出版社：American Society for Biochemistry and Molecular Biology
摘要：It is unclear whether cholesteryl ester transfer protein (CETP)contributes to high density lipoprotein cholesterol (HDL-C)levels in hyperalphalipoproteinemia (HALP) in Caucasians. Moreover,even less is known about the effects of hereditary CETP deficiencyin non-Japanese. We studied 95 unrelated Caucasian individualswith HALP. No correlations between CETP concentration or activityand HDL-C were identified. Screening for CETP gene defects ledto the identification of heterozygosity for a novel splice sitemutation in one individual. Twenty-five heterozygotes for thismutation showed reduced CETP concentration (–40%) andactivity (–50%) and a 35% increase of HDL-C compared withfamily controls. The heterozygotes presented with an isolatedhigh HDL-C, whereas the remaining subjects exhibited a typicalhigh HDL-C/low-triglyceride phenotype. The increase of HDL-Cin the CETP-deficient heterozygotes was primarily attributableto increased high density lipoprotein containing apolipoproteinA-I and A-II (LpAI:AII) levels, contrasting with an increasein both high density lipoprotein containing apolipoprotein A-Ionly and LpAI:AII in the other group. This study suggests theabsence of a relationship between CETP and HDL-C levels in Caucasianswith HALP. The data furthermore indicate that genetic CETP deficiencyis rare among Caucasians and that this disorder presents witha phenotype that is different from that of subjects with HALPwho have no mutation in the CETP gene.Supplementary key words deficiency • mutation • CETP-IVS7+1
Abbreviations: apoC-III, apolipoprotein C-III; BMI, body mass index; CE, cholesteryl ester; CETP, cholesteryl ester transfer protein; HALP, hyperalphalipoproteinemia; HDL-C, high density lipoprotein cholesterol; LDL-C, low density lipoprotein cholesterol; LpAI, high density lipoprotein containing apolipoprotein A-I only; LpAI:AII, high density lipoprotein containing apolipoprotein A-I and A-II
