关键词: 冠心病；FADS1基因；FADS2基因；基因多态性

Abstract:

Objective To investigate the association between the single nucleotide polymorphisms of FADS1 and FADS2 (SNP)
 of polyunsaturated fatty acids metabolic rate-limiting enzymes and coronary heart disease(CHD) and to clarify the action mechanism of FADS1/FADS2 in the occurrence of CHD.Methods 237 patients diagnosed with CHD and 224 healthy controls
from the Han population in Northern China were selected.Questionnaires were used to collect the basic information about individual objects.PCR-RFLP analysis was applied to detect the rs174556 SNP of FADS1 and the rs174617 SNP of FADS2.UNPHASED 3.012 and statistical software SPSS 13.0 were used to analyze the combined effect of two loci and frequency distribution of alleles and genotypes.Results The genotypic frequencies of various sites didn’[KG-*5]t deviate from Hardy-Weinberg equilibrium in both case and control groups (P>0.05).The allelic and genotypic frequency distributions of rs174556 in FADS1 gene showed significant difference between case and control groups.The frequency distributions of allele T and homozygote TT were significantly different between case and control groups (P=0.009,P=0.038).Conclusion The gene polymorphisms of rs174556 in FADS1 gene is very likely to be associated with CHD in Chinese Han population.

Key words: coronary heart disease, FADS1 gene, FADS2 gene, gene polymorphism