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.
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The apoE5 (Glu3Lys) variant, caused by substitution of lysine with glutamic acid at codon 3, has a relative frequency of approximately 0.1% in Japan.
“The apoE5 (Glu3Lys) variant, which is caused by the substitution of lysine with glutamic acid at codon 3, has a relative frequency of 0.1% in Japan.”
From Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys) (2018) · cites this paper as [1]
The common isoforms ε2, ε3, and ε4 can be distinguished at the protein level by isoelectric electrophoresis into apoE2, apoE3, and apoE4.
“The common isoforms ε2, ε3, and ε4 can be distinguished at the protein level by isoelectric electrophoresis into apoE2, apoE3, and apoE4 (Fig.3)14).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [14]
APOE5 (Glu3Lys) is predominantly present in the Japanese population and has been shown to be associated with increased binding to the LDL receptor compared with apoE3.
“APOE5 (Glu3Lys) is predominantly present in the Japanese population14, 104) and has been shown to be associated with increased binding to the LDL receptor compared with apoE3 105).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [14]
APOE2 Dunedin (Arg228Cys), APOE2 (Val236Glu), APOE7 Suita (Glu244,245Lys) (all heterozygotes), and APOE3 (Arg251 Gly, Cys112Arg) in the C-terminal domain were identified as variants that cause hypertriglyceridemia or CHL.
“APOE2 Dunedin (Arg228Cys)121), APOE2 (Val236Glu)122), APOE7 Suita (Glu244,245Lys)123, 14) (all heterozygotes), and APOE3 (Arg251 Gly, Cys112Arg) 122) in the C-terminal domain were identified as variants that cause hypertriglyceridemia or CHL.”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [14]
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References 32 · Cited by 23
- Authors
- Matsunaga, A., Sasaki, J., Moriyama, K., Arakawa, F., Takada, Y., Nishi, K., Hidaka, K., & Arakawa, K.
- Affiliations
- Fukuoka University (JP)
- Corresponding author
- Matsunaga, Akira
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 1995-08
- Volume
- 48
- Issue
- 2
- Pages
- 93-99
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W4306658046
- Cited by
- 23
- References
- 32
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 2 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 1 · 2014: 1
- FWCI
- 0.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Paraoxonase enzyme and polymorphisms
- Keywords
- apolipoprotein E, allele frequency, Japanese population, hypertriglyceridemia, hypercholesterolemia, plasma triglycerides, serum cholesterol, genetic polymorphism
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