Lipoprotein Lipase PvuII Polymorphism is Associated with Endurance Running Performance

Abstract

Lipoprotein Lipase (LPL) is a capillary bound enzyme that breaks down triglycerides in chylomicrons providing free fatty acids for cells as substrates. In skeletal muscle, LPL mRNA is increased significantly in response to even a single bout of endurance exercise. Studies with rats showed significant linkage between regions of chromosome 16, orthologous to chromosome 8 in humans, and endurance running capacity. Chromosome 8 harbors various genes related to fat metabolism including LPL at 8q22. PURPOSE: To examine the hypothesis of association between a polymorphism on the LPL gene (PvuII C to T) and endurance running performance. METHODS: DNA was extracted from white blood cells of 80 volunteers, participants of the 2005 Olympus Mountain Marathon; a 44Km footrace over the 2900m high Mt. Olympus from Dion to Litochoro in Greece. All subjects are Caucasian and 90% are Greek. A 430bp fragment of the LPL gene was amplified by PCR and then digested with 10U of PvuII restriction enzyme; which recognizes and digests the C allele. Subjects were placed in one of two groups of 40 according to their finishing times (top 40 (T40) vs. lower 40 (L40)). Genotypic frequencies were compared and analysed by χ2. RSSULTS: For the whole group of 80 runners allele (C= 52% T= 48%) and genotype (CC= 29%, CT= 46%, and TT= 25%) frequencies were not significantly different from the expected frequency for the general Greek population based on previous results from the literature. However, when compared by subgroups, genotype frequency for T40 (35%CC, 50%CT and 15%TT) was significantly different from L40 (23%CC, 42%CT and 35%TT) (χ2 = 12.9, df = 2, P = 0.02). The difference was even stronger when comparing the top 20 (30%CC, 65%CT and 5%TT) vs lower 20 (15%CC, 50%CT and 35%TT) (χ2 = 38.2, df = 2, P <0.001). In both cases, the TT genotype is less frequent among top performers. Mean finishing time for the C allele carriers (CC ± CT) was significantly lower (P = 0.025) than for the TT subjects (C carriers = 521.9 ± 100.5 min vs. TT = 582.2 ± 95.1 min). CONCLUSION: The results support the hypothesis that LPL gene sequence variation is associated with endurance running performance among Greeks.