BACKGROUND: Studies have shown that adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene influences atherosclerosis. Studies have also demonstrated that cerebral infarction does not occur often in pre-menopausal women. It has been, therefore, assumed that sex plays a role in R219K polymorphism of ABCA1 gene and cerebral infarction.OBJECTIVE: To explore the relationship between lipid metabolism-correlated R219K polymorphism of ABCA1 gene, risk factors of cerebral infarction and lipid level, and to determine whether there were significant differences in gender between R219K polymorphism of ABCA1 gene and cerebral infarction.DESIGN, TIME AND SETTING: A multicentral and non-randomized, controlled study based on gene polymorphism was performed at the Chinese National Human Genome Center, and lipid concentrations were measured at Beijing Xuanwu Hospital. Patients with cerebral infarction and healthy subjects were enrolled from eight hospitals of six provinces of China between October 2002 and December 2004.PARTICIPANTS: There were 177 patients in the cerebral infarction group, including 119 males and 58 females, with a mean age of (60±13) years, and 234 healthy subjects in the normal control group, including 79 males and 155 females, with a mean age of (58±12) years.METHODS: R219K polymorphism of the ABCA1 gene was detected using polymerase chain reaction-restriction fragment length polymorphism, and blood lipid concentrations were simultaneously measured.MAIN OUTCOME MEASURES: Genotype and allele frequency of R219K polymorphic site, and blood lipid concentrations.RESULTS: RR genotype and R allele frequency of males in the cerebral infarction were significantly greater than males in the normal control group [RR genotype: χ2=5.305, OR (95% C/), 2.326 (1.120-4.828), P< 0.05; R allele: χ2=4.219, OR (95% C/), 1.528 (1.019 2.292), P< 0.05]. In addition, RR genotype and R allele frequency of males were significantly greater than females in the cerebral infarction group [RR genotype: χ2=5.172, OR (95% C/), 2.604 (1.120 6.057), P< 0.05; R allele: χ2=4.818, OR (95% C/), 1.652 (1.053-2.589), P< 0.05]. There were no significant differences between genotype and lipid concentrations between the two groups (P> 0.05).CONCLUSION: The RR genotype of ABCA1 R219K might be associated with onset of cerebral infarction in males, but blood lipid concentrations do not relate to R219K polymorphism.