Association of hypercholesterolemia and apolipoprotein E4 in school children

Yanagi, Hisako; Shimakura, Y; Yamanouchi, Yasuko; Watanabe, Yuka; Tsuchiya, Shigeru; Hamaguchi, Hideo

doi:10.1111/j.1399-0004.1990.tb03579.x

Cited by 12 publications

(2 citation statements)

References 29 publications

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“…Two other mutants, apo E4 (Cysll2+Arg, Arg274+His) and apo E4 (Ser296jArg) were found in normolipidemic probands (van den Maagdenberg et al 1993). Apo E7 has been found both in hyperlipidemic subjects, and in normolipidemic Japanese adults and children (Yamamura et al 1984b, Yanagi et al 1990. In this study, we detected eight subjects expressing apo E7 with hypertriglyceridemia and five subjects expressing apo E7 with hypercholesterolemia.…”

Section: Discussionmentioning

confidence: 53%

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

et al. 1995

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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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Section: Discussionmentioning

confidence: 53%

“…These variants have also been found in several unrelated patients with atherosclerotic disease (Yamamura et al 1984b). Apo E5 (Glu3+Lys) and E7 (Glu244+Lys, Glu245+Lys) have been found only in Japanese subjects (Tajima et al 1989, Maeda et al 1989a, Maeda et al 1989b, Kitahara et al 1990, Tsuchiya et al 1987, Yanagi et al 1990).…”

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confidence: 93%