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Objective:To analyze the correlation of single nucleotide polymorphisms ( SNP) of ATP binding cassette transporter A1 gene (ABCA1) and lower extremity atherosclerotic disease (LEAD). Methods: The clinical data and peripheral blood were col-lected from 630 participants (314 LEAD cases and 316 normal controls) in Han population of Minnan. The 9 SNP genotypes in the ABCA1 gene were detected by Sequenom MassArray. Results:Among the 9 SNP genotypes, rs2980083 was rejected because it wasn' t in accordance with Hardy-Weinberg equilibrium. Obvious linkage disequilibrium was found between rs2066714 and rs2066715, rs1800976 and rs2246293, rs2246293 and rs2980083, and rs1800976 and rs2980083(D′>0. 9,r2 >1/3). There were no significant differences (P>0. 05) in 6 haplotypes of ABCA1 gene groups between the LEAD cases and the normal controls. No significant differ-ences (P>0. 05) were found in frequency distribution between the LEAD cases and the normal controls in 8 SNP according to the re-sults of genotype statistics. There was no onset risk of LEAD according to the gene logistic regression analysis. Conclusion:The SNPs of rs10124755, rs2980083, rs1800976, rs4149341, rs2066714, rs2066715, rs2066716, rs2230808 and rs2246293 might not correlate with the susceptibility of LEAD in Han population of Minnan.
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Objective To examine the expression of ATP-binding cassette transporter A1(ABCA1)in eukaryotie cells and the effect of arsenic resistance after the transfection of eukaryotic expression vector containing ABCA1 gene.Methods HeLa cells were transfected with the recombinant plasmid by lipofectaonmine 2000 (recombinant plasmid group),empty plasmid and untransfected HeLa cell as the control group.The level of the mRNA was examined by real-time PCR,and the expression of ABCA1 protein wag examined by Western blot,the change of cell survival rate was examined by methyl thiazolyl tetrazolium(MTT)after exposure in a series of arsenic [0(contro1),4,8,16,32,64,128 μmol/L]for 48 hours.Results Expression level of ABCA1 mRNA in recombinant plasmid,empty plasmid and untransfeeted groups was(2.09±0.08)×10-4,(0.09±0.02)×10-4,(0.08±0.02)×10-4,there was a significant difference between the groups(F=1499.23,P<0.01).The level of ABCA1 mRNA in recombinant plasmid group was higher than empty plasmid and untransfected group(all P<0.01).Western blot showed that specific protein straps existed at 254×103 in all the three groups,with a similar size to the ABCA1 protein.The amount of the recombinant plasmid group was higher than the other two groups.MTT shows that arsenic concentration at 4,8,16,32,64,128 μmol/L,the survival rates of recombinant plasmid group was(94.8±0.9)%,(86.5 ± 2.6)%, (77.8 ± 2.0)%, (56.0 ± 2.0)%, (23.8 ± 1.7)%, (18.6 ± 0.6)%, higher than that of empty plasmid group[ (85.3 ± 1.1)%, (78.7 ± 0.6)%, (67.8 ± 2.4)%, (43.2 ± 1.5)%, (14.5 ± 1.3)%, (8.0 ± 0.4)%], the difference of survival rate had a statistical signifieance(t = 18.985,6.689,5.922,9.504,9.481,32.634, all P < 0.01). Conclusions ABCA1 protein is over expressed in HeLa cells after transfect ABCA1 gene. ABCA1 protein increases resistance of arsenic in HeLa cells.
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Objective To investigate the association between the ATP-binding cassette transporter A1(ABCA1)gene polymorphisms and plasma high density lipoprotein cholesterol(HDL-C)level in Chinese general population.Methods M883I,R1587K and R219K polymorphisms of the ABCA1 gene were detected by polymerase chain reaction-restriction fragment length polymorphism technique in 376 unrelated Chinese healthy subjects.Results In the study population,the subjects with the KK1587 genotype had markedly lower HDL-C levels than those with RR1587 and RK1587 genotypes(P