DIVERSE EFFECT OF ETHNICITY ON PLASMA LIPOPROTEIN[A] LEVELS IN HETEROZYGOTE PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA

作者：LEITERSDORF E^*; FRIEDLANDER Y; BARD JM; FRUCHART JC; EISENBERG S; STEIN Y

来源：The Journal of Lipid Research, 1991, 32(9): 1513-1519.

• CHOLESTEROL METABOLISM
• HUMAN GENETICS
• POLYMERASE CHAIN REACTION

Plasma lipids, lipoproteins, and lipoprotein[a] (Lp[a]) levels were determined in 216 members of 14 families with familial hypercholesterolemia (FH). Ninety-nine subjects harbored a mutant low density lipoprotein (LDL) receptor allele as confirmed by molecular genetic analysis. Four different mutant alleles were identified, each in a defined genetic group, Druze, Christian-Arabs, and Ashkenazi and Sephardic Jews. The findings in FH subjects (cases) were compared with their nonaffected family members (controls). Plasma Lp[a] levels increased with age in the controls but not in cases and were different among the four genetic groups. Mean plasma Lp[a] levels were significantly higher in cases (33 mg/dl) than in controls (22 mg/dl). Plasma LDL cholesterol levels were raised in cases of the four genetic groups to a similar extent, in contrast to the mean plasma Lp[a] that varied. The Lp[a] level was higher by 30-33% in cases from the Druze, Christian-Arabs, and Jewish-Ashkenazi groups but by 110% in the Jewish-Sephardic group. Apo[a] isoform distribution was similar in cases and controls within each genetic group. Lp[a] levels were highest in subjects with Lp(S1) isoform, in particular in cases from the Jewish-Sephardic group.
These data indicate that the higher Lp[a] levels in FH heterozygotes cannot be attributed solely to lack of functional LDL receptor molecules but possibly reflect multiple gene interactions.

• 出版日期1991-9