Key result
The C->G1595 transversion in exon 9 of the lipoprotein lipase gene was present in 9% of hypertriglyceridemic subjects compared to 33% of population controls (p=0.037).
Case-Control (n=121)
No
Absolute Event Rate: 9% vs 33%
p-value: p=0.037
Demonstrates a method using electrophoretic strand separation to directly sequence individual alleles, successfully identifying a nonsense mutation in the human lipoprotein lipase gene.
Lower variant frequency in cases should not change practice; leaves open any protective role pending replication studies.
Large-scale screening by direct sequencing of DNA to detect molecular variants remains a laborious endeavor whose difficulty is compounded by heterozygosity. We show that mobility shifts of single-stranded DNA electrophoresed under nondenaturing conditions can be used not only to detect variants (Orita,M. et al., 1989, Genomics, 5, 874-879), but also to separate and sequence directly individual alleles. In this manner, we have identified a common variant of human lipoprotein lipase resulting from a nonsense mutation in exon 9 of the gene. Whether this variant is of functional significance remains to be determined.
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Hata et al. (1990) conducted a case-control in Hypertriglyceridemia (n=121). Hypertriglyceridemia vs. Random population controls was evaluated on Presence of the C->G1595 transversion in exon 9 of the LPL gene (p=0.037). The C->G1595 transversion in exon 9 of the lipoprotein lipase gene was present in 9% of hypertriglyceridemic subjects compared to 33% of population controls (p=0.037).
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