APOE gene ɛ4 allele (388C‐526C) effects on serum lipids and risk of coronary artery disease in southern Chinese Hakka population

Abstract

Objective To analyze the relationship of Apolipoprotein E (APOE) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene polymorphisms with coronary artery disease (CAD). Methods 1,129 CAD patients and 1,014 non‐CAD controls were included in the study, and relevant information and medical records were collected. The single‐nucleotide polymorphisms (SNPs) were analyzed, including rs429358, rs7412 in APOE gene and rs2306283, rs4149056 in SLCO1B1 gene. Results The CAD patients’ average age was 66.3 ± 10.7 years, while 65.5 ± 12.0 years in controls. The frequencies of APOE allele ɛ3, ɛ4, and ɛ2 were 83.01%, 10.08%, and 6.91% respectively. There were statistically significant differences in genotype ɛ3/ɛ4 (χ2 = 8.077, p = 0.005) in CAD patients compared with the controls. The SLCO1B1 genotype *1b/*1b and haplotype *1b showed the highest frequency in the study sample. Moreover, ε4 carriers had significantly lower HDL‐C, Apo‐A1 levels than ε3 carriers among CAD patients, while ε2 carriers showed lower LDL‐C, Apo‐B level, and higher Apo‐A1/Apo‐B level than ε3 and ε4 carriers. In controls, ε2 carriers showed lower LDL‐C and Apo‐B level, higher Apo‐A1, and Apo‐A1/Apo‐B level than ε4 carriers. Logistic regression analysis showed that high LDL‐C and Apo‐B level, low HDL‐C level, smoking, and the ε4 allele were risks for the presence of CAD. Conclusions APOE ε4 allele may be associated with susceptibility to CAD in southern Chinese Hakka population. It indicated that the APOE SNPs rs429358 and rs7412 are associated with CAD, but not SNPs rs2306283 and rs4149056 of SLCO1B1 gene.

Association of APOE (rs429358 and rs7412) and PON1 (Q192R and L55M) Variants with Myocardial Infarction in the Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan

“…Exon 4 of the gene has two common SNPs: rs429358 (388 T > C) and rs7412 (526 C > T). Moreover, three alleles (ɛ2(388 T–526 T), ɛ3(388 T-526C), ɛ4(388C-526C)) and six genotypes (ɛ2/ɛ2, ɛ2/ɛ3, ɛ2/ɛ4, ɛ3/ɛ3, ɛ3/ɛ4 and ɛ4/ɛ4) can be formed by the two SNPs [ 24 , 25 ]. Since allele 3 is the most prevalent in populations, it is referred to as “wild-type.”The alleles 2 and 4 are considered variants [ 26 ].…”

APOE Gene Variation’s Impact on Cardiovascular Health: A Case-Control Study

“…Additionally, the combination of the 388 T and 526 C alleles represents the ε3 allele (wild-type) that is frequently seen in populations. Generally, the alleles ε2 and ε4 are regarded as pathogenic [ 13 ]. Allele frequencies for rs429358 and rs7412 are 0.1425 and 0.06542, respectively, in the entire gnomAD population, which includes sequencing data from 100,000 subjects from various disease-specific and population-specific genetic studies [ 14 ].…”

Association of Different Combinations of ALDH2 rs671, APOE rs429358, rs7412 Polymorphisms with Hypertension in Middle-Aged and Elderly People: A Case–Control Study

“…15 There are two common polymorphisms in APOE gene: rs429358 (388T>C, Cys112Arg) and rs7412 (526C>T, Arg158Cys), and these two polymorphisms constitute three major alleles: ɛ2(388T-526T), ɛ3(388T-526C), ɛ4(388C-526C). 22,23 Aldehyde dehydrogenases (ALDH) are a class of nicotinamide adenine dinucleotide (NAD) (P)+ dependent enzymes, which can utilize NAD (P) + as a cofactor to participate in the oxidation and metabolism of active aldehydes. 24 Among ALDH family members, ALDH2 has been studied most extensively.…”