The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol.

Abstract:

:Genome-wide association (GWA) studies represent a powerful strategy for identifying susceptibility genes for complex diseases in human populations but results must be confirmed and replicated. Because of the close homology between mouse and human genomes, the mouse can be used to add evidence to genes suggested by human studies. We used the mouse quantitative trait loci (QTL) map to interpret results from a GWA study for genes associated with plasma HDL cholesterol levels. We first positioned single nucleotide polymorphisms (SNPs) from a human GWA study on the genomic map for mouse HDL QTL. We then used mouse bioinformatics, sequencing, and expression studies to add evidence for one well-known HDL gene (Abca1) and three newly identified genes (Galnt2, Wwox, and Cdh13), thus supporting the results of the human study. For GWA peaks that occur in human haplotype blocks with multiple genes, we examined the homologous regions in the mouse to prioritize the genes using expression, sequencing, and bioinformatics from the mouse model, showing that some genes were unlikely candidates and adding evidence for candidate genes Mvk and Mmab in one haplotype block and Fads1 and Fads2 in the second haplotype block. Our study highlights the value of mouse genetics for evaluating genes found in human GWA studies.

journal_name

J Lipid Res

authors

Leduc MS,Lyons M,Darvishi K,Walsh K,Sheehan S,Amend S,Cox A,Orho-Melander M,Kathiresan S,Paigen B,Korstanje R

doi

10.1194/jlr.M009175

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

1139-49

issue

6

eissn

0022-2275

issn

1539-7262

pii

jlr.M009175

journal_volume

52

pub_type

杂志文章
  • Loss of lipid to plastic tubing.

    abstract::14C-labeled oleic acid and (3)H-labeled monoether in a bile salt solution were perfused through three types of plastic tubing. Large proportions of lipid were lost to the walls of silicone rubber and polyvinyl chloride tubes. The major portion of the lipid lost was recoverable only when chloroform-methanol was perfuse...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Lee KY

    更新日期:1971-09-01 00:00:00

  • Calcium binding to phospholipid: structural study of calcium glycerophosphate.

    abstract::To consider possible interaction of the phospholipid membrane with calcium ions, crystal structures of calcium dl-alpha- and beta-glycerophosphates (alpha- and beta-CaGs, respectively) were investigated by X-ray diffraction methods. After many attempts, relatively large single crystals of beta-CaG were prepared from t...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Inoue M,In Y,Ishida T

    更新日期:1992-07-01 00:00:00

  • Modulation by flavonoids of PAF and related phospholipids in endothelial cells during oxidative stress.

    abstract::PAF-dependent transacetylase (TA) modifies the functions of platelet-activating factor (PAF), a potent inflammatory lipid, either by transferring the acetyl group from PAF to lysophospholipids (TAL activity), or to sphingosine (TAS activity) or by hydrolyzing PAF (acetylhydrolase activity). In stimulated endothelial c...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M200292-JLR200

    authors: Balestrieri ML,Castaldo D,Balestrieri C,Quagliuolo L,Giovane A,Servillo L

    更新日期:2003-02-01 00:00:00

  • Composition of lipid foams from swim bladders of two deep ocean fish species.

    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:

    authors: Patton S,Thomas AJ

    更新日期:1971-05-01 00:00:00

  • Oxidized LDL bind to nonproteoglycan components of smooth muscle extracellular matrices.

    abstract::Arterial wall lipid retention is believed to be due primarily to ionic interactions between lipoproteins and proteoglycans. Thus, oxidized low density lipoproteins (LDL), with decreased positive charge relative to native LDL, should have decreased interaction with negatively charged proteoglycans. However, oxidized LD...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Chang MY,Potter-Perigo S,Wight TN,Chait A

    更新日期:2001-05-01 00:00:00

  • Rapid determination of apolipoprotein E genotype using a heteroduplex generator.

    abstract::The apoE gene exhibits two common polymorphisms that have been associated with both coronary artery disease and Alzheimer's disease. The polymorphisms create the three allelic isoforms E2, E3, and E4 which are encoded by Cys;-Cys, Cys;-Arg, and Arg;-Arg at amino acid positions 112 and 158, respectively. Numerous metho...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Bolla MK,Wood N,Humphries SE

    更新日期:1999-12-01 00:00:00

  • Quantitative isolation of total glycosphingolipids from animal cells.

