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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:5:51
status: VERIFIED
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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
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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
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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
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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
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:42:9
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:42:84
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:42:121
status: VERIFIED
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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
43 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 18581044:43:44
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:43:84
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:43:121
status: NEW
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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
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:62:66
status: VERIFIED
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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
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:63:66
status: NEW
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:64:52
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:64:79
status: VERIFIED
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:65:52
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 18581044:65:79
status: NEW
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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
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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
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:70:95
status: VERIFIED
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:72:100
status: VERIFIED
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:73:100
status: NEW
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:76:80
status: NEW
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:77:148
status: VERIFIED
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Although there was no difference 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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:78:148
status: NEW
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:79:74
status: NEW
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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
80 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:80:46
status: NEW
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:31
status: VERIFIED
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:64
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:886
status: VERIFIED
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:1919
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:1940
status: VERIFIED
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:1984
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:83:2005
status: VERIFIED
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:31
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:886
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:1919
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:84:1984
status: NEW
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:86:32
status: NEW
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It has been reported that the D19H polymorphism 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
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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
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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
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:91:119
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:91:121
status: VERIFIED
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Serum total cholesterol (5.37 ± 0.15 mmol/l) and LDL-C levels (3.29 ± 0.14 mmol/l) were lower in subjects with 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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:92:119
status: NEW
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Kajinami et al. found that hypercholesterolemic patients (LDL-C C160 mg/dl) with D19H/19H variants had a lower total cholesterol level at baseline. Login to comment
93 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:93:23
status: VERIFIED
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:93:81
status: NEW
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:94:149
status: VERIFIED
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:95:149
status: NEW
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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
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:98:77
status: VERIFIED
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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´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
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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
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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
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:111:236
status: VERIFIED
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Upon comparing our results with those in previous reports, we rationally assumed that consuming 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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:112:236
status: NEW
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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
113 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:113:41
status: NEW
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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
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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
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:119:152
status: VERIFIED
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Their higher serum total cholesterol and HOMA-IR may lead to a higher risk 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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:120:152
status: NEW
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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
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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
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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
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:123:33
status: VERIFIED
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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
124 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 18581044:124:33
status: NEW
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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