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Low‐density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia
Author(s) -
Khoo Kl,
Van Acker P,
Defesche Jc,
Tan H,
Van De Kerkhof L,
Heijnenvan Eijk Sj,
Kastelein Jjp,
Deslypere Jp
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.580202.x
Subject(s) - apolipoprotein b , familial hypercholesterolemia , ldl receptor , medicine , genetics , lipoprotein , population , mutation , endocrinology , biology , gene , cholesterol , environmental health
The aim of this study was to detect mutations in the genes coding for the low‐density lipoprotein receptor and apolipoprotein B in patients of Southeast Asian origin with clinically diagnosed familial hypercholesterolemia (FH) and to relate these findings with the observed lower incidence of coronary heart disease in this part of the world.
A total of 86 unrelated patients with FH were selected on clinical grounds, and complete DNA analysis of the low‐density lipoprotein (LDL)‐receptor and apolipoprotein B ( apoB ) genes by DGGE and DNA‐sequencing was performed. In the majority (73%) of the cohort studied, no mutations could be detected, even after extensive analysis of the LDL‐receptor and apoB genes. However, the 22 patients with a mutation had significantly more xanthomas and a higher incidence of coronary heart disease and levels of low‐density lipoproteins were also significantly different. There was no correlation between the type of the mutation and lipoprotein levels or clinical signs of atherosclerosis.
The fact that the majority of the FH patients studied had no detectable mutation and that this group had a significant milder phenotype, suggests the presence of a third gene in the Southeast Asian population, predominantly leading to a disorder resembling a milder form of FH. A similar, but less frequent, trait has recently been described in a number of European families