    abstract::The quantitative isolation of total glycosphingolipids from crude lipid extracts without contamination from other lipid classes is described. The method consists of (a) acetylation of total lipids with pyridine and acetic anhydride, (b) separation of acetylated glycolipids from nonglycolipids on a magnesia-silica gel ...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Saito T,Hakomori SI

    更新日期:1971-03-01 00:00:00

  • Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.

    abstract::ABCA12 mutations disrupt the skin barrier and cause harlequin ichthyosis. We previously showed Abca12(-/-) skin has increased glucosylceramide (GlcCer) and correspondingly lower amounts of ceramide (Cer). To examine why loss of ABCA12 leads to accumulation of GlcCer, de novo sphingolipid synthesis was assayed using [(...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M044941

    authors: Haller JF,Cavallaro P,Hernandez NJ,Dolat L,Soscia SJ,Welti R,Grabowski GA,Fitzgerald ML,Freeman MW

    更新日期:2014-03-01 00:00:00

  • Monoclonal antibody detection of plasma membrane cholesterol microdomains responsive to cholesterol trafficking.

    abstract::The hypothesis of lipid domains in cellular plasma membranes is well established. However, direct visualization of the domains has been difficult. Here we report direct visualization of plasma membrane cholesterol microdomains modulated by agents that affect cholesterol trafficking to and from the plasma membrane. The...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Kruth HS,Ifrim I,Chang J,Addadi L,Perl-Treves D,Zhang WY

    更新日期:2001-09-01 00:00:00

  • Effect of bile acid deconjugation on the fecal excretion of steroids.

    abstract::The effect of microbiological deconjugation of bile acids on total bile acid and neutral sterol fecal excretion by adult male rats has been studied. A screening method utilizing mice allowed selection of a Clostridium perfringens type A strain, which accelerated cholesterol catabolism in mice. When this species of bac...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Kellogg TF,Knight PL,Wostmann BS

    更新日期:1970-07-01 00:00:00

  • ABCA1 and amphipathic apolipoproteins form high-affinity molecular complexes required for cholesterol efflux.

    abstract::Apolipoproteins, such as apolipoprotein A-I (apoA-I), can stimulate cholesterol efflux from cells expressing the ATP binding cassette transporter A1 (ABCA1). The nature of the molecular interaction between these cholesterol acceptors and ABCA1 is controversial, and models suggesting a direct protein-protein interactio...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M300355-JLR200

    authors: Fitzgerald ML,Morris AL,Chroni A,Mendez AJ,Zannis VI,Freeman MW

    更新日期:2004-02-01 00:00:00

  • Inflammatory remodeling of the HDL proteome impairs cholesterol efflux capacity.

    abstract::Recent studies demonstrate that HDL's ability to promote cholesterol efflux from macrophages associates strongly with cardioprotection in humans independently of HDL-cholesterol (HDL-C) and apoA-I, HDL's major protein. However, the mechanisms that impair cholesterol efflux capacity during vascular disease are unclear....

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M059089

    authors: Vaisar T,Tang C,Babenko I,Hutchins P,Wimberger J,Suffredini AF,Heinecke JW

    更新日期:2015-08-01 00:00:00

  • Atherosclerosis is enhanced by testosterone deficiency and attenuated by CETP expression in transgenic mice.

    abstract::In this work, we investigated the impact of testosterone deficiency and cholesteryl ester transfer protein (CETP) expression on lipoprotein metabolism and diet-induced atherosclerosis. CETP transgenic mice and nontransgenic (nTg) littermates were studied 4 weeks after bilateral orchidectomy or sham operation. Castrate...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M600135-JLR200

    authors: Casquero AC,Berti JA,Salerno AG,Bighetti EJ,Cazita PM,Ketelhuth DF,Gidlund M,Oliveira HC

    更新日期:2006-07-01 00:00:00

  • Bile salt-induced cholesterol crystal formation from model bile vesicles: a time course study.

    abstract::Precipitation of cholesterol crystals from vesicles is an important step in the pathogenesis of cholesterol gallstones. Little is known, however, about the kinetics and the mechanisms involved in cholesterol crystallization. Therefore, the time course of cholesterol crystal precipitation and lipid exchange between ves...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: van de Heijning BJ,Stolk MF,van Erpecum KJ,Renooij W,Groen AK,vanBerge-Henegouwen GP

    更新日期:1994-06-01 00:00:00

  • Low density lipoprotein heterogeneity in the cebus monkey.

