Population frequency of apolipoprotein E5 (Glu3→Lys) and E7 (Glu244→Lys, Glu245→Lys) variants in western Japana

Abstract

Apolipoprotein (apo) E modulates the catabolism of chylomicrons and of very low density lipoprotein remnants. It has three major isoforms (apo E2, E3, E4) and some rare variants. To detect the variants of apo E, blood specimens from 1269 Japanese subjects were analyzed using isoelectric focusing with immunoblotting. The E5 and E7 variants were identified by IEF in 2 and 18 subjects, respectively. Both E5 (Glu3→Lys) carriers were confirmed by PCR‐mediated site‐directed mutagenesis, and all E7 (Glu244→Lys, Glu245→Lys) carriers were confirmed by the amplification refractory mutation system. The relative frequencies of the ε5 and ε7 alleles were 0.001 and 0.007, respectively. High concentrations of total cholesterol (>220 mg/dl) were detected in five of the subjects expressing apo E7 and one subject expressing apo E5, and eight subjects heterozygous for apo E7 showed elevated plasma triglyceride concentrations (>150 mg/dl). In 621 healthy subjects, the mean triglyceride concentration in subjects with apo E7/3 appeared to be higher than in those with apo E3/3, but the difference was not statistically significant.

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia

“…As shown in Table 2, statins were given in four cases (No. 3,6,10,15), but only one case (No. 23) showed LDL-C levels above 140 mg/dL.…”

Apolipoprotein E polymorphism in the Greek population

“…The ~3 allele is the most common allele in every population. The Japanese population has a low ~2 allele frequency (4.0%) (Matsunaga et al 1995), while the Chinese population has a low ~4 frequency (7.4%) (Hallman et al 1991). Also among Caucasian populations there is a significant variation in the allele frequencies.…”

Gene environment interaction of GALNT2 and APOE gene with hypertension in the Chinese Han Population

“…Some previous studies have suggested that polymorphism at +2836 G>A of the APOE gene is strongly related to the susceptibility to hypertension; the A allele of the APOE gene may be a risk factor for hypertension in Chinese Hui individuals while the G allele may serve as a protective factor for hypertension. This genetic variation at the +2836 G>A site of the APOE gene was first described by Matsunaga et al [17] who demonstrated that the G>A mutation changed glutamic acid into a lysine residue. Additionally, polymorphisms of the APOE gene have also been correlated with plasma lipid levels and susceptibility to hypertension in a variety of ethnic groups, although there have been inconsistent results [18].…”