Dec. 23, 2008 A team of researchers, led by Helen Hobbs and Jonathan Cohen, at the University of Texas Southwestern Medical Center, Dallas, has provided new insight into how genetic variation can cause different individuals to have distinct levels of a fat known as triglyceride in their blood.
Results of their study appear online Dec. 15 in the Journal of Clinical Investigation.
The team focused on a family of genes known as ANGPTL genes and analyzed three family members (ANGPTL3, ANGPTL5, and ANGPT6L) in over 3,000 individuals. Several rare variations in the ANGPTL3 and ANGPTL5 genes were identified in individuals with low triglyceride levels in their blood and no other detectable defects in handling fats.
Previous studies have indicated a similar finding for ANGPTL4. Further analysis revealed that the ANGPTL3, ANGPTL4, and ANGPTL5 variants associated with low triglyceride levels in the blood generated proteins that had lost their normal function.
The team therefore conclude that variation in the ANGPTL3, ANGPTL4, and ANGPT6L genes contributes to the diversity of triglyceride levels in the blood of different individuals.
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- Romeo et al. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
. Journal of Clinical Investigation, 2008; DOI: 10.1172/JCI37118
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