ABCMdb

PMID: 18850127

Zhao HL, Houweling AH, Vanstone CA, Jew S, Trautwein EA, Duchateau GS, Jones PJ
Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men.
Lipids. 2008 Dec;43(12):1155-64. Epub 2008 Oct 11., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCG8 p.Asp19His Berge et al. observed that lower baseline PS concentrations were associated with two common sequence variations, 145 G [ C (D19H) and 1289 C [ A (T400 K) of the ABCG8 half-transporter gene [11]. Login to comment 20 ABCG8 p.Asp19His Berge et al. observed that lower baseline PS concentrations were associated with two common sequence variations, 145 G [ C (D19H) and 1289 C [ A (T400 K) of the ABCG8 half-transporter gene [11]. Login to comment 21 ABCG8 p.Asp19His Further, variations in D19H may be associated with responsiveness to atorvastatin therapy [6]. Login to comment 22 ABCG8 p.Asp19His Further, variations in D19H may be associated with responsiveness to atorvastatin therapy [6]. Login to comment 23 ABCG8 p.Asp19His Berge et al. observed that lower baseline PS concentrations were associated with two common sequence variations, 145 G [ C (D19H) and 1289 C [ A (T400 K) of the ABCG8 half-transporter gene [11]. Login to comment 25 ABCG8 p.Asp19His Further, variations in D19H may be associated with responsiveness to atorvastatin therapy [6]. Login to comment 47 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Analyses of ABCG5/G8 and NPC1L1 Genotype SNPs The ABCG5/G8 polymorphisms, 1950 G [ C (Q604E), 145 G [ C (D19H), 1289 C [ A (T400 K) and 1572 (A632 V), as well as the NPC1L1 polymorphisms, 872 C [ G (L272L) and 3929 G [ A (Y1291Y), were screened from the published SNP data demonstrating an established functional significance for cholesterol modulation. Login to comment 48 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Analyses of ABCG5/G8 and NPC1L1 Genotype SNPs The ABCG5/G8 polymorphisms, 1950 G [ C (Q604E), 145 G [ C (D19H), 1289 C [ A (T400 K) and 1572 (A632 V), as well as the NPC1L1 polymorphisms, 872 C [ G (L272L) and 3929 G [ A (Y1291Y), were screened from the published SNP data demonstrating an established functional significance for cholesterol modulation. Login to comment 51 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Analyses of ABCG5/G8 and NPC1L1 Genotype SNPs The ABCG5/G8 polymorphisms, 1950 G [ C (Q604E), 145 G [ C (D19H), 1289 C [ A (T400 K) and 1572 (A632 V), as well as the NPC1L1 polymorphisms, 872 C [ G (L272L) and 3929 G [ A (Y1291Y), were screened from the published SNP data demonstrating an established functional significance for cholesterol modulation. Login to comment 77 ABCG8 p.Asp19His Relation of ABCG5/G8 Gene Polymorphism Variations with Responsiveness to PS Intake The genotype frequencies of ABCG5/G8 common polymorphisms, T400 K, D19H and A632 V, were identified to abide with Hardy-Weinberg equilibrium [24]. Login to comment 78 ABCG8 p.Asp19His Relation of ABCG5/G8 Gene Polymorphism Variations with Responsiveness to PS Intake The genotype frequencies of ABCG5/G8 common polymorphisms, T400 K, D19H and A632 V, were identified to abide with Hardy-Weinberg equilibrium [24]. Login to comment 81 ABCG8 p.Asp19His Relation of ABCG5/G8 Gene Polymorphism Variations with Responsiveness to PS Intake The genotype frequencies of ABCG5/G8 common polymorphisms, T400 K, D19H and A632 V, were identified to abide with Hardy-Weinberg equilibrium [24]. Login to comment 98 ABCG8 p.Asp19His L_PSb ABCG8 A632 V AA (68) 27 (59%)c 19 (41%)c 46 10 (45%)c 12 (55%)c 22 37 (54%)c 31 (46%)c VA (11) 2 (40%)c 3 (60%)c 5 2 (33%)c 4 (67%)c 6 4 (36%)c 7 (64%)c T400 K* TT (51) 20 (59%)c 14 (41%)c 34 11 (65%)c 6 (35%)c 17 31 (61%)c 20 (39%)c TK/KK (28) 9 (53%)c 8 (47%)c 17 1 (9%)c 10 (91%)c 11 11 (39%)c 17 (61%)c D19H DD (70) 25 (57%) 19 (43%) 44 12 (46%) 14 (54%) 26 37 (53%) 33 (47%) DH (9) 4 (57%) 3 (43%) 7 0 (0 %) 2 (100%) 2 4 (44%) 5 (56%) NPC1L1 L272L G/G (43) 15 (58%) 11 (42%) 26 7 (41%) 10 (59%) 17 22 (51%) 21 (49%) G/C,C/C (36) 14 (56%) 11 (44%) 25 5 (45%) 6 (55%) 11 19 (53%) 17 (47%) Y1291Y G/G (55) 19 (54%) 16 (46%) 35 7 (35%) 13 (65%) 20 26 (47%) 29 (53%) G/A,A/A (24) 10 (63%) 6 (37%) 16 5 (63%) 3 (37%) 8 15 (63%) 9 (37%) Distributions of responders and non-responders among subjects with high and low basal PS levels at different SNPs were analyzed by chi-square test, followed by one-side Fisher`s exact test, significant was considered at * p \ 0.05 a, b For description of responders vs. non-responders and H_PS (n = 41) and L_PS (n = 38), see Table 1 c Percentage in parenthesis represents the % of the stated subject numbers over the total subject numbers Relation of NPC1L1 Gene Polymorphism Variations with Cholesterol Responsiveness to PS Intake Two sets of NPC1L1 common polymorphisms, L272L and Y1291Y, were identified to abide with Hardy-Weinberg equilibrium and thus further analyzed. Login to comment 99 ABCG8 p.Asp19His L_PSb ABCG8 A632 V AA (68) 27 (59%)c 19 (41%)c 46 10 (45%)c 12 (55%)c 22 37 (54%)c 31 (46%)c VA (11) 2 (40%)c 3 (60%)c 5 2 (33%)c 4 (67%)c 6 4 (36%)c 7 (64%)c T400 K* TT (51) 20 (59%)c 14 (41%)c 34 11 (65%)c 6 (35%)c 17 31 (61%)c 20 (39%)c TK/KK (28) 9 (53%)c 8 (47%)c 17 1 (9%)c 10 (91%)c 11 11 (39%)c 17 (61%)c D19H DD (70) 25 (57%) 19 (43%) 44 12 (46%) 14 (54%) 26 37 (53%) 33 (47%) DH (9) 4 (57%) 3 (43%) 7 0 (0 %) 2 (100%) 2 4 (44%) 5 (56%) NPC1L1 L272L G/G (43) 15 (58%) 11 (42%) 26 7 (41%) 10 (59%) 17 22 (51%) 21 (49%) G/C,C/C (36) 14 (56%) 11 (44%) 25 5 (45%) 6 (55%) 11 19 (53%) 17 (47%) Y1291Y G/G (55) 19 (54%) 16 (46%) 35 7 (35%) 13 (65%) 20 26 (47%) 29 (53%) G/A,A/A (24) 10 (63%) 6 (37%) 16 5 (63%) 3 (37%) 8 15 (63%) 9 (37%) Distributions of responders and non-responders among subjects with high and low basal PS levels at different SNPs were analyzed by chi-square test, followed by one-side Fisher`s exact test, significant was considered at * p \ 0.05 a, b For description of responders vs. non-responders and H_PS (n = 41) and L_PS (n = 38), see Table 1 c Percentage in parenthesis represents the % of the stated subject numbers over the total subject numbers Relation of NPC1L1 Gene Polymorphism Variations with Cholesterol Responsiveness to PS Intake Two sets of NPC1L1 common polymorphisms, L272L and Y1291Y, were identified to abide with Hardy-Weinberg equilibrium and thus further analyzed. Login to comment 102 ABCG8 p.Asp19His L_PSb ABCG8 A632 V AA (68) 27 (59%)c 19 (41%)c 46 10 (45%)c 12 (55%)c 22 37 (54%)c 31 (46%)c VA (11) 2 (40%)c 3 (60%)c 5 2 (33%)c 4 (67%)c 6 4 (36%)c 7 (64%)c T400 K* TT (51) 20 (59%)c 14 (41%)c 34 11 (65%)c 6 (35%)c 17 31 (61%)c 20 (39%)c TK/KK (28) 9 (53%)c 8 (47%)c 17 1 (9%)c 10 (91%)c 11 11 (39%)c 17 (61%)c D19H DD (70) 25 (57%) 19 (43%) 44 12 (46%) 14 (54%) 26 37 (53%) 33 (47%) DH (9) 4 (57%) 3 (43%) 7 0 (0 %) 2 (100%) 2 4 (44%) 5 (56%) NPC1L1 L272L G/G (43) 15 (58%) 11 (42%) 26 7 (41%) 10 (59%) 17 22 (51%) 21 (49%) G/C,C/C (36) 14 (56%) 11 (44%) 25 5 (45%) 6 (55%) 11 19 (53%) 17 (47%) Y1291Y G/G (55) 19 (54%) 16 (46%) 35 7 (35%) 13 (65%) 20 26 (47%) 29 (53%) G/A,A/A (24) 10 (63%) 6 (37%) 16 5 (63%) 3 (37%) 8 15 (63%) 9 (37%) Distributions of responders and non-responders among subjects with high and low basal PS levels at different SNPs were analyzed by chi-square test, followed by one-side Fisher`s exact test, significant was considered at * p \ 0.05 a, b For description of responders vs. non-responders and H_PS (n = 41) and L_PS (n = 38), see Table 1 c Percentage in parenthesis represents the % of the stated subject numbers over the total subject numbers Relation of NPC1L1 Gene Polymorphism Variations with Cholesterol Responsiveness to PS Intake Two sets of NPC1L1 common polymorphisms, L272L and Y1291Y, were identified to abide with Hardy-Weinberg equilibrium and thus further analyzed. 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