Abstract:
:Serum triglyceride (TG) levels are increased in extremely obese individuals, indicating abnormalities in lipid metabolism and insulin resistance. We carried out a genome scan for serum TG in 320 nuclear families segregating extreme obesity and normal weight. Three hundred eighty-two Marshfield microsatellite markers (Screening Set 11) were genotyped. Quantitative linkage analyses were performed using family regression and variance components methods. We found linkage on the 7q36 region [D7S3058, 174 centimorgan (cM), Logarithm of Odds (LOD) = 2.98] for log-transformed TG. We also found suggestive linkages on chromosomes 20 (D20S164, 101 cM, LOD = 2.34), 13 (111 cM, LOD = 2.00), and 9 (104 cM, LOD = 1.90) as well as some weaker trends for chromosomes 1, 3, 5, 10, 12, and 22. In 58 African American families, LOD scores of 3.66 and 2.62 were observed on two loci on chromosome 16: D16S3369 (64 cM) and MFD466 (100 cM). To verify the 7q36 linkage, we added 60 nuclear families, and the LOD score increased to 3.52 (empirical P < 0.002) on marker D7S3058.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Li WD,Dong C,Li D,Garrigan C,Price RAdoi
10.1194/jlr.M400391-JLR200keywords:
subject
Has Abstractpub_date
2005-03-01 00:00:00pages
432-8issue
3eissn
0022-2275issn
1539-7262pii
M400391-JLR200journal_volume
46pub_type
杂志文章abstract::Mouse plasma from strains C57BL/6J and C3H/HeJ includes a high density lipoprotein (HDL) fraction containing apolipoprotein A-I which migrates in the prebeta region upon agarose gel electrophoresis, similar to the prebeta HDL previously reported in humans. This prebeta A-I lipoprotein species has a buoyant density of ...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1990-02-01 00:00:00
abstract::We report the molecular basis of familial chylomicronemia and recurrent pancreatitis in five members of a large Dutch family. All patients had normal plasma hepatic lipase and apoC-II levels, but absent lipoprotein lipase (LPL) catalytic activity and low LPL mass in postheparin plasma. The mutation in the LPL gene was...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1993-12-01 00:00:00
abstract::The activity of rat liver microsomal squalene epoxidase is inhibited effectively by digitonin. Concentrations of 0.8 to 1.2 mg/ml of digitonin cause total inhibition of microsomal (0.75 mg protein/ml) squalene epoxidase either in microsomes that were pretreated with digitonin and subsequently washed and subjected to e...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1989-08-01 00:00:00
abstract::Paraoxonase-1 (PON1) is known to be associated with high density lipoproteins. We optimized buffer conditions to obtain quantitative recovery of PON1 (arylesterase) activity and analyzed the distribution of PON1 in mice using a combination of size-exclusion chromatography and ultracentrifugation. Size-exclusion chroma...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M300464-JLR200
更新日期:2004-03-01 00:00:00
abstract::The bioactive molecule sphingosine 1-phosphate (S1P) is abundantly stored in platelets and can be released extracellularly. However, although they have high sphingosine (Sph) kinase activity, platelets lack the de novo sphingolipid biosynthesis necessary to provide the substrates. Here, we reveal a generation pathway ...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M500268-JLR200
更新日期:2005-11-01 00:00:00
abstract::Origins of hyperlipidemia and cholestasis that occur during pregnancy were investigated by examining expression of key elements related to plasma and hepatic cholesterol metabolism during pregnancy, lactation, and post-lactation in the rat model. Among major findings were: during pregnancy, the activities of hepatic 3...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract::Cholesterol 7alpha-hydroxylase, a rate-limiting enzyme for bile acid synthesis, has been implicated in genetic susceptibility to atherosclerosis. The gene, CYP7A1, encoding a protein with this activity, is expressed normally only in hepatocytes and is highly regulated. Our cyp7A1 gene knockout mouse colony, as young a...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M200489-JLR200
更新日期:2003-05-01 00:00:00
abstract::The chemical and biochemical properties of cholesterol-enriched and cholesterol-poor chylomicrons from rat lymph have been compared. The enriched particles, prepared from cholesterol-containing lipid dispersions, passed into the duodenum, had four to ten times the cholesteryl ester content of the control chylomicrons ...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1978-08-01 00:00:00
