Home
Browse
Search
Statistics
About
Usage
PMID: 18581044
Chen ZC, Shin SJ, Kuo KK, Lin KD, Yu ML, Hsiao PJ
Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance.
J Hum Genet. 2008;53(8):757-63. Epub 2008 Jun 26.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
5
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:5:36
status:
VERIFIED
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:5:51
status:
VERIFIED
view ABCG8 p.Asp19His details
Five nonsynonymous polymorphisms of
Q604E
(ABCG5),
D19H
, C54Y, T400 K and A632 V (ABCG8) were analyzed by TaqMan genotyping assay.
Login to comment
6
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:6:25
status:
VERIFIED
view ABCG8 p.Asp19His details
Analysis showed that the
D19H
polymorphism of the ABCG8 gene was significantly associated with serum total cholesterol, LDL-C levels and HOMA-IR index.
Login to comment
7
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:7:45
status:
VERIFIED
view ABCG8 p.Asp19His details
Adjusting for sex and age, subjects with the
D19H
(GC) genotype were significantly associated with a threefold higher risk of high cholesterol and LDL-C levels than subjects with D19 (GG).
Login to comment
8
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:8:31
status:
VERIFIED
view ABCG8 p.Asp19His details
These results suggest that the
D19H
polymorphism of ABCG8 could be considered a susceptible gene marker indicating an increased likelihood of developing high cholesterol and LDL-C levels in Taiwanese consuming an ordinary Chinese diet.
Login to comment
9
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:9:110
status:
VERIFIED
view ABCG8 p.Asp19His details
It is supposed that the coexistence of higher insulin resistance and hypercholesterolemia for carriers of the
D19H
polymorphism may result in a greater risk of cardiovascular disease.
Login to comment
41
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:41:9
status:
VERIFIED
view ABCG8 p.Asp19His details
However,
D19H
of the ABCG8 gene, which has a frequency of less than 5%, was also chosen because of its strong correlation to cholesterol homeostasis as reported in the literature (Gylling et al. 2004; Huba´cˇek et al. 2004; Kajinami et al. 2004a, 2004b).
Login to comment
42
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:42:44
status:
VERIFIED
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:42:9
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:42:84
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:42:121
status:
VERIFIED
view ABCG8 p.Thr400Lys details
Five nons
ynon
ymous polymorphisms, including
Q604E
(rs6720173) of the ABCG5 gene and
D19H
(rs11887534), C54Y (rs4148211),
T400K
(rs4148217) and A632V (rs6544718) of the ABCG8 gene, were chosen for genotyping (http://www.ncbi.nlm.nih.gov/).
Login to comment
43
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:43:44
status:
NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:43:84
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:43:121
status:
NEW
view ABCG8 p.Thr400Lys details
Five nonsynonymous polymorphisms, including
Q604E
(rs6720173) of the ABCG5 gene and
D19H
(rs11887534), C54Y (rs4148211),
T400K
(rs4148217) and A632V (rs6544718) of the ABCG8 gene, were chosen for genotyping (http://www.ncbi.nlm.nih.gov/).
Login to comment
62
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:62:41
status:
VERIFIED
view ABCG5 p.Gln604Glu details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:62:66
status:
VERIFIED
view ABCG8 p.Thr400Lys details
Five nonsynonymous polymorphisms (ABCG5:
Q604E
; ABCG8:D19H, C54Y,
T400K
, A632V) were genotyped in our population.
Login to comment
63
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:63:41
status:
NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:63:66
status:
NEW
view ABCG8 p.Thr400Lys details
Five nonsynonymous polymorphisms (ABCG5:
Q604E
; ABCG8:D19H, C54Y,
T400K
, A632V) were genotyped in our population.
Login to comment
64
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:64:39
status:
VERIFIED
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:64:52
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:64:79
status:
VERIFIED
view ABCG8 p.Thr400Lys details
The minor allele frequencies (MAFs) of
Q604E
(C:G);
D19H
(G:C), C54Y (G:A) and
T400K
(C:A) were 10.5, 1.4, 9.7 and 8.0%, respectively.
