ABCMdb

PMID: 20172523

Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, Alonso R, Rodriguez F, Garcia-Olid A, Ruano J, Ordovas JM, Perez-Jimenez F
Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia.
Atherosclerosis. 2010 Jun;210(2):486-92. Epub 2010 Jan 22., [PubMed]

Sentences

No. Mutations Sentence Comment

21 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Another study examined the relationship between SNPs in the ABCG8 gene (D19H and T400K) and plasma cholesterol concentrations in patients with heterozygous FH [12]. Login to comment 22 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Another study examined the relationship between SNPs in the ABCG8 gene (D19H and T400K) and plasma cholesterol concentrations in patients with heterozygous FH [12]. Login to comment 71 ABCG5 p.Gln604Glu (A) ABCG5 i11836 (HDL-C; P = 0.023) (B) ABCG5 Q604E (TG; P = 0.017). Login to comment 73 ABCG5 p.Gln604Glu (A) ABCG5 i11836 (HDL-C; P = 0.023) (B) ABCG5 Q604E (TG; P = 0.017). Login to comment 117 ABCG5 p.Gln604Glu G5 i7892 Nonsmokers Smokers P A/A (n = 139) A/G + G/G (n = 198) A/A (n = 53) A/G + G/G (n = 75) TC 266.3 &#b1; 5.9 266.4 &#b1; 4.8 266.2 &#b1; 9.5 289.5 &#b1; 8.0 0.112 TG 4.55 &#b1; 0.03 4.47 &#b1; 0.02 4.56 &#b1; 0.05 4.68 &#b1; 0.04 0.013 LDL-C 197.4 &#b1; 5.7 198.5 &#b1; 4.7 199.1 &#b1; 9.3 223.9 &#b1; 7.8 0.095 HDL-C 46.6 &#b1; 1.0 48.6 &#b1; 0.8 44.6 &#b1; 1.6 41.2 &#b1; 1.3 0.030 VLDL-C 20.1 &#b1; 0.7 18.9 &#b1; 0.5 20.8 &#b1; 1.1 23.6 &#b1; 0.9 0.022 G5 i18429 C/C (n = 259) C/T + T/T (n = 78) C/C (n = 85) C/T + T/T (n = 43) TC 266.9 &#b1; 4.2 264.1 &#b1; 7.8 270.2 &#b1; 7.5 299.5 &#b1; 10.6 0.042 TG 4.53 &#b1; 0.02 4.41 &#b1; 0.04 4.61 &#b1; 0.04 4.67 &#b1; 0.06 0.047 LDL-C 198.0 &#b1; 4.1 198.1 &#b1; 7.6 204.6 &#b1; 7.3 232.0 &#b1; 10.3 0.077 HDL-C 47.9 &#b1; 0.7 47.3 &#b1; 1.3 43.5 &#b1; 1.2 40.8 &#b1; 1.8 0.472 VLDL-C 19.9 &#b1; 0.5 17.6 &#b1; 0.9 22.4 &#b1; 0.9 22.8 &#b1; 1.3 0.173 G5 i11836 G/G (n = 208) A/G + A/A (n = 129) G/G (n = 84) A/G + A/A (n = 44) TC 264.2 &#b1; 4.8 269.8 &#b1; 6.0 275.1 &#b1; 7.6 289.3 &#b1; 10.4 0.574 TG 4.53 &#b1; 0.02 4.47 &#b1; 0.03 4.59 &#b1; 0.04 4.70 &#b1; 0.05 0.039 LDL-C 196.4 &#b1; 4.7 200.7 &#b1; 5.9 209.9 &#b1; 7.4 220.9 &#b1; 10.2 0.646 HDL-C 46.3 &#b1; 0.8 50.1 &#b1; 1.0 42.9 &#b1; 1.3 42.3 &#b1; 1.7 0.092 VLDL-C 20.0 &#b1; 0.5 18.4 &#b1; 0.7 21.4 &#b1; 0.9 24.3 &#b1; 1.2 0.014 G5 Q604E C/C (n = 248) C/G + G/G (n = 89) C/C (n = 84) C/G + G/G (n = 44) TC 268.4 &#b1; 4.3 260.4 &#b1; 7.3 278.2 &#b1; 7.6 283.4 &#b1; 10.5 0.400 TG 4.55 &#b1; 0.02 4.39 &#b1; 0.04 4.62 &#b1; 0.04 4.65 &#b1; 0.05 0.038 LDL-C 199.0 &#b1; 4.2 195.1 &#b1; 7.2 211.3 &#b1; 7.4 218.2 &#b1; 10.2 0.477 HDL-C 48.0 &#b1; 0.7 47.2 &#b1; 1.2 43.3 &#b1; 1.3 41.3 &#b1; 1.8 0.637 VLDL-C 20.1 &#b1; 0.5 17.3 &#b1; 0.8 22.8 &#b1; 0.9 22.0 &#b1; 1.2 0.265 All values are mean &#b1; standard error. P for interaction. Login to comment 119 ABCG5 p.Gln604Glu G5 i7892 Nonsmokers Smokers P A/A (n = 139) A/G + G/G (n = 198) A/A (n = 53) A/G + G/G (n = 75) TC 266.3 ± 5.9 266.4 ± 4.8 266.2 ± 9.5 289.5 ± 8.0 0.112 TG 4.55 ± 0.03 4.47 ± 0.02 4.56 ± 0.05 4.68 ± 0.04 0.013 LDL-C 197.4 ± 5.7 198.5 ± 4.7 199.1 ± 9.3 223.9 ± 7.8 0.095 HDL-C 46.6 ± 1.0 48.6 ± 0.8 44.6 ± 1.6 41.2 ± 1.3 0.030 VLDL-C 20.1 ± 0.7 18.9 ± 0.5 20.8 ± 1.1 23.6 ± 0.9 0.022 G5 i18429 C/C (n = 259) C/T + T/T (n = 78) C/C (n = 85) C/T + T/T (n = 43) TC 266.9 ± 4.2 264.1 ± 7.8 270.2 ± 7.5 299.5 ± 10.6 0.042 TG 4.53 ± 0.02 4.41 ± 0.04 4.61 ± 0.04 4.67 ± 0.06 0.047 LDL-C 198.0 ± 4.1 198.1 ± 7.6 204.6 ± 7.3 232.0 ± 10.3 0.077 HDL-C 47.9 ± 0.7 47.3 ± 1.3 43.5 ± 1.2 40.8 ± 1.8 0.472 VLDL-C 19.9 ± 0.5 17.6 ± 0.9 22.4 ± 0.9 22.8 ± 1.3 0.173 G5 i11836 G/G (n = 208) A/G + A/A (n = 129) G/G (n = 84) A/G + A/A (n = 44) TC 264.2 ± 4.8 269.8 ± 6.0 275.1 ± 7.6 289.3 ± 10.4 0.574 TG 4.53 ± 0.02 4.47 ± 0.03 4.59 ± 0.04 4.70 ± 0.05 0.039 LDL-C 196.4 ± 4.7 200.7 ± 5.9 209.9 ± 7.4 220.9 ± 10.2 0.646 HDL-C 46.3 ± 0.8 50.1 ± 1.0 42.9 ± 1.3 42.3 ± 1.7 0.092 VLDL-C 20.0 ± 0.5 18.4 ± 0.7 21.4 ± 0.9 24.3 ± 1.2 0.014 G5 Q604E C/C (n = 248) C/G + G/G (n = 89) C/C (n = 84) C/G + G/G (n = 44) TC 268.4 ± 4.3 260.4 ± 7.3 278.2 ± 7.6 283.4 ± 10.5 0.400 TG 4.55 ± 0.02 4.39 ± 0.04 4.62 ± 0.04 4.65 ± 0.05 0.038 LDL-C 199.0 ± 4.2 195.1 ± 7.2 211.3 ± 7.4 218.2 ± 10.2 0.477 HDL-C 48.0 ± 0.7 47.2 ± 1.2 43.3 ± 1.3 41.3 ± 1.8 0.637 VLDL-C 20.1 ± 0.5 17.3 ± 0.8 22.8 ± 0.9 22.0 ± 1.2 0.265 All values are mean ± standard error. P for interaction. Login to comment 120 ABCG5 p.Gln604Glu G5 i7892 Nonsmokers Smokers P A/A (n = 139) A/G + G/G (n = 198) A/A (n = 53) A/G + G/G (n = 75) TC 266.3 &#b1; 5.9 266.4 &#b1; 4.8 266.2 &#b1; 9.5 289.5 &#b1; 8.0 0.112 TG 4.55 &#b1; 0.03 4.47 &#b1; 0.02 4.56 &#b1; 0.05 4.68 &#b1; 0.04 0.013 LDL-C 197.4 &#b1; 5.7 198.5 &#b1; 4.7 199.1 &#b1; 9.3 223.9 &#b1; 7.8 0.095 HDL-C 46.6 &#b1; 1.0 48.6 &#b1; 0.8 44.6 &#b1; 1.6 41.2 &#b1; 1.3 0.030 VLDL-C 20.1 &#b1; 0.7 18.9 &#b1; 0.5 20.8 &#b1; 1.1 23.6 &#b1; 0.9 0.022 G5 i18429 