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 1,028 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 ɛ3/ɛ3 was the most common APOE genotype, with ɛ3 being the allele with the highest frequency, followed by ɛ4 and ɛ2. Statistically significant differences of genotype ɛ2/ɛ2 (c2=3.866, P=0.049), ɛ2/ɛ3 (c2=20.030, P<0.001), ɛ3/ɛ4 (c2=16.960, P<0.001), and ɛ4/ɛ4 (c2=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.

The SNPs rs429358 and rs7412 of APOE gene are Association With Dyslipidemia but Not Cerebral Infarction in Northern Chinese Han population

“…Studies have shown that there is a signi cant association between CI and 4 allele 19,20 , and it has been found that the frequency of 4 allele in Asian with CI is higher than that in Caucasian population 20 , and 4 allele carrier is more likely to develop CI in Asian population 21 . In Chinese population, many studies indicated that 4 allele were the risk for the presence of CI [22][23][24] . In our study we found that the frequency of 4 allele in CI group was signi cantly higher than that in control group (P < 0.01) in North China, which was similar to the results of previous studies on Chinese population, suggesting that the frequency of 4 allele is more higher in CI patients 8,23,24 .…”