ISSN:
1432-1203
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Biologie
,
Medizin
Notizen:
Abstract 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(ΔK107)(2 ×), apo A-I(K107M)(1 ×), and apo A-I(E41R)(1 ×). 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(ΔK107) who had low levels of high density lipoprotein (HDL)cholesterol. Therefore, and since the apo A-I(ΔK107) 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(ΔK107) 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 AI(ΔK107) heterozygotes but only 2 of 17 female apo AI(ΔK107) 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(ΔK107) decreases HDL-cholesterol and increases triglycerides in men but not in women.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00207375
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