C/C (n = 259) C/T + T/T (n = 78) C/C (n = 85) C/T + T/T (n = 43) TC 266.9 &#b1; 4.2 264.1 &#b1; 7.8 270.2 &#b1; 7.5 299.5 &#b1; 10.6 0.042 TG 4.53 &#b1; 0.02 4.41 &#b1; 0.04 4.61 &#b1; 0.04 4.67 &#b1; 0.06 0.047 LDL-C 198.0 &#b1; 4.1 198.1 &#b1; 7.6 204.6 &#b1; 7.3 232.0 &#b1; 10.3 0.077 HDL-C 47.9 &#b1; 0.7 47.3 &#b1; 1.3 43.5 &#b1; 1.2 40.8 &#b1; 1.8 0.472 VLDL-C 19.9 &#b1; 0.5 17.6 &#b1; 0.9 22.4 &#b1; 0.9 22.8 &#b1; 1.3 0.173 G5 i11836 G/G (n = 208) A/G + A/A (n = 129) G/G (n = 84) A/G + A/A (n = 44) TC 264.2 &#b1; 4.8 269.8 &#b1; 6.0 275.1 &#b1; 7.6 289.3 &#b1; 10.4 0.574 TG 4.53 &#b1; 0.02 4.47 &#b1; 0.03 4.59 &#b1; 0.04 4.70 &#b1; 0.05 0.039 LDL-C 196.4 &#b1; 4.7 200.7 &#b1; 5.9 209.9 &#b1; 7.4 220.9 &#b1; 10.2 0.646 HDL-C 46.3 &#b1; 0.8 50.1 &#b1; 1.0 42.9 &#b1; 1.3 42.3 &#b1; 1.7 0.092 VLDL-C 20.0 &#b1; 0.5 18.4 &#b1; 0.7 21.4 &#b1; 0.9 24.3 &#b1; 1.2 0.014 G5 Q604E C/C (n = 248) C/G + G/G (n = 89) C/C (n = 84) C/G + G/G (n = 44) TC 268.4 &#b1; 4.3 260.4 &#b1; 7.3 278.2 &#b1; 7.6 283.4 &#b1; 10.5 0.400 TG 4.55 &#b1; 0.02 4.39 &#b1; 0.04 4.62 &#b1; 0.04 4.65 &#b1; 0.05 0.038 LDL-C 199.0 &#b1; 4.2 195.1 &#b1; 7.2 211.3 &#b1; 7.4 218.2 &#b1; 10.2 0.477 HDL-C 48.0 &#b1; 0.7 47.2 &#b1; 1.2 43.3 &#b1; 1.3 41.3 &#b1; 1.8 0.637 VLDL-C 20.1 &#b1; 0.5 17.3 &#b1; 0.8 22.8 &#b1; 0.9 22.0 &#b1; 1.2 0.265 All values are mean &#b1; standard error. P for interaction. Login to comment 139 ABCG5 p.Gln604Glu (A) Interaction ABCG5 i7892-smoking for HDL-C (B) Interaction ABCG5 i11836-smoking for TG (C) Interaction ABCG5 i18429-smoking for TG (D) Interaction ABCG5 Gln604Glu-smoking for TG. Login to comment 141 ABCG5 p.Gln604Glu (A) Interaction ABCG5 i7892-smoking for HDL-C (B) Interaction ABCG5 i11836-smoking for TG (C) Interaction ABCG5 i18429-smoking for TG (D) Interaction ABCG5 Gln604Glu-smoking for TG. Login to comment 142 ABCG5 p.Gln604Glu (A) Interaction ABCG5 i7892-smoking for HDL-C (B) Interaction ABCG5 i11836-smoking for TG (C) Interaction ABCG5 i18429-smoking for TG (D) Interaction ABCG5 Gln604Glu-smoking for TG. Login to comment 143 ABCG8 p.Asp19His ABCG8 p.Thr400Lys In this context, Koeijvoets et al. [12] explored the effect of two common ABCG8 (D19H and T400K) SNPs on lipids and CVD in 2,012 patients with heterozygous FH but did not find significant associations with plasma lipid concentrations. Login to comment 145 ABCG8 p.Asp19His ABCG8 p.Thr400Lys In this context, Koeijvoets et al. [12] explored the effect of two common ABCG8 (D19H and