Key result
The R3500W mutation was identified in 9 of 373 hyperlipidemic Chinese patients compared to 0 of 309 controls (P=0.004), with haplotype analysis indicating a common Asian origin.
Why the study?
Is the apolipoprotein B-100 R3500W mutation associated with hyperlipidemia in a Chinese population?
Case-Control (n=682)
Is the apolipoprotein B-100 R3500W mutation associated with hyperlipidemia in a Chinese population?
The R3500W mutation in the apolipoprotein B-100 gene is significantly associated with hyperlipidemia in Chinese patients and likely shares a common Asian origin.
May warrant inclusion in genetic panels for Chinese hyperlipidemia; extends European data to Asian ancestry but remains hypothesis-generating.
DNA screening for apolipoprotein (apo) B-100 mutations was performed in hyperlipidemic Chinese. The apo B-100 gene segment surrounding previously identified familial defective apo B-100 (FDB) mutations was amplified by PCR and subjected to single-strand conformation polymorphism (SSCP) analysis. One subject's aberrant SSCP band was cloned and sequenced to study the molecular lesions. A recurrent ArgCGG-to-TrpTGG mutation (R3500W) in the codon 3500 of the apo B-100 gene was identified. The C-to-T transition creates a NlaIII site and permits rapid restriction analysis of the mutation. A total of 373 hyperlipidemic patients and 309 controls were screened for R3500W. Nine unrelated subjects were shown to be heterozygous for the mutation, and no R3500W carriers were found in the control group (P = 0.004). Six polymorphic markers, including five restriction fragment length polymorphisms and one hypervariable repeat region, were used for haplotype analysis on the mutant allele. In two families, the R3500W mutation could be unambiguously assigned to a unique haplotype XbaI-/MaeI+/MspI+/EcoRI+/ Eco57I+/34 3'HVR repeats; in the other seven unrelated heterozygotes, this finding was consistent when an unequivocal haplotype was deduced. The results suggest that all R3500W alleles are identical by descent in our population. The fact that the same mutant allele was identified in other Asians with FDB indicates a common Asian origin for the R3500W mutations.
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Tai et al. (1998) conducted a case-control in Hyperlipidemia (n=682). R3500W mutation vs. Controls was evaluated on Presence of R3500W mutation (p=0.004). The R3500W mutation was identified in 9 of 373 hyperlipidemic Chinese patients compared to 0 of 309 controls (P=0.004), with haplotype analysis indicating a common Asian origin.
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