 0.09  0.42 P value 0.531 0.345 0.304 ABCG8 A632V AA 0.42  0.32 0.01  0.12 0.00  0.25 VV/VA 0.41  0.29 0.00  0.13 0.10  0.38 P value 0.935 0.588 0.199 ABCG5 Q604E QQ 0.44  0.30 0.01  0.10 0.01  0.34 QE/EE 0.36  0.34 0.01  0.16 0.09  0.18 P value 0.297 0.368 0.357 Values shown are means  SD. Changes in all parameters were calculated as the difference between values at the end of the run-in period (weeks 3 and 4) and the experimental period (weeks 11 and 12). Login to comment
142 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:142:595
status: NEW
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ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 15520451:142:709
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:142:347
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 15520451:142:389
status: VERIFIED
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TABLE 7. Relationships between genetic polymorphisms in ABCG8 and ABCG5 with changes in lipid and lipoprotein concentrations after consumption of plant stanol esters Subjects LDL Cholesterol HDL Cholesterol Triacylglycerol Control -0.06 Ϯ 0.36 0.01 Ϯ 0.16 0.02 Ϯ 0.23 Stanols -0.42 Ϯ 0.31 0.01 Ϯ 0.12 -0.04 Ϯ 0.30 P value Ͻ0.001 0.903 0.272 ABCG8 T400K TT -0.43 Ϯ 0.32 0.02 Ϯ 0.11 -0.01 Ϯ 0.22 TK/KK -0.38 Ϯ 0.30 -0.01 Ϯ 0.13 -0.09 Ϯ 0.42 P value 0.531 0.345 0.304 ABCG8 A632V AA -0.42 Ϯ 0.32 0.01 Ϯ 0.12 -0.00 Ϯ 0.25 VV/VA -0.41 Ϯ 0.29 -0.00 Ϯ 0.13 -0.10 Ϯ 0.38 P value 0.935 0.588 0.199 ABCG5 Q604E QQ -0.44 Ϯ 0.30 0.01 Ϯ 0.10 -0.01 Ϯ 0.34 QE/EE -0.36 Ϯ 0.34 -0.01 Ϯ 0.16 -0.09 Ϯ 0.18 P value 0.297 0.368 0.357 Values shown are means Ϯ SD. Changes in all parameters were calculated as the difference between values at the end of the run-in period (weeks 3 and 4) and the experimental period (weeks 11 and 12). Login to comment