Relationship of human pancreatic cholesterol esterase gene structure with lipid phenotypes

Pancreatic cholesterol esterase is one of the enzymes that plays a pivotal role in cholesterol absorption. Differences in the genotype of this enzyme could affect the susceptibility of individuals to dyslipidemia and/or cardi ovascular disease. We undertook this study to investigate if any correlatio n exists between restriction fragment length polymorphism in the human panc reatic cholesterol esterase gene and serum lipid levels. DNA from 96 health y adults was restricted with Stu I, Southern blotted, and probed with cDNA of human pancreatic cholesterol esterase. Results revealed six distinct pat terns which were classified as A, B, C, D, E, and F which had a population frequency of 1%, 34.5%, 49%, 12.5%, 1% and 2% respectively. Correlation of the distribution of lipid and lipoprotein levels by pattern and sex reveale d a significant interaction between pattern type and HDL (p=0.03) in the mo st common group (group C) for males. Male patients of pattern C tended to h ave a lower LDL cholesterol than non-pattern C males (p=0.07); in addition, 80% of all males in the study population with LDL cholesterol under 100 mg /dl were found in pattern C. Thus, the most common Stu I RFLP genotype is a ssociated with a favorable lipid phenotype. This report shows an associatio n between the human pancreatic cholesterol esterase genotype and serum lipi d levels. Further analysis of a larger study group with Stu I and alternati ve polymorphic restriction enzymes is warranted, to confirm this biological ly plausible result.