Login to comment
65
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:65:39
status:
NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:65:52
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:65:79
status:
NEW
view ABCG8 p.Thr400Lys details
The minor allele frequencies (MAFs) of
Q604E
(C:G);
D19H
(G:C), C54Y (G:A) and
T400K
(C:A) were 10.5, 1.4, 9.7 and 8.0%, respectively.
Login to comment
67
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:67:46
status:
VERIFIED
view ABCG8 p.Asp19His details
Our results showed that the minor C allele of
D19H
occurred with a lower frequency in Chinese than in Caucasians.
Login to comment
68
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:68:46
status:
NEW
view ABCG8 p.Asp19His details
Our results showed that the minor C allele of
D19H
occurred with a lower frequency in Chinese than in Caucasians.
Login to comment
69
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:69:113
status:
VERIFIED
view ABCG5 p.Gln604Glu details
Subjects with genotype Q604 (CC) had significantly higher serum total cholesterol levels than those of genotypes
Q604E
(CG) or 604E (GG).
Login to comment
70
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:70:113
status:
NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:70:95
status:
VERIFIED
view ABCG8 p.Asp19His details
The serum total cholesterol and the LDL-C level were significantly higher in subjects with the
D19H
(GC) genotype
than
those with D19 (GG).
Login to comment
71
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:71:95
status:
NEW
view ABCG8 p.Asp19His details
The serum total cholesterol and the LDL-C level were significantly higher in subjects with the
D19H
(GC) genotype than those with D19 (GG).
Login to comment
72
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:72:251
status:
VERIFIED
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:72:100
status:
VERIFIED
view ABCG8 p.Asp19His details
This exhibited a significant trend with an increasing frequency of the C allele in Q604 (ABCG5) and
D19H
(ABCG8) genotypes from the Table 1 Serum cholesterol and LDL levels for the genotypes of ABCG5/ABCG8 Cholesterol (mg/dl) P LDL-C (mg/dl) P ABCG5:
Q604E
(C1810G) Genotype CC (n = 9) 225.9 ± 48.5 0.008 133.7 ± 40.0 0.733 CG (n = 203) 189.6 ± 37.6 130.1 ± 32.7 GG (n = 833) 187.2 ± 38.1 127.9 ± 35.9 ABCG8:D19H (G55C) Genotype GG (n = 1,016) 187.2 ± 37.9 0.005 127.8 ± 35.2 0.023 GC (n = 30) 207.1 ± 45.1 145.1 ± 40.6 CC (n = 0) - - ABCG8:C54Y (G161A) Genotype GG (n = 853) 187.3 ± 37.8 0.297 127.8 ± 35.4 0.671 GA (n = 189) 190.4 ± 40.0 130.0 ± 35.2 AA (n = 8) 171.6 ± 24.0 118.0 ± 23.8 ABCG8:T400 K (C1199A) Genotype CC (n = 885) 188.0 ± 38.2 0.869 128.3 ± 35.4 0.997 CA (n = 164) 186.9 ± 38.2 128.3 ± 34.3 AA (n = 2) 194.0 ± 22.6 131.0 ± 10.2 P values were obtained from a one-way ANOVA and the t test desirable to the moderately high and then to the high cholesterol category.
Login to comment
73
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:73:251
status:
NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:73:100
status:
NEW
view ABCG8 p.Asp19His details
This exhibited a significant trend with an increasing frequency of the C allele in Q604 (ABCG5) and
D19H
(ABCG8) genotypes from the Table 1 Serum cholesterol and LDL levels for the genotypes of ABCG5/ABCG8 Cholesterol (mg/dl) P LDL-C (mg/dl) P ABCG5:
Q604E
(C1810G) Genotype CC (n = 9) 225.9 &#b1; 48.5 0.008 133.7 &#b1; 40.0 0.733 CG (n = 203) 189.6 &#b1; 37.6 130.1 &#b1; 32.7 GG (n = 833) 187.2 &#b1; 38.1 127.9 &#b1; 35.9 ABCG8:D19H (G55C) Genotype GG (n = 1,016) 187.2 &#b1; 37.9 0.005 127.8 &#b1; 35.2 0.023 GC (n = 30) 207.1 &#b1; 45.1 145.1 &#b1; 40.6 CC (n = 0) - - ABCG8:C54Y (G161A) Genotype GG (n = 853) 187.3 &#b1; 37.8 0.297 127.8 &#b1; 35.4 0.671 GA (n = 189) 190.4 &#b1; 40.0 130.0 &#b1; 35.2 AA (n = 8) 171.6 &#b1; 24.0 118.0 &#b1; 23.8 ABCG8:T400 K (C1199A) Genotype CC (n = 885) 188.0 &#b1; 38.2 0.869 128.3 &#b1; 35.4 0.997 CA (n = 164) 186.9 &#b1; 38.2 128.3 &#b1; 34.3 AA (n = 2) 194.0 &#b1; 22.6 131.0 &#b1; 10.2 P values were obtained from a one-way ANOVA and the t test desirable to the moderately high and then to the high cholesterol category.
