Single nucleotide polymorphisms of genes associated with high density lipoprotein metabolism in Chinese population.
- Author:
Han-bin CUI
1
;
Chang-cong CUI
;
Yi MA
;
Dong-qi WANG
;
Chen HUANG
;
Ai-feng ZHANG
;
Jiang-fang LIAN
;
Xian-ming SU
Author Information
- Publication Type:Journal Article
- MeSH: ATP Binding Cassette Transporter 1; ATP-Binding Cassette Transporters; genetics; Aged; Asian Continental Ancestry Group; genetics; Base Sequence; China; Cholesterol Ester Transfer Proteins; genetics; Female; Gene Frequency; Genotype; Humans; Linkage Disequilibrium; Lipoprotein Lipase; genetics; Lipoproteins, HDL; metabolism; Male; Middle Aged; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2005;22(1):22-26
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the single nucleotide polymorphisms in genes associated with the high density lipoprotein (HDL) metabolism in Chinese population.
METHODSTwo 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.
RESULTSThe 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.
CONCLUSIONThe genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.
