Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels

BACKGROUND Screening of variants, related to lipid metabolism in patients with extreme cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The aim of this study was to examine the prevalence and characteristics of rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol (LDL-C) levels. METHODS Am...

متن کامل

Low density lipoprotein particle size is associated with glycosylated hemoglobin levels regardless of plasma lipid levels.

We evaluated the influence of the levels of glycosylated hemoglobin (HbA1C) and fasting plasma glucose on the variation in low density lipoprotein (LDL) peak particle size in 210 subjects who were undergoing an annual check-up. Univariate analysis showed that LDL particle size was significantly and positively correlated with high density lipoprotein (HDL) cholesterol levels, and was inversely c...

متن کامل

Rare Genetic Variants and High-Density Lipoprotein

Although static plasma concentration of high-density lipoprotein cholesterol (HDL-C), usually measured in the fasting state, is an excellent marker of atherosclerosis risk, its direct causal role in atherogenesis has lately been called into question. Strong evidence refuting a causal protective role for HDL has come from studies of rare genetic variants that affect plasma HDL-C concentrations. ...

متن کامل

Regulation of plasma low density lipoprotein levels in postmenopausal women.

To study the regulation of plasma low density lipoprotein (LDL) cholesterol in postmenopausal women (n = 79), fasting plasma lipids and lipoproteins, the fractional catabolic rate (FCR) and production rate for LDL apolipoprotein B (apo B), cholesterol absorption, apolipoprotein E phenotype and polymorphisms of the apo B and 7alpha-hydroxylase genes were determined. The level of LDL cholesterol ...

متن کامل

Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy.

We have used four restriction fragment length polymorphisms (RFLPs) of the human low density lipoprotein receptor (LDL-R) gene, detected by the restriction enzymes Ava II, Pvu II, and ApaLI (5' and 3'), to study the effect of variation at this gene locus in determining plasma cholesterol and LDL cholesterol levels. Two hundred eighty-nine normolipidemic individuals were studied from the Liguria...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2006

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.0508483103