Frequency of Apolipoprotein A-I Mutants in the German Population

Assmann, Gerd; Menzel, H J; Kladetzky, R. G.; Büttner, G.

doi:10.1515/cclm.1984.22.9.585

Cited by 3 publications

(5 citation statements)

References 11 publications

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“…Indeed, Apo E4 cannot form a disulfide bond with Apo All and its transfer from HDL to triglyccride-rich lipoproteins is thus enhanced [11]. Several studies have shown that carriers of the e4 allele suffer myocardial infarctions earlier in life than carriers of the r.2 allele [12,13].…”

Section: Introductionmentioning

confidence: 99%

Direct Phenotyping of Human Apolipoprotein E in Plasma: Application to Population Frequency Distribution in Paris (France)

et al. 1993

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Apolipoprotein E (Apo E) is a component of VLDL and HDL and plays a significant role in the regulation of cholesterol concentration. An improvement in isoelectric focusing for Apo E phenotyping is presented: the plasma Apo E was dissociated from lipoproteins by the use of Tween 20; the optimal concentration of type V neuraminidase was determined (1 U/ml); up to 48 samples were analyzed per plate and revealed by immunoblotting. Using this method, we have determined Apo E phenotypes and estimated their association with total cholesterol and Apo B levels in 498 healthy blood donors in Paris (France). The relative frequencies of Apo E alleles Ε2, Ε3 and Ε4 in this population were 0.079, 0.801 and 0.120, respectively. The association between Apo E phenotypes and concentration of Apo B-containing lipoproteins was confirmed (Apo B (g/l): E4/E3 subjects, 1.10 ± 0.29; E3/E2 subjects, 0.93 ± 0.22; both significantly different from E3/E3 subjects, 0.99 ± 0.28). Total cholesterol (mmol/l): E4/E3 subjects, 5.43 ± 1.15; E3/E2 subjects, 4.79 ± 0.83; both significantly different from E3/E3 subjects, 5.03 ± 1.11.

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Section: Introductionmentioning

confidence: 99%

Direct Phenotyping of Human Apolipoprotein E in Plasma: Application to Population Frequency Distribution in Paris (France)

et al. 1993

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“…This question appeared to be of particular interest, as both the patient with apo A-I (Glu 198+Lys) identified in our screening study and the proband first described in Munster (17) were hyperlipoproteinemic. Although a high percentage of both the adults (five of 10) and the children (three of nine) in the affected kindred had hyperlipoproteinemia of types IIa, IIb, or IV, no consistent relationship between apo A-I (Glu 198+Lys) and hyperlipoproteinemia could be demonstrated (Fig.…”

Section: Discussionmentioning

confidence: 96%

“…So far only two patients with apo A-I (Glu 198+Lys) have been described (17). Apo A-I (Glu 198+Lys) has been identified for the first time in a hyperlipoproteinemic man during a population study carried out in Miinster (GFR) and was referred to as apo A-I Miinster 4 (17).…”

Section: Discussionmentioning

confidence: 99%

“…Apo A-I (Glu 198+Lys) has been identified for the first time in a hyperlipoproteinemic man during a population study carried out in Miinster (GFR) and was referred to as apo A-I Miinster 4 (17). One additional subject with this apo A-I variant was detected in Marburg (GFR).…”

Section: Discussionmentioning

confidence: 99%

“…Based on the family data presented here, it is therefore neither possible to show a consistent relation of apo A-I (Glu 198+Lys) with low HDL-C, apo A-I or apo A-I1 nor to exclude a moderate effect of the variant on HDL levels. The first patient with apo A-I (Glu 198+Lys) reported from Munster (GFR) (17) presented with a normal HDL concentration.…”

Section: Discussionmentioning

confidence: 99%

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Apolipoprotein A-I (Glu 198→Lys): A Mutant of the Major Apolipoprotein of High-Density Lipoproteins Occurring in a Family with Dyslipoproteinemia

et al. 1988

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Screening for naturally occurring apolipoprotein A-I variants: apo A-I(?K107) is associated with low HDL-cholesterol levels in men but not in women

et al. 1995

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Isoelectric focussing (IEF) in carrier ampholyte-generated pH gradients and hybrid isoelectric focussing (HIEF) in immobilized pH gradients under nondenaturing conditions were used in parallel to screen 5,500 plasma samples for naturally occurring variants of apolipoprotein A-I (apo A-I). The following defects were identified in four unrelated subjects heterozygous for apo A-I variants: apo A-I(delta K107)(2 x), apo A-I(K107M)(1 x), and apo A-I(E41R)(1 x). The later variant is a novel finding. Family studies did not reveal any association of apo A-I(K107M) and apo A-I(E41R) with dyslipidemia, but identified several heterozygotes for apo A-I(delta K107) who had low levels of high density lipoprotein (HDL)-cholesterol. Therefore, and since the apo A-I(delta K107) is the most frequent apo A-I variant in Germany (1: 5,000) we evaluated our data and that reported from 11 families with 32 heterozygous carriers and 30 unaffected controls. This analysis revealed that apo A-I(delta K107) is associated with lower HDL-cholesterol (-30%) and higher triglycerides (+48%) in men but not in women as compared with unaffected family members as well as with controls from the Prospective Cardiovascular Münster (PROCAM) study. Moreover, 11 of 15 male apo A-I(delta K107) heterozygotes but only 2 of 17 female apo A-I(delta K107) heterozygotes had HDL-cholesterol levels below the 20th percentile of sex-matched controls from the PROCAM study. We conclude that heterozygosity for apo A-I(delta K107) decreases HDL-cholesterol and increases triglycerides in men but not in women.

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Frequency of Apolipoprotein A-I Mutants in the German Population

Cited by 3 publications

References 11 publications

Direct Phenotyping of Human Apolipoprotein E in Plasma: Application to Population Frequency Distribution in Paris (France)

Direct Phenotyping of Human Apolipoprotein E in Plasma: Application to Population Frequency Distribution in Paris (France)

Apolipoprotein A-I (Glu 198→Lys): A Mutant of the Major Apolipoprotein of High-Density Lipoproteins Occurring in a Family with Dyslipoproteinemia

Screening for naturally occurring apolipoprotein A-I variants: apo A-I(?K107) is associated with low HDL-cholesterol levels in men but not in women

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