    abstract::In studies of cebus monkey plasma lipoproteins, we have used an ultracentrifugally generated density gradient to isolate two distinct species of low density lipoproteins (LDL). Compositional analyses revealed that each of the ultracentrifugally isolated fractions was enriched in cholesteryl esters and contained a sing...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Puppione DL,Nicolosi RJ,Kowala MC,Schumaker VN

    更新日期:1989-05-01 00:00:00

  • Comparison of the binding sites of GSH S-transferases of the Ya- and Yb-subunit classes: effect of glutathione on the binding of bile acids.

    abstract::We have previously observed that the Ya subunit-containing glutathione (GSH) S-transferases from rat liver exhibit a common high affinity binding site for lithocholic acid, bilirubin, and sulfobromophthalein (BSP) (1984. J. Lipid Res. 25: 1177-1183). Subsequently we found that cholic acid and its amidates bound to a s...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Takikawa H,Kaplowitz N

    更新日期:1988-03-01 00:00:00

  • Synthesis and applicability of photolabile 7,7-azo analogues of natural bile salt precursors.

    abstract::In an approach to the identification of proteins involved in the side chain degradation of bile salt biosynthesis, the photolabile 7,7-azo derivatives of 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol, 5 beta-cholestane-3 alpha,7 alpha,12 alpha,26-tetrol and 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oa...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Gengenbacher T,Gerok W,Giese U,Kurz G

    更新日期:1990-02-01 00:00:00

  • Selective uptake of HDL cholesteryl esters is active in transgenic mice expressing human apolipoprotein A-I.

    abstract::The direct non-endocytotic uptake of cholesteryl esters (CE) from high density lipoprotein (HDL) plays a major role in HDL CE metabolism in rats and rabbits. In vitro evidence indicates it may also play such a role in humans. However, a study in mice (tracing the CE and apoA-I moieties of HDL) concluded that, while se...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Khoo JC,Pittman RC,Rubin EM

    更新日期:1995-03-01 00:00:00

  • LC-MS/MS analysis of carboxymethylated and carboxyethylated phosphatidylethanolamines in human erythrocytes and blood plasma.

    abstract::An amino group of phosphatidylethanolamine (PE) is considered as a target for nonenzymatic glycation, and the potential involvement of lipid glycation in the pathogenesis of diabetic complications has generated interest. However, unlike an early glycation product of PE (Amadori-PE), the occurrence and roles of advance...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.D004564

    authors: Shoji N,Nakagawa K,Asai A,Fujita I,Hashiura A,Nakajima Y,Oikawa S,Miyazawa T

    更新日期:2010-08-01 00:00:00

  • Determination of mRNA levels of cholesterol biosynthesis enzymes and LDL receptor using ribonuclease protection assay.

    abstract::We designed a rapid method for determining mRNA content of cholesterol biosynthesis enzymes and LDL receptor (LDLR) using a ribonuclease protection assay (RPA). 32P-labeled cRNA fragments for genes of human LDLR and the enzymes HMG-CoA synthase (HMGS), HMG-CoA reductase (HMGR), mevalonate kinase (MK), farnesyl pyropho...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Shimokawa T,Kawabe Y,Honda M,Yazaki Y,Matsumoto A,Itakura H,Kodama T

    更新日期:1995-09-01 00:00:00

  • Incorporation of labeled cholesterol esters into chylomicrons in vitro.

    abstract::Labeled cholesterol esters were incorporated into chylomicrons in vitro by adding an acetone solution of the cholesterol ester to a suspension of washed chylomicrons. The physical and metabolic properties of the added labeled ester were the same as those of cholesterol esters incorporated into chylomicrons in vivo, ex...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Quarfordt SH,Goodman DS

    更新日期:1966-09-01 00:00:00

  • Effect of long chain polyunsaturated fatty acids in the sn-2 position of phosphatidylcholine on the interaction with recombinant high density lipoprotein apolipoprotein A-I.

    abstract::The effects of polyunsaturated fatty acids (PUFA) on the structure of recombinant high density lipoprotein (rHDL) was investigated using homogeneous particles containing phosphatidylcholine (PC), [3H]cholesterol, and apolipoprotein A-I (apoA-I). The PC component of the rHDL contained sn -1 16:0 and sn -2 18:1 (POPC), ...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Huggins KW,Curtiss LK,Gebre AK,Parks JS

    更新日期:1998-12-01 00:00:00

  • Rat apolipoprotein C-II lacks the conserved site for proteolytic cleavage of the pro-form.

