ABCMdb

PMID: 22655090

Li Q, Yin RX, Wei XL, Yan TT, Aung LH, Wu DF, Wu JZ, Lin WX, Liu CW, Pan SL
ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels.
PLoS One. 2012;7(5):e37972. Epub 2012 May 24., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCG5 p.Gln604Glu ABCG8 p.Tyr54Cys Therefore, the aim of the present study was to explore the association of ABCG5 (rs4131229, i7892 T.C and rs6720173, Q604E G.C) and ABCG8 (rs3806471, 5U145 A.C and rs4148211, Y54C A.G) SNPs and several environmental factors with serum lipid profiles in the Mulao and Han populations. Login to comment 42 ABCG5 p.Gln604Glu ABCG8 p.Tyr54Cys Therefore, the aim of the present study was to explore the association of ABCG5 (rs4131229, i7892 T.C and rs6720173, Q604E G.C) and ABCG8 (rs3806471, 5U145 A.C and rs4148211, Y54C A.G) SNPs and several environmental factors with serum lipid profiles in the Mulao and Han populations. Login to comment 180 ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Allele frequencies of the ABCG8 D19H, Y54C, T400K, and A632V SNPs in patients with ischemic vascular diseases showed no significant differences compared with controls. Login to comment 181 ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Allele frequencies of the ABCG8 D19H, Y54C, T400K, and A632V SNPs in patients with ischemic vascular diseases showed no significant differences compared with controls. Login to comment 182 ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Allele frequencies of the ABCG8 D19H, Y54C, T400K, and A632V SNPs in patients with ischemic vascular diseases showed no significant differences compared with controls. Login to comment 190 ABCG5 p.Gln604Glu Weggemans et al. [29] found that subjects with the EE genotype of ABCG5 Q604E had higher serum cholesterol concentrations than carriers with the wild-type Q allele. Login to comment 191 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu Herron et al. [30] found that a shift from a low to a high-dietary-cholesterol diet in individuals with the ABCG5 Q604E mutant allele was associated with a greater increase in plasma LDL-C compared to subjects who were heterozygous or who carried only the wild-type allele. Login to comment 192 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu Weggemans et al. [29] found that subjects with the EE genotype of ABCG5 Q604E had higher serum cholesterol concentrations than carriers with the wild-type Q allele. Login to comment 193 ABCG5 p.Gln604Glu Herron et al. [30] found that a shift from a low to a high-dietary- cholesterol diet in individuals with the ABCG5 Q604E mutant allele was associated with a greater increase in plasma LDL-C compared to subjects who were heterozygous or who carried only the wild-type allele. Login to comment 197 ABCG5 p.Arg50Cys The minor T allele of rs6756629 (R50C, C.T) in ABCG5 was reported to be associated with lower levels of TC (P = 1.5610211 ) and LDL-C (P = 2.6610210 ) compared to the major allele [15]. Login to comment 198 ABCG5 p.Arg50Cys The minor T allele of rs6756629 (R50C, C.T) in ABCG5 was reported to be associated with lower levels of TC (P = 1.5610211 ) and LDL-C (P = 2.6610210 ) compared to the major allele [15]. Login to comment 199 ABCG5 p.Arg50Cys The minor T allele of rs6756629 (R50C, C.T) in ABCG5 was reported to be associated with lower levels of TC (P = 1.5610211 ) and LDL-C (P = 2.6610210 ) compared to the major allele [15]. Login to comment 201 ABCG5 p.Gln604Glu On the other hand, nonsmokers carriers of the minor alleles at ABCG5 (i18429C.T and Gln604Glu C.G) SNPs had significantly lower TG concentrations (P = 0.012 and P = 0.035) compared with homozygous for the major allele. Login to comment 202 ABCG5 p.Gln604Glu On the other hand, nonsmokers carriers of the minor alleles at ABCG5 (i18429C.T and Gln604Glu C.G) SNPs had significantly lower TG concentrations (P = 0.012 and P = 0.035) compared with homozygous for the major allele. Login to comment 203 ABCG5 p.Gln604Glu On the other hand, nonsmokers carriers of the minor alleles at ABCG5 (i18429C.T and Gln604Glu C.G) SNPs had significantly lower TG concentrations (P = 0.012 and P = 0.035) compared with homozygous for the major allele. Login to comment 210 ABCG8 p.Asp19His The association of ABCG8 D19H and LDL-C levels was recently replicated in a GWA study (P = 1610211 ) [11]. Login to comment 211 ABCG8 p.Asp19His The association of ABCG8 D19H and LDL-C levels was recently replicated in a GWA study (P = 1610211 ) [11]. Login to comment 212 ABCG8 p.Asp19His ABCG8 p.Asp19His The association of ABCG8 D19H and LDL-C levels was recently replicated in a GWA study (P = 1610211 ) [11]. Login to comment 213 ABCG8 p.Asp19His Decreased LDL-C levels of atorvastatin treatment were not associated with the ABCG8 D19H SNP [57]. Login to comment 214 ABCG8 p.Asp19His Decreased LDL-C levels of atorvastatin treatment were not associated with the ABCG8 D19H SNP [57]. Login to comment 215 ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys The other ABCG5/G8 SNPs (Q604E, Y54C, T400K and A632V) did not show any significant interactions with the CYP7A1 polymorphism. Login to comment 216 ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys No association was observed between ABCG8 T400K and total and LDL-C levels [32-34,36,38-41]. Login to comment 217 ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys The other ABCG5/G8 SNPs (Q604E, Y54C, T400K and A632V) did not show any significant interactions with the CYP7A1 polymorphism. Login to comment 218 ABCG8 p.Thr400Lys No association was observed between ABCG8 T400K and total and LDL-C levels [32-34,36,38-41]. Login to comment 224 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys The remaining SNPs (Q604E, D19H, Y54C, and T400K) were not associated with plasma lipid levels [60]. Login to comment 225 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys The remaining SNPs (Q604E, D19H, Y54C, and T400K) were not associated with plasma lipid levels [60]. Login to comment 226 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys The remaining SNPs (Q604E, D19H, Y54C, and T400K) were not associated with plasma lipid levels [60]. Login to comment 229 ABCG8 p.Asp19His Based on the HapMap CEU data, these SNPs are in complete LD with each other and with D19H that showed similar association result. Login to comment 230 ABCG8 p.Asp19His Based on the HapMap CEU data, these SNPs are in complete LD with each other and with D19H that showed similar association result. Login to comment 231 ABCG8 p.Asp19His Based on the HapMap CEU data, these SNPs are in complete LD with each other and with D19H that showed similar association result. Login to comment 239 ABCG5 p.Gln604Glu ABCG8 p.Thr400Lys ABCG8 p.Met429Val ABCG8 p.Met429Val 020 0.062 2.509 0.012 Systolic blood pressure 0.001 0.001 0.066 2.590 0.010 ApoA1/ApoB Waist circumference 20.019 0.002 20.198 27.862 0.000 Age 20.005 0.001 20.089 23.544 0.000 Han TC Waist circumference 0.019 0.005 0.131 3.767 0.000 Age 0.009 0.003 0.126 3.443 0.001 Alcohol consumption 0.302 0.057 0.179 5.286 0.000 Diastolic blood pressure 0.017 0.004 0.168 4.661 0.000 Blood glucose 0.066 0.024 0.095 2.723 0.007 TG Waist circumference 0.075 0.013 0.254 5.661 0.000 Cigarette smoking 0.805 0.165 0.185 4.889 0.000 Blood glucose 0.265 0.049 0.186 5.407 0.000 Diastolic blood pressure 0.030 0.007 0.147 4.120 0.000 Age 20.017 0.005 20.113 23.114 0.002 Alcohol consumption 0.269 0.132 0.078 2.040 0.042 Body mass index 20.065 0.030 20.096 22.157 0.031 HDL-C Waist circumference 20.011 0.002 20.155 24.279 0.000 Gender 0.130 0.046 0.120 2.825 0.005 Alcohol consumption 0.111 0.034 0.138 3.317 0.001 LDL-C Age 0.012 0.002 0.212 6.219 0.000 Body mass index 0.026 0.012 0.101 2.222 0.027 Waist circumference 0.013 0.005 0.115 2.471 0.014 Cigarette smoking 20.310 0.072 20.187 24.227 0.000 hypercholesterolaemic Japanese subjects, Miwa et al. [42] reported that carriers of the ABCG8 M429V or a specific haplotype (wild-type allele of ABCG5 Q604E, and wild-type alleles of ABCG8 C54Y, T400K, and M429V) had higher cholesterol absorption efficiency than non-carriers. Login to comment 240 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys However, no difference was observed in serum lipid profiles in relation to common SNPs studied previously in Caucasian populations (ABCG5 Q604E and ABCG8 A632V, T400K, D19H and C54Y). Login to comment 241 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Met429Val ABCG8 p.Met429Val 020 0.062 2.509 0.012 Systolic blood pressure 0.001 0.001 0.066 2.590 0.010 ApoA1/ApoB Waist circumference 20.019 0.002 20.198 27.862 0.000 Age 20.005 0.001 20.089 23.544 0.000 Han TC Waist circumference 0.019 0.005 0.131 3.767 0.000 Age 0.009 0.003 0.126 3.443 0.001 Alcohol consumption 0.302 0.057 0.179 5.286 0.000 Diastolic blood pressure 0.017 0.004 0.168 4.661 0.000 Blood glucose 0.066 0.024 0.095 2.723 0.007 TG Waist circumference 0.075 0.013 0.254 5.661 0.000 Cigarette smoking 0.805 0.165 0.185 4.889 0.000 Blood glucose 0.265 0.049 0.186 5.407 0.000 Diastolic blood pressure 0.030 0.007 0.147 4.120 0.000 Age 20.017 0.005 20.113 23.114 0.002 Alcohol consumption 0.269 0.132 0.078 2.040 0.042 Body mass index 20.065 0.030 20.096 22.157 0.031 HDL-C Waist circumference 20.011 0.002 20.155 24.279 