abstract::The 3-thia fatty acids, tetradecylthioacetic acid and 3,10-dithiadicarboxylic acid are mitochondrion and peroxisome proliferators. Administration of these promotes an increased transport of endogenous fatty acids to these organelles and a higher capacity of beta-oxidation. Administration of 3-thia fatty acids to rats ...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1998-03-01 00:00:00
abstract::The interaction of hepatic lipase (HL) with heparan sulfate is critical to the function of this enzyme. The primary amino acid sequence of HL was compared to that of lipoprotein lipase (LPL), a related enzyme that possesses several putative heparin-binding domains. Of the three putative heparin-binding clusters of LPL...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00
abstract::Endothelial lipase (EL) has been shown to be a critical determinant for high density lipoprotein cholesterol levels in vivo; therefore, assays that measure EL activity have become important for the discovery of small molecule inhibitors that specifically target EL. Here, we describe fluorescent Bodipy-labeled substrat...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.D600041-JLR200
更新日期:2007-02-01 00:00:00
abstract::A method has been described for the measurement of apoB concentration and specific activity in very low density lipoprotein (VLDL) and low density lipoprotein (LDL) during metabolic studies. For measurement of specific activity, apoB was separated from other apolipoproteins and lipids by precipitation in, and subseque...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1983-09-01 00:00:00
abstract::Decreased HDL-cholesterol (HDL-C) and familial combined hyperlipidemia (FCHL) are the two most common familial dyslipidemias predisposing to premature coronary heart disease (CHD). These dyslipidemias share many phenotypic features, suggesting a partially overlapping molecular pathogenesis. This was supported by our p...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M400141-JLR200
更新日期:2004-10-01 00:00:00
abstract::Lipid-containing deposits within the swim bladders of Coryphaenoides acrolepis and Antimora rostrata were investigated. Lipid analysis of this material, which was quite uniform from the two species, yielded the following data: neutral lipids, 36.0-41.7%; phospholipids, 53.6-56.7%; and glycolipids, 4.3-8.9%. Cholestero...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1971-05-01 00:00:00
abstract::apoM is a member of the lipocalin superfamily and circulates in plasma attached to HDL particles. apoM plays a role in cholesterol metabolism and has recently been identified as transporter for the signaling lipid, sphingosine-1-phosphate (S1P), in plasma. S1P is implicated in several inflammatory diseases such as mul...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.D055947
更新日期:2015-03-01 00:00:00
abstract::Lipoprotein lipase (LPL) and hepatic lipase (HL) mediate the hydrolysis of triglycerides and phospholipids present in circulating lipoprotein particles and are essential for normal lipid metabolism. Both enzymes have a similar primary amino acid structure and share requirements for intact catalytic, lipid binding, and...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1993-08-01 00:00:00
abstract::During intestinal absorption amino acids must traverse the lipid-rich epithelial cell membrane, possibly in a lipid-soluble form. In a search for such a form, we have determined the ability of lipid extracted from intestinal mucosa to bind valine. After incubation in a valine-containing medium this lipid (defined as t...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1968-09-01 00:00:00
abstract::The surface behavior of a series of cholesteryl esters was studied in mixtures with a model phospholipid, 1-palmitoyl-2-oleoyl phosphatidylcholine. The cholesteryl esters were representative of the predominant forms occurring naturally and qualitative similarities in their phase behavior permits generalization of thei...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1987-09-01 00:00:00
abstract::We report the characterization of eight mutations of sterol 27-hydroxylase gene (CYP27) in five Italian patients with cerebrotendinous xanthomatosis, who were found to be compound heterozygotes. Four mutations (C --> T at nt 45 of exon 4, G(+1) --> A in intron 6, G(+5) --> T in intron 7, and G(-1) --> A in intron 7) a...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
