title: [Single nucleotide polymorphisms of genes associated with high density lipoprotein metabolism in Chinese population].
abstract: OBJECTIVE
  To study the single nucleotide polymorphisms in genes associated with the high density lipoprotein (HDL) metabolism in Chinese population.
  
  
  METHODS
  Two hundred and nine normal Han ethnic subjects, aged 59+/-10 years, were recruited from 5 medical centers in western part of China. DNA was extracted by proteinase K digestion, phenol and chloroform extraction as well as isopropanol precipitation. The polymerase chain reaction (PCR)-restriction fragment length polymorphisms (RFLP) in conjunction with sequencing were employed to test the single nucleotide polymorphisms (SNPs) in ATP-binding cassette transporter (ABCA1), cholesteryl ester transfer protein (CETP) and lipoprotein lipase (LPL) genes.
  
  
  RESULTS
  The allelic frequencies of A and G of ABCA1 gene are 53.4% and 46.6%; of B2 and B1 allele of CETP, 41.0% and 59.0%; of HindIII (-) and (+) allele of LPL, 18.9% and 81.1%; and of PvuII(+) and (-) allele of LPL, 66.0% and 34.0%, respectively. All genotype frequencies fit well with the Hardy-Weinberg equilibrium; the significant linkage disequilibrium exists between LPL HindIII(+)and PvuII(+) polymorphisms. All of the RFLP in these genes result from the single nucleic substitution in fragment recognized by corresponding restriction enzymes.
  
  
  CONCLUSIONS
  The genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.
authors.affiliation: Department of Cardiology, Medical College, Xi'an Jiaotong University, Xi'an, Shaanxi, 710061 PR China. cuihanbin@sina.com
authors.forename: Han-bin
authors.initials: HB
authors.lastname: Cui
authors.forename: Chang-cong
authors.initials: CC
authors.lastname: Cui
authors.forename: Yi
authors.initials: Y
authors.lastname: Ma
authors.forename: Dong-qi
authors.initials: DQ
authors.lastname: Wang
authors.forename: Chen
authors.initials: C
authors.lastname: Huang
authors.forename: Ai-feng
authors.initials: AF
authors.lastname: Zhang
authors.forename: Jiang-fang
authors.initials: JF
authors.lastname: Lian
authors.forename: Xian-ming
authors.initials: XM
authors.lastname: Su
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D053480:Cholesterol Ester Transfer Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008071:Lipoprotein Lipase / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D053480:Cholesterol Ester Transfer Proteins; D008075:Lipoproteins, HDL; D008071:Lipoprotein Lipase