T400K) SNPs on lipids and CVD in 2,012 patients with heterozygous FH but did not find significant associations with plasma lipid concentrations. Login to comment 146 ABCG8 p.Asp19His ABCG8 p.Thr400Lys In this context, Koeijvoets et al. [12] explored the effect of two common ABCG8 (D19H and T400K) SNPs on lipids and CVD in 2,012 patients with heterozygous FH but did not find significant associations with plasma lipid concentrations. Login to comment 148 ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys On the other hand, Miwa et al. [11] reported no significant associations between three ABCG5/G8 (Q604E, C54Y and T400K) SNPs and serum lipid concentrations in 100 Japanese primary hypercholesterolaemic patients. Login to comment 149 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Consistent with both studies [11,12] we did not find associations between D19H, T400K and C54Y SNPs and plasma lipid concentrations. Login to comment 150 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys On the other hand, Miwa et al. [11] reported no significant associations between three ABCG5/G8 (Q604E, C54Y and T400K) SNPs and serum lipid concentrations in 100 Japanese primary hypercholesterolaemic patients. Login to comment 151 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys Consistent with both studies [11,12] we did not find associations between D19H, T400K and C54Y SNPs and plasma lipid concentrations. Login to comment 152 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys However, in contrast to Miwa et al. our data showed association between Q604E SNP and VLDL-C and TG concentrations. Login to comment 153 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu However, in contrast to Miwa et al. our data showed association between Q604E SNP and VLDL-C and TG concentrations. Login to comment 154 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys Additionally, Santosa et al. [10] examined the association of four SNPs at ABCG5 (Q604E, i7892, i18429 and M216) and four ABCG8 (C54Y, D19H, i14222 and T400K) with plasma lipids concentrations in 35 young women with mildly hypercholesterolemia. Login to comment 155 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys They found that C54Y and Q604E SNPs were associated with the response of cholesterol metabolism to weight loss. Login to comment 156 ABCG5 p.Gln604Glu They found that C54Y and Q604E SNPs were associated with the response of cholesterol metabolism to weight loss. Login to comment