The SNPs rs429358 and rs7412 of APOE gene are association with cerebral infarction but not SNPs rs2306283 and rs4149056 of SLCO1B1 gene in southern Chinese Hakka population

Background Apolipoprotein E (ApoE) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) regulate lipid metabolism. However, the relationship between genetic polymorphisms ofAPOEandSLCO1B1and cerebral infarction (CI) remains unclear. Methods A total of 938 CI patients and 1028 control participants were included in the study. The rs429358 and rs7412 single nucleotide polymorphisms (SNPs) in theAPOEgene and rs2306283 and rs4149056 SNPs in theSLCO1B1gene were analyzed by fluorescence polymerase chain reaction (PCR). Results The genotype e3/e3 was the most commonAPOEgenotype, with e3 being the allele with the highest frequency, followed by e4 and e2. Statistically significant differences of genotype e2/e2 (chi(2) = 3.866,P = 0.049), e2/e3 (chi(2) = 20.030,P < 0.001), e3/e4 (chi(2) = 16.960,P < 0.001), and e4/e4 (chi(2) = 4.786,P = 0.029) between CI patients and controls were detected. TheSLCO1B1genotype *1b/*1b and haplotype *1b showed the highest frequency in the study sample. There was no statistically significant difference in the frequencies ofSLCO1B1genotypes and haplotypes among CI patients comparing with controls. Moreover, epsilon 4 carriers had significantly higher low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (Apo-B) and lower apolipoprotein A1 (Apo-A1)/Apo-B levels than epsilon 2 and epsilon 3 carriers, but epsilon 2 carriers showed lower LDL-C and Apo-B and higher Apo-A1/Apo-B than epsilon 3 and epsilon 4 carriers. Further, logistic regression analysis revealed that high LDL-C, high ApoB, smoking, hypertension and the epsilon 4 allele were risks for the presence of CI. Conclusions This study indicated that theAPOESNPs rs429358 and rs7412 may be associated with susceptibility to cerebral infarction in southern Chinese Hakka population.