Login to comment
75
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:75:80
status:
VERIFIED
view ABCG8 p.Asp19His details
The relationships of the biochemical parameters to the genotypes of the D19 and
D19H
polymorphisms are shown in Table 3.
Login to comment
76
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:76:23
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:76:80
status:
NEW
view ABCG8 p.Asp19His details
Subjects with genotype
D19H
(GC) have significantly higher serum cholesterol and
LDL
-C levels than those with D19 (GG).
Login to comment
77
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:77:23
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:77:148
status:
VERIFIED
view ABCG8 p.Asp19His details
Although there was no d
iffe
rence in metabolic biomarkers (BMI, blood pressure, fasting glucose) between these two genotypes, subjects with genotype
D19H
(GC) had a significantly higher HOMA-IR index than those with D19 (GG).
Login to comment
78
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:78:74
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:78:148
status:
NEW
view ABCG8 p.Asp19His details
The genotypic effect on serum cholesterol and LDL-C levels was tested for
D19H
(Table 4).
Login to comment
79
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:79:46
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:79:74
status:
NEW
view ABCG8 p.Asp19His details
The results showed that the subjects with the
D19H
genotype (i.e., the GC
geno
type) were significantly associated with a higher risk of raised cholesterol and LDL-C levels than subjects with D19 (GG).
Login to comment
80
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:80:46
status:
NEW
view ABCG8 p.Asp19His details
The results showed that the subjects with the
D19H
genotype (i.e., the GC genotype) were significantly associated with a higher risk of raised cholesterol and LDL-C levels than subjects with D19 (GG).
Login to comment
82
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:82:64
status:
VERIFIED
view ABCG8 p.Asp19His details
Our results demonstrated that subjects with the C allele of the
D19H
polymorphism had significantly higher total cholesterol and LDL-C levels compared with subjects that did not carry the C allele.
Login to comment
83
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:83:320
status:
VERIFIED
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:31
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:64
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:886
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:1919
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:1940
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:1984
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:2005
status:
VERIFIED
view ABCG8 p.Asp19His details
In addition, subjects with the
D19H
variant were associated with
an
almost threefold higher risk of developing high total cholesterol and LDL-C levels Table 2 Genotype frequency of ABCG5/ABCG8 versus categorized cholesterol level Serum cholesterol (mg/dl) Desirable (\200) Moderately high (200-239) High (C240) P ABCG5:
Q604E
(C1810G) Genotype CC 3 (0.43%) 2 (0.84%) 4 (3.5%) 0.004 CG+GG 692 (99.6%) 235 (99.2%) 109 (96.5%) ABCG8:D19H (G55C) Genotype GG 682 (98.0%) 227 (96.6%) 104 (92.9%) 0.009 GC 14 (2.0%) 8 (3.4%) 8 (7.1%) ABCG8:C54Y (G161A) Genotype GG 576 (82.1%) 190 (80.5%) 87 (77.7%) 0.517 GA+AA 126 (17.9%) 46 (19.5%) 25 (22.3%) ABCG8:T400 K (C1199A) Genotype CC 592 (84.3%) 197 (83.5%) 96 (85.0%) 0.927 CA+AA 110 (15.7%) 39 (16.5%) 17 (15.0%) P values were obtained from the chi-square test Table 3 Comparison of the biochemical characteristics of subjects with D19 (GG) and
