title: Genetic causes of familial hypercholesterolaemia in a Malaysian population.
abstract: A total of 86 unrelated Malaysian patients with familial hypercholesterolaemia (FH) were studied for mutations in their low-density lipoprotein receptor (LDL-R) gene. Amongst them, 23 had a LDL-R gene mutation, while none having an Apolipoprotein B-3500 (Apo B-3500) mutation. Patients with the LDL-R gene defect appeared to have a higher level of low-density lipoprotein cholesterol (LDL-C), an increased incidence of xanthomas and coronary heart disease (CHD), but no relationships were found between the type of LDL-R gene mutations and their lipid levels or clinical signs of CHD. In contrast to Western data, our findings seemed to indicate a predominance of mutations in the ligand binding domain and an absence of Apo B-3500 gene mutation. The latter finding may offer a genetic basis as to why Asian patients with familial hypercholesterolaemia have lower LDL-C levels and less premature CHD than their Western counterparts.
authors.affiliation: Klinik Dr Khoo Kah Lin, 25, Jalan Medan Tuanku, 50300 Kuala Lumpur.
authors.forename: K L
authors.initials: KL
authors.lastname: Khoo
authors.forename: P
authors.initials: P
authors.lastname: Van Acker
authors.forename: H
authors.initials: H
authors.lastname: Tan
authors.forename: J P
authors.initials: JP
authors.lastname: Deslypere
mesh_terms: D000328:Adult; D000368:Aged; D001055:Apolipoproteins B / Q000235:genetics; D008078:Cholesterol, LDL / Q000097:blood; D003327:Coronary Disease / Q000453:epidemiology / Q000209:etiology; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D015994:Incidence; D008296:Malaysia; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics; D014973:Xanthomatosis / Q000453:epidemiology / Q000209:etiology
chemical_list: D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D011973:Receptors, LDL