Relationship between a novel polymorphism of lipoprotein lipase gene and coronary heart disease
Su, Z.; Zhang, S.; Hou, Y.; Zhang, L.; Liao, L.; Xiao, C.
Chinese Medical Journal 115(5): 677-680
2002
ISSN/ISBN: 0366-6999 PMID: 12133533 Document Number: 544917
Objective: To investigate polymorphisms in the gene for lipoprotein lipase (LPL) in Chinese populations with coronary heart disease (CHD) and to determine the relationship between these polymorphisms in LPL gene and CHD. Methods: A total of 102 CHD patients from the West China Hospital of Sichuan University were evaluated . Genomic DNA was extracted from these patients and from normal control subjects using a salting out method. The entire coding region and flanking sequences of all coding exons of the LPL gene were amplified by PCR technique and PCR products were detected by denaturing high-performance liquid chromatography (DHPLC) and sequenced with a dideoxy terminal termination method. Results: A novel polymorphic site, G830A, that is within the fifth exon of the LPL gene was found. The 192 codon CGA was changed into CAA and resulted in the substitution of glutamine for arginine. Between the control and CHD groups, chi-square test showed no significant difference in the frequencies of the A/A genotype and A allele (P>0.05). However, the frequencies of A/A genotype and A allele (0.653 and 0.786) in CHD patients with high plasma triglyceride/low plasma high density lipoprotein cholesterol were higher than those (0.415 and 0.642) in CHD patients without hyperlipidaemia (P<0.05). Conclusion: No direct association is found between the LPL Arg192->Gln substitution polymorphism and CHD, but there is a significant positive correlation between the A/A genotype of the LPL gene and CHD associated with high triglyceride/low high density lipoprotein cholesterol profile. This study may provide new data for exploring the molecular mechanism of CHD.