D19H
(GC) genotypes GG GC P Number 1,016 30 Sex (M:F) 870:146 24:6 0.39 Age (years) 49.1 ± 9.2 49.8 ± 11.4 0.09 BMI (kg/m2 ) 24.4 ± 3.3 25.4 ± 4.2 0.09 SBP (mmHg) 125.4 ± 16.5 124.3 ± 13.8 0.76 DBP (mmHg) 77.6 ± 11.1 78.6 ± 7.0 0.64 CHOL (mg/dl) 187.2 ± 37.9 207.1 ± 45.1 0.005 TG (mg/dl) 139.8 ± 146.3 124.5 ± 46.8 0.57 LDL-C (mg/dl) 127.8 ± 35.2 145.1 ± 40.6 0.023 HDL-C (mg/dl) 52.2 ± 13.2 53.1 ± 10.1 0.77 F-glucose (mg/dl) 96.7 ± 28.7 98.4 ± 25.2 0.76 HOMA-IR 1.12 ± 2.00 3.21 ± 7.84 0.026 Data are shown as as mean ± SD Student`s t test was used for statistical analysis and the Mann-Whitney U test was used for HOMA-IR BMI, body mass index; SBP, systolic blood pressure; DBP, diastolic blood pressure; CHOL, cholesterol; TG, triglyceride; LDL-C, low-density lipoprotein; HDL-C, high-density lipoprotein; F-glucose, fasting glucose; HOMA-IR, homeostatic model assessment insulin resistance Table 4 Risk stratification for
the
ABCG8 genotypes (
D19H
vs. D19) in terms of serum cholesterol
and
LDL-C levels D19
D19H
P Moderately high versus desirable cholesterol Crude odds ratio 1 1.72 (0.71-4.14) 0.23 Adjusted odds ratio 1 1.54 (0.62-3.83) 0.35 High versus desirable cholesterol Crude odds ratio 1 3.75 (1.53-9.15) 0.004 Adjusted odds ratio 1 3.44 (1.32-8.97) 0.012 Moderately high versus desirable LDL-C Crude odds ratio 1 1.92 (0.67-5.54) 0.227 Adjusted odds ratio 1 1.65 (0.55-4.89) 0.37 High versus desirable LDL-C Crude odds ratio 1 3.51 (1.25-9.85) 0.017 Adjusted odds ratio 1 3.29 (1.10-9.82) 0.033 Desirable cholesterol indicates \200 mg/dl; moderately high cholesterol indicates 200-239 mg/dl; high cholesterol indicates C240 mg/dl Desirable LDL-C indicates \130 mg/dl; moderately high LDL-C indicates 130-159 mg/dl; high LDL-C indicates C160 mg/dl Logistic regression analysis was used to estimate the odds ratio, by adjusting for age and sex.
Login to comment
84
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:84:320
status:
NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:31
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:886
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:1919
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:1984
status:
NEW
view ABCG8 p.Asp19His details
In addition, subjects with the
D19H
variant were associated with an almost threefold higher risk of developing high total cholesterol and LDL-C levels Table 2 Genotype frequency of ABCG5/ABCG8 versus categorized cholesterol level Serum cholesterol (mg/dl) Desirable (\200) Moderately high (200-239) High (C240) P ABCG5:
Q604E
(C1810G) Genotype CC 3 (0.43%) 2 (0.84%) 4 (3.5%) 0.004 CG+GG 692 (99.6%) 235 (99.2%) 109 (96.5%) ABCG8:D19H (G55C) Genotype GG 682 (98.0%) 227 (96.6%) 104 (92.9%) 0.009 GC 14 (2.0%) 8 (3.4%) 8 (7.1%) ABCG8:C54Y (G161A) Genotype GG 576 (82.1%) 190 (80.5%) 87 (77.7%) 0.517 GA+AA 126 (17.9%) 46 (19.5%) 25 (22.3%) ABCG8:T400 K (C1199A) Genotype CC 592 (84.3%) 197 (83.5%) 96 (85.0%) 0.927 CA+AA 110 (15.7%) 39 (16.5%) 17 (15.0%) P values were obtained from the chi-square test Table 3 Comparison of the biochemical characteristics of subjects with D19 (GG) and
D19H
