| Objective:(1) To discover the genotypic frequencies,allelic frequencies and the haplotype distribution of the four SNPs (rs2048327,rs3127599,rs7767084 and rs10755578) in SLC22A3-LPAL2-LPA gene in Chinese Han Population.(2) To investigate the relationship among the four SNPs,haplotype and the occurrence of CAD in Chinese Han Population.Methods:(1) Collected the information about the four SNPs from the National Center for Biotechnology Information (NCBI). The primers were designed with Primer Premier 5.0 software and tested with the Blast software on-line for the specificity.(2) The genotypes of the four SNPs were checked with PCR-SSCP and nucleotide sequencing. (3) The frequencies of the genotypes and alleles were calculated with SPSS17.0; the haplotype were accounted with SHEsis software on-line.Results:(1) In rs2048327, genotype AA and AG was found in both groups, but no GG was found, and the frequency of allele G was different between 2 groups(19.7%vs11.1%,P=0.002);(2) There were genotype AG and GG in CAD and control groups but not AA in rs3127599, and the frequency of allele A was different between 2 groups(7.6%vs13.2%,P=0.017);(3) Genotype CC,CT and TT in rs7767084 were found in both groups, and the frequency of allele C was different between 2 groups(16.4%vs30.7%,P=0.000);(4) Genotype CG and GG were seen in rs10755578 of CAD and control groups, but no CC, and the frequency of allele C was different between 2 groups(18.5%vs12.7%, P=0.038); the frequencies of minor allele of the other SNPs were also different significantly after removing the confounding factors with logistical analysis except this one;(5) There was also statistical significance in the haplotype AGC,GGC,AGT and GGT between CAD and control groups(P<0.05), but not in the levels of TC, TG, HDL and LDL among different genotypes (P>0.05). Conclusion:(1)The genetic polymorphisms in rs2048327-rs3127599-rs7767084 may be associated with the development of the CAD in the Chinese Han population of southwestern area.(2)The incidence rate of the CAD in the crowd with haplotype GGC, AGT and GGT may be even higher.(3)There may be no association between genotype and the levels of TC, TG, HDL and LDL. |