Relationship between the I883M polymorphism of ATP-binding cassette transporter 1 gene and cardiovascular disease

Objective To investigate the relationship between the I883M polymorphism of ATP-binding cassette transporter 1(ABCA1) gene and cardiovascular disease in Han population of Guangxi.Methods PCR-RFLP was used to examine ABCA1 gene I883M polymorphism A→G of 227 non-blood-related patients with cardiovascular disease and 162 without cardiovascular disease,comparing the allele frequencies and genotype distributions between the two groups.Results The allele frequencies of ABCA1 gene I883M in control group were as follows:I=0.213,M=0.787.The genotype frequencies were as follows: II=4.32%(7/162),IM=33.95%(55/162),MM=61.73%(100/162);The allele frequencies in the cardiovascular disease group were as follows:I=0.335,M=0.665,and the genotype frequencies were as follows: II=10.57%(24/227),IM=45.81%(104/227),MM=43.61%(99/227);There are very significant differences in the frequencies of ABCA1 gene I883M genotype and alleles between the two groups(P0.01).The frequency of mutant type(IM+MM) in the control group(95.68%) is higher than that in the cardiovascular disease group(89.43%)(P0.05).The ABCA1 883I haplotype may increase the risk of cardiovascular disease.Conclusions These data suggest that ABCA1 gene I883M polymorphisms may be associated with the development of cardiovascular disease in Han population of Guangxi.