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

Abstract

Background: Apolipoprotein E (ApoE) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) regulate lipid metabolism. However, the relationship between genetic polymorphisms of APOE and SLCO1B1 and 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 the APOE gene and rs2306283 and rs4149056 SNPs in the SLCO1B1 gene were analyzed by fluorescence polymerase chain reaction (PCR). Results: The genotype ϵ3/ϵ3 was the most common APOE genotype, with ϵ3 being the allele with the highest frequency, followed by ϵ4 and ϵ2. Statistically significant differences of genotype ϵ2/ϵ2 (χ2 = 3.866, P = 0.049), ϵ2/ϵ3 (χ2 = 20.030, P < 0.001), ϵ3/ϵ4 (χ2 = 16.960, P < 0.001), and ϵ4/ϵ4 (χ2 = 4.786, P = 0.029) between CI patients and controls were detected. The SLCO1B1 genotype*1b/*1b and haplotype*1b showed the highest frequency in the study sample. There was no statistically significant difference in the frequencies of SLCO1B1 genotypes and haplotypes among CI patients comparing with controls. Moreover, ϵ4 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 ϵ2 and ϵ3 carriers, but ϵ2 carriers showed lower LDL-C and Apo-B and higher Apo-A1/Apo-B than ϵ3 and ϵ4 carriers. Further, logistic regression analysis revealed that high LDL-C, high ApoB, smoking, hypertension and the ϵ4 allele were risks for the presence of CI. Conclusions: This study indicated that the APOE SNPs rs429358 and rs7412 may be associated with susceptibility to cerebral infarction in southern Chinese Hakka population.