Association and linkage of LDLR gene variation with variation in plasma low density lipoprotein cholesterol
نویسندگان
چکیده
منابع مشابه
Identification of Sequence Variation in the Apolipoprotein A2 Gene and Their Relationship with Serum High-Density Lipoprotein Cholesterol Levels
Background: Apolipoprotein A2 (APOA2) is the second major apolipoprotein of the high-density lipoprotein cholesterol (HDL-C). The study aim was to identify APOA2 gene variation in individuals within two extreme tails of HDL-C levels and its relationship with HDL-C level. Methods: This cross-sectional survey was conducted on participants from Tehran Glucose and Lipid Study (TLGS) at Research Ins...
متن کاملFamilial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
متن کاملVariation 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 کاملLow-Density Lipoprotein Receptor (LDLR) Family Orchestrates Cholesterol Homeostasis
The LDLR family of proteins is involved in lipoproteins trafficking. While the role of LDLR in cardiovascular disease has been widely studied, only recently the role of other members of the LDLR proteins in lipoprotein homeostasis and atherosclerosis has emerged. LDLR, VLDLR, and LRPs bind and internalize apoE- and apoB-containing lipoprotein, including LDL and VLDL, and regulate their cellular...
متن کاملidentification of sequence variation in the apolipoprotein a2 gene and their relationship with serum high-density lipoprotein cholesterol levels
background: apolipoprotein a2 (apoa2) is the second major apolipoprotein of the high-density lipoprotein cholesterol (hdl-c). the study aim was to identify apoa2 gene variation in individuals within two extreme tails of hdl-c levels and its relationship with hdl-c level. methods: this cross-sectional survey was conducted on participants from tehran glucose and lipid study (tlgs) at research ins...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 1998
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380050060