(GC) genotypes GG GC P Number 1,016 30 Sex (M:F) 870:146 24:6 0.39 Age (years) 49.1 &#b1; 9.2 49.8 &#b1; 11.4 0.09 BMI (kg/m2 ) 24.4 &#b1; 3.3 25.4 &#b1; 4.2 0.09 SBP (mmHg) 125.4 &#b1; 16.5 124.3 &#b1; 13.8 0.76 DBP (mmHg) 77.6 &#b1; 11.1 78.6 &#b1; 7.0 0.64 CHOL (mg/dl) 187.2 &#b1; 37.9 207.1 &#b1; 45.1 0.005 TG (mg/dl) 139.8 &#b1; 146.3 124.5 &#b1; 46.8 0.57 LDL-C (mg/dl) 127.8 &#b1; 35.2 145.1 &#b1; 40.6 0.023 HDL-C (mg/dl) 52.2 &#b1; 13.2 53.1 &#b1; 10.1 0.77 F-glucose (mg/dl) 96.7 &#b1; 28.7 98.4 &#b1; 25.2 0.76 HOMA-IR 1.12 &#b1; 2.00 3.21 &#b1; 7.84 0.026 Data are shown as as mean &#b1; SD Student`s t test was used for statistical analysis and the Mann-Whitney U test was used for HOMA-IR BMI, body mass index; SBP, systolic blood pressure; DBP, diastolic blood pressure; CHOL, cholesterol; TG, triglyceride; LDL-C, low-density lipoprotein; HDL-C, high-density lipoprotein; F-glucose, fasting glucose; HOMA-IR, homeostatic model assessment insulin resistance Table 4 Risk stratification for the ABCG8 genotypes (
D19H
vs. D19) in terms of serum cholesterol and LDL-C levels D19
D19H
P Moderately high versus desirable cholesterol Crude odds ratio 1 1.72 (0.71-4.14) 0.23 Adjusted odds ratio 1 1.54 (0.62-3.83) 0.35 High versus desirable cholesterol Crude odds ratio 1 3.75 (1.53-9.15) 0.004 Adjusted odds ratio 1 3.44 (1.32-8.97) 0.012 Moderately high versus desirable LDL-C Crude odds ratio 1 1.92 (0.67-5.54) 0.227 Adjusted odds ratio 1 1.65 (0.55-4.89) 0.37 High versus desirable LDL-C Crude odds ratio 1 3.51 (1.25-9.85) 0.017 Adjusted odds ratio 1 3.29 (1.10-9.82) 0.033 Desirable cholesterol indicates \200 mg/dl; moderately high cholesterol indicates 200-239 mg/dl; high cholesterol indicates C240 mg/dl Desirable LDL-C indicates \130 mg/dl; moderately high LDL-C indicates 130-159 mg/dl; high LDL-C indicates C160 mg/dl Logistic regression analysis was used to estimate the odds ratio, by adjusting for age and sex.
Login to comment
85
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:85:32
status:
VERIFIED
view ABCG8 p.Asp19His details
Our finding implicated that the
D19H
polymorphism may have a functional consequence due to the substitution of aspartic acid by histidine, which results in a conformational change that alters the ability to export sterol and cholesterol homeostasis.
Login to comment
86
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:86:30
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:86:32
status:
NEW
view ABCG8 p.Asp19His details
It has been reported that the
D19H p
olymorphism is linked to a lower plant sterol and cholesterol absorption efficiency.
Login to comment
87
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:87:30
status:
NEW
view ABCG8 p.Asp19His details
It has been reported that the
D19H
polymorphism is linked to a lower plant sterol and cholesterol absorption efficiency.
Login to comment
88
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:88:99
status:
VERIFIED
view ABCG8 p.Asp19His details
Berge and colleagues identified significantly reduced plant sterol absorption in carriers with the
D19H
polymorphism in a family study of a healthy normolipidemic population, but there was no association of the serum lipid level with this polymorphism (Berge et al. 2002).
Login to comment
89
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:89:99
status:
NEW
view ABCG8 p.Asp19His details
Berge and colleagues identified significantly reduced plant sterol absorption in carriers with the
D19H
polymorphism in a family study of a healthy normolipidemic population, but there was no association of the serum lipid level with this polymorphism (Berge et al. 2002).