    abstract::Apolipoprotein C-II (apoC-II) plays a critical role in the metabolism of plasma lipoproteins as an activator for lipoprotein lipase. Human apoC-II consists of 79 amino acid residues (pro-apoC-II). A minor fraction is converted to a mature form by cleavage at the site QQDE releasing the 6 amino-terminal residues. We ha...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Andersson Y,Thelander L,Bengtsson-Olivecrona G

    更新日期:1991-11-01 00:00:00

  • Apolipoprotein E genotyping using the polymerase chain reaction and allele-specific oligonucleotide primers.

    abstract::A method for apolipoprotein (apo) E genotyping was developed using the polymerase chain reaction (PCR) with allele-specific oligonucleotide primers (ASP). Synthetic oligonucleotides with base-pair mismatches at the 3' terminus were used as primers to amplify the apoE gene in subjects previously phenotyped using isoele...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Main BF,Jones PJ,MacGillivray RT,Banfield DK

    更新日期:1991-01-01 00:00:00

  • LDL and HDL enriched in triglyceride promote abnormal cholesterol transport.

    abstract::Hypertriglyceridemia induces multiple changes in lipoprotein composition. Here we investigate how one of these modifications, triglyceride (TG) enrichment, affects HDL and LDL function when this alteration occurs under conditions in which more polar components can naturally re-equilibrate. TG-enriched lipoproteins wer...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Skeggs JW,Morton RE

    更新日期:2002-08-01 00:00:00

  • Resistin expression in 3T3-L1 adipocytes is reduced by arachidonic acid.

    abstract::The resistin gene is expressed in adipocytes and encodes a protein proposed to link obesity and type 2 diabetes. Increased plasma FFA is associated with insulin resistance. We examined the effect of separate FFAs on the expression of resistin mRNA in cultured murine 3T3-L1 adipocytes. The FFAs tested did not increase ...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M400348-JLR200

    authors: Haugen F,Zahid N,Dalen KT,Hollung K,Nebb HI,Drevon CA

    更新日期:2005-01-01 00:00:00

  • Enzymatic sulfation of glycochenodeoxycholic acid by tissue fractions from adult hamsters.

    abstract::Using a radiometric assay with glycochenodeoxycholic acid as substrate, bile acid:3'-phosphoadenosine-5'-phosphosulfate sulfotransferase activity was found in 105,000 g supernatant fractions of liver, proximal intestine, and adrenal gland homogenates from adult hamsters. Optimum conditions for measurement of the hepat...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:

    authors: Barnes S,Burhol PG,Zander R,Haggstrom G,Settine RL,Hirschowitz BI

    更新日期:1979-11-01 00:00:00

  • An in situ perfusion protocol of rat epididymal adipose tissue useful in metabolic studies.

    abstract::Experimental approaches involving the perfusion of tissues and organs offer the advantage of improved physiological relevance over the use of isolated tissues or cells while at the same time being much more controlled and tissue-specific than studies in vivo. Nevertheless, there have been few metabolic studies perform...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.D500016-JLR200

    authors: Cònsol G,Moles A,Ricart-Jané D,Llobera M

    更新日期:2005-08-01 00:00:00

  • Blocking gp130 signaling suppresses autotaxin expression in adipocytes and improves insulin sensitivity in diet-induced obesity.

    abstract::Autotaxin (ATX), which is highly expressed and secreted by adipocytes, functions as the key enzyme to generate lysophosphatidic acid (LPA) from lysophosphatidylcholine. Adipose tissue is the main source of circulating ATX that modulates plasma LPA levels. Upregulation of ATX expression in obese patients and mice is cl...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M075655

    authors: Sun S,Wang R,Song J,Guan M,Li N,Zhang X,Zhao Z,Zhang J

    更新日期:2017-11-01 00:00:00

  • Implications of lipid moiety in oligomerization and immunoreactivities of GPI-anchored proteins.

    abstract::Glycosylphosphatidylinositol (GPI) enriches GPI-anchored proteins (GPI-AP) in lipid rafts by intimate interaction of its lipid moiety with sphingolipids and cholesterol. In addition to such lipid-lipid interactions, it has been reported that GPI may interact with protein moiety linked to GPI and affect protein conform...

    journal_title:Journal of lipid research

    pub_type: 杂志文章

    doi:10.1194/jlr.M034421

    authors: Seong J,Wang Y,Kinoshita T,Maeda Y

