Chromosome - 8 SNP - rs326 Gene Name - LPL (LIPC)

Basic Information

Genotype Frequency
  • AA
  • AG
  • GG
Allele Frequency
  • A
  • G

SNP Expression Description

General SNP Description

This SNP is associated with high-density lipoprotein (HDL) cholesterol plasma levels as well as BMI (Body Mass Index) in the Caucasian and African-American populations. In African Americas, this SNP is significantly associated with triglycerides and HDL-C.  HDL is one of the five major groups of lipoproteins in the human body. It removes fats and cholesterol particles out of the cells back to the liver for excretion or re-utilization. In general individuals with higher HDL to LDL levels tend to have fewer cardiovascular problems. In addition to that, the minor alleles of this SNP that predispose an individual to lower triglycerides and higher HDL-C levels at young adulthood further slow down the trajectory increase in triglycerides and decrease in HDL-C during 20 years of follow-up. Research also indicates that the G allele of this SNP is associated with elevated levels of HDL-C and Apo A-I after the HC/LF (High Carbohydrate/Low Fat) diet in males of the healthy Chinese Han Youth. This gene encodes for lipoprotein lipase (LPL), which is one of the enzymes that helps to break down triglycerides (blood lipids) into free fatty acids and glyceride. This gene is primarily distributed in heart, skeletal muscle, adipose tissue, and lactating mammary glands. Severe mutations in this gene result in type I Hyperlipoproteinemia, while less extreme mutations are linked to many disorders of Lipoprotein metabolism. Other disease associated with this gene include the following: Endogenous Hypertriglyceridemia, Hypertriglyceridemia, Hypertriglyceridemias Familial, Hyperlipidemia Familial Combined, Dyslipidemia, Hyperlipidemia and Atherosclerosis.

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