Login to comment
90
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:90:16
status:
VERIFIED
view ABCG8 p.Asp19His details
They found that
D19H
/19H (GC or CC) variants were more frequent in the lowest cholesterol absorption tertile.
Login to comment
91
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:91:16
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:91:119
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:91:121
status:
VERIFIED
view ABCG8 p.Asp19His details
Serum total chol
este
rol (5.37 ± 0.15 mmol/l) and LDL-C levels (3.29 ± 0.14 mmol/l) were lower in subjects wit
h D19H
/19H (GC or CC) variants than in those (5.82 ± 0.07 mmol/l; 3.78 ± 0.07 mmol/l) with the D19 genotype (Gylling et al. 2004).
Login to comment
92
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:92:81
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:92:119
status:
NEW
view ABCG8 p.Asp19His details
Kajinami et al. found that hypercholesterolemic patients (LDL-C C160 mg/dl) with
D19H
/19H variants had a lower total ch
oles
terol level at baseline.
Login to comment
93
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:93:23
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:93:81
status:
NEW
view ABCG8 p.Asp19His details
However, subjects with
D19H
/19H variants were noted to exhibit greater reductions
in
LDL-C levels with statin treatment under the NCEP step 1 diet throughout the study.
Login to comment
94
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:94:23
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:94:149
status:
VERIFIED
view ABCG8 p.Asp19His details
The greater response of
LDL
-C to statin treatment could be explained by a compensatory increase in endogenous cholesterol synthesis in subjects with
D19H
/19H variants compared to the D19 variant (Kajinami et al. 2004a, 2004b).
Login to comment
95
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:95:106
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:95:149
status:
NEW
view ABCG8 p.Asp19His details
The discordance between our results for the serum total cholesterol and LDL-C levels in our subjects with
D19H
and previous results may be attributed
to
the following reasons: (1) the populations studied had different recruitment criteria for serum lipid levels; (2) dietary habits of different races; (3) different dietary interventions within the study period.
Login to comment
96
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:96:106
status:
NEW
view ABCG8 p.Asp19His details
The discordance between our results for the serum total cholesterol and LDL-C levels in our subjects with
D19H
and previous results may be attributed to the following reasons: (1) the populations studied had different recruitment criteria for serum lipid levels; (2) dietary habits of different races; (3) different dietary interventions within the study period.
Login to comment
97
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:97:44
status:
VERIFIED
view ABCG8 p.Asp19His details
These results clearly demonstrated that the
D19H
polymorphism, even though it was rare, significantly contributed to an independent genetic risk of developing high total cholesterol and LDL-C levels.
Login to comment
98
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:98:44
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:98:77
status:
VERIFIED
view ABCG8 p.Asp19His details
As reports have shown previously, this point
s to
the fact that subjects with
D19H
/19H (GC or CC) variants are disposed to having a lower cholesterol absorption efficiency (Gylling et al. 2004; Huba´cˇek et al. 2004; Kajinami et al. 2004a, 2004b).
Login to comment
99
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:99:77
status:
NEW
view ABCG8 p.Asp19His details
As reports have shown previously, this points to the fact that subjects with
D19H
/19H (GC or CC) variants are disposed to having a lower cholesterol absorption efficiency (Gylling et al. 2004; Huba &#b4;c c7;ek et al. 2004; Kajinami et al. 2004a, 2004b).
Login to comment
100
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:100:258
status:
VERIFIED
view ABCG8 p.Asp19His details
Since hepatic cholesterol biosynthesis has the greatest effect on cholesterol homeostasis (Lammert and Wang 2005; Wang 2007; Sehayek 2003; Temel et al. 2007), we can plausibly speculate that the compensatory hepatic cholesterol biosynthesis in subjects with
D19H
(GC) caused their higher serum total cholesterol and LDL-C levels than those observed with the D19 (GG) genotype in our results.