0.000 Gender 0.130 0.046 0.120 2.825 0.005 Alcohol consumption 0.111 0.034 0.138 3.317 0.001 LDL-C Age 0.012 0.002 0.212 6.219 0.000 Body mass index 0.026 0.012 0.101 2.222 0.027 Waist circumference 0.013 0.005 0.115 2.471 0.014 Cigarette smoking 20.310 0.072 20.187 24.227 0.000 hypercholesterolaemic Japanese subjects, Miwa et al. [42] reported that carriers of the ABCG8 M429V or a specific haplotype (wild-type allele of ABCG5 Q604E, and wild-type alleles of ABCG8 C54Y, T400K, and M429V) had higher cholesterol absorption efficiency than non-carriers. Login to comment 242 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Asp19His ABCG8 p.Thr400Lys However, no difference was observed in serum lipid profiles in relation to common SNPs studied previously in Caucasian populations (ABCG5 Q604E and ABCG8 A632V, T400K, D19H and C54Y). Login to comment 243 ABCG8 p.Asp19His This might be explained by the fact that carriers of ABCG8 D19H and A632V SNPs are rare among Japanese compared to Caucasian populations. Login to comment 244 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Interestingly, in 1046 Chinese, Chen et al. [43] observed that the heterozygote of ABCG8 D19H had higher serum total and LDL-C levels than homozygote DD, which is opposite to the effect observed in Caucasian populations. Login to comment 246 ABCG8 p.Thr400Lys No association with ABCG8 C54Y and T400K regarding total and LDL-C levels was observed. Login to comment 251 ABCG8 p.Thr400Lys Recently, in 845 self-identified Puerto Ricans from Boston, Junyent et al. [38] reported that ABCG5/G8 (i7892T.C, rs4131229; 5U145A.C, rs3806471; Y54C; T400K) SNPs were significantly associated with HDL-C concentrations. Login to comment 252 ABCG8 p.Thr400Lys Recently, in 845 self-identified Puerto Ricans from Boston, Junyent et al. [38] reported that ABCG5/G8 (i7892T.C, rs4131229; 5U145A.C, rs3806471; Y54C; T400K) SNPs were significantly associated with HDL-C concentrations. Login to comment 254 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys Recently, in 845 self-identified Puerto Ricans from Boston, Junyent et al. [38] reported that ABCG5/G8 (i7892T.C, rs4131229; 5U145A.C, rs3806471; Y54C; T400K) SNPs were significantly associated with HDL-C concentrations. Login to comment 255 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Thr400Lys Carriers of the minor alleles at ABCG5/G8 (Q604E, D19H, i14222 A.G, rs6709904) SNPs displayed lower levels of HDL-C only if they were smokers. Login to comment 256 ABCG8 p.Thr400Lys Also, for ABCG8 T400K, smokers, but not nonsmokers, homozygous for the T allele displayed lower HDL-C levels. Login to comment 257 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Carriers of the minor alleles at ABCG5/G8 (Q604E, D19H, i14222 A.G, rs6709904) SNPs displayed lower levels of HDL-C only if they were smokers. Login to comment 258 ABCG8 p.Thr400Lys Also, for ABCG8 T400K, smokers, but not nonsmokers, homozygous for the T allele displayed lower HDL-C levels. Login to comment 261 ABCG8 p.Thr400Lys Recently, significant gene-gene interactions for HDL-C were found between ABCG8 (5U145 A.C, T54C A.G, T400K C.A) SNPs and ABCA1_i48168 G.A genetic variant, in which carriers of the 5U145C and 54C alleles, and homozygotes for the T400 allele at ABCG8 genetic variants displayed lower HDL-C concentrations than homozygotes for the 5U145A and T54 alleles, and heterozygotes for the 400K allele at ABCG8 SNPs, only if they were also homozygous for the minor allele (A) at the aforementioned ABCA1 SNP [63]. Login to comment 262 ABCG8 p.Thr400Lys Recently, significant gene-gene interactions for HDL-C were found between ABCG8 (5U145 A.C, T54C A.G, T400K C.A) SNPs and ABCA1_i48168 G.A genetic variant, in which carriers of the 5U145C and 54C alleles, and homozygotes for the T400 allele at ABCG8 genetic variants displayed lower HDL-C concentrations than homozygotes for the 5U145A and T54 alleles, and heterozygotes for the 400K allele at ABCG8 SNPs, only if they were also homozygous for the minor allele (A) at the aforementioned ABCA1 SNP [63]. Login to comment 264 ABCG8 p.Thr400Lys Recently, significant gene-gene interactions for HDL-C were found between ABCG8 (5U145 A.C, T54C A.G, T400K C.A) SNPs and ABCA1_i48168 G.A genetic variant, in which carriers of the 5U145C and 54C alleles, and homozygotes for the T400 allele at ABCG8 genetic variants displayed lower HDL-C concentrations than homozygotes for the 5U145A and T54 alleles, and heterozygotes for the 400K allele at ABCG8 SNPs, only if they were also homozygous for the minor allele (A) at the aforementioned ABCA1 SNP [63]. Login to comment