abstract::Ethanolamine phosphotransferase (EPT)1, also known as selenoprotein 1 (SELENOI), is an enzyme that transfers phosphoethanolamine from cytidine diphosphate-ethanolamine to lipid acceptors to produce ethanolamine glycerophospholipids, such as diacyl-linked phosphatidylethanolamine (PE) and ether-linked plasmalogen [1-al...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.P081620
更新日期:2018-06-01 00:00:00
abstract::A deficiency of lysosomal phospholipase A2 (LPLA2) causes macrophage-associated phospholipidosis, suggesting that the enzyme is important in the lipid catabolism. Because LPLA2 is secreted by macrophages, extracellular LPLA2 activity may potentially reflect a change in macrophage activation. In this report, the detect...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.D007146
更新日期:2010-08-01 00:00:00
abstract::Cholelithiasis is a multifactorial process, and several mechanisms have been postulated. A decreased expression of the ileal apical sodium-dependent bile acid transporter (ASBT) and of the cytosolic ileal lipid binding protein (ILBP) was recently described in female non-obese patients. The role of the recently identif...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M800162-JLR200
更新日期:2008-09-01 00:00:00
abstract::Vitamin E (α-tocopherol) is the major lipid-soluble antioxidant in many species. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by mutations in the NPC1 or NPC2 gene, which regulates lipid transport through the endocytic pathway. NPC disease is characterized by massive intracellular accumulat...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M015560
更新日期:2011-07-01 00:00:00
abstract::A sensitive and reproducible method has been developed for separation of the major serum lipoproteins from 1 ml or less of human serum by isopycnic density gradient ultracentrifugation. The serum, applied to a step gradient (total volume 12.8 ml), was spun for 48 hr at 38,000 rpm at 10 degrees C and, in each of the fr...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1977-11-01 00:00:00
abstract::The de novo ceramide synthesis pathway is essential to human biology and health, but genetic influences remain unexplored. The core function of this pathway is the generation of biologically active ceramide from its precursor, dihydroceramide. Dihydroceramides have diverse, often protective, biological roles; converse...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.P094433
更新日期:2019-09-01 00:00:00
abstract::High plasma cholesterol levels are found in several metabolic disorders and their reductions are advocated to reduce the risk of atherosclerosis. A way to lower plasma lipids is to curtail lipoprotein production; however, this is associated with steatosis. We previously showed that microRNA (miR)-30c lowers diet-induc...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M081299
更新日期:2018-01-01 00:00:00
abstract::After stereospecific oxidation, trimethylsilylated methyl esters of mono- and diunsaturated fatty acids were analyzed by combined gas-liquid chromatography-chemical ionization mass spectrometry. The positions of original double bonds were deduced from the fragment ions produced by the cleavage of the carbon-carbon bon...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1978-02-01 00:00:00
abstract::The zinc finger protein ZNF202 is a transcriptional repressor that binds to promoter elements predominantly found in genes involved in lipid metabolism. Here we demonstrate that ZNF202 mRNA expression is inversely correlated with ATP binding cassette A1 (ABCA1), ABCG1, and apolipoprotein E (apoE) in human monocytes. U...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:10.1194/jlr.M300016-JLR200
更新日期:2003-05-01 00:00:00
abstract::Various properties of retinyl ester hydrolysis in the liver and the retinal pigment epithelium (RPE) have been studied, yet the relationship between the retinyl ester hydrolase (REH) activities in these tissues of the same species is not known. In the present study, REH activities in bovine liver and RPE microsomes we...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::The apoproteins of serum lipoproteins and of lipoproteins present in a nonrecirculating perfusate of rat liver were compared by immunochemical, gel electrophoretic, and solubility techniques. Serum and perfusate very low density lipoprotein apoprotein composition were not different. No evidence for the presence of a l...
journal_title:Journal of lipid research
pub_type: 杂志文章
doi:
更新日期:1976-01-01 00:00:00