Login to comment
101
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:101:258
status:
NEW
view ABCG8 p.Asp19His details
Since hepatic cholesterol biosynthesis has the greatest effect on cholesterol homeostasis (Lammert and Wang 2005; Wang 2007; Sehayek 2003; Temel et al. 2007), we can plausibly speculate that the compensatory hepatic cholesterol biosynthesis in subjects with
D19H
(GC) caused their higher serum total cholesterol and LDL-C levels than those observed with the D19 (GG) genotype in our results.
Login to comment
110
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:110:90
status:
VERIFIED
view ABCG8 p.Asp19His details
Based on the findings of Gylling et al. (2004) and Kajinami et al. (2004a), subjects with
D19H
/19H have a lower cholesterol absorption efficiency but respond more to statin treatment than D19 subjects.
Login to comment
111
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:111:90
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:111:236
status:
VERIFIED
view ABCG8 p.Asp19His details
Upon comparing our results with those in previous reports, we rationally assumed that cons
umin
g a higher ratio of plant sterols to cholesterol in the diet may influence the relative absorption efficiency of cholesterol in subjects with
D19H
variants, causing a much lower cholesterol absorption and therefore increasing hepatic cholesterol biosynthesis, thus resulting in higher serum total cholesterol and LDL-C levels than those of D19 variants.
Login to comment
112
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:112:41
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:112:236
status:
NEW
view ABCG8 p.Asp19His details
Our results indicated that subjects with
D19H
variants had greater insulin resistance (higher HOMA-IR index) than those with D19 variants, although they did not differ in terms of other metabolic biomarkers (BMI, blood pressure, serum
trig
lyceride, plasma glucose).
Login to comment
113
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:113:41
status:
NEW
view ABCG8 p.Asp19His details
Our results indicated that subjects with
D19H
variants had greater insulin resistance (higher HOMA-IR index) than those with D19 variants, although they did not differ in terms of other metabolic biomarkers (BMI, blood pressure, serum triglyceride, plasma glucose).
Login to comment
114
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:114:45
status:
VERIFIED
view ABCG5 p.Gln604Glu details
In a study of hypercholesterolemic subjects,
Q604E
polymorphism was linked to insulin resistance in men (Gylling et al. 2004).
Login to comment
115
ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:115:45
status:
NEW
view ABCG5 p.Gln604Glu details
In a study of hypercholesterolemic subjects,
Q604E
polymorphism was linked to insulin resistance in men (Gylling et al. 2004).
Login to comment
118
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:118:73
status:
VERIFIED
view ABCG8 p.Asp19His details
Therefore, the higher insulin resistance status of our subjects with the
D19H
polymorphism is reasonably explained by the effects of lower cholesterol absorption and higher cholesterol synthesis compared to those with D19 variants.
Login to comment
119
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:119:73
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:119:152
status:
VERIFIED
view ABCG8 p.Asp19His details
Their higher serum total cholesterol and HOMA-IR may lead to a higher ris
k of
progressive atherosclerosis and cardiovascular disease in people with the
D19H
polymorphism.
Login to comment
120
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:120:105
status:
VERIFIED
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:120:152
status:
NEW
view ABCG8 p.Asp19His details
It seems wise to start preventive intervention strategies for atherosclerosis earlier in carriers of the
D19H
polymorphism.
Login to comment
121
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:121:105
status:
NEW
view ABCG8 p.Asp19His details
It seems wise to start preventive intervention strategies for atherosclerosis earlier in carriers of the
D19H
polymorphism.
Login to comment
122
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:122:0
status:
VERIFIED
view ABCG8 p.Asp19His details
D19H
polymorphism could be regarded as a susceptible gene marker for developing high total cholesterol, high LDL-C levels and insulin resistance in people consuming a Chinese diet.
Login to comment
123
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:123:0
status:
NEW
view ABCG8 p.Asp19His details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:123:33
status:
VERIFIED
view ABCG8 p.Asp19His details
Beca
use of the limited number of
D19H
subjects in our population, this result can be regarded as intriguing but tentative, and will therefore require more study before any further application of it is made.
Login to comment
124
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:124:33
status:
NEW
view ABCG8 p.Asp19His details
Because of the limited number of
D19H
subjects in our population, this result can be regarded as intriguing but tentative, and will therefore require more study before any further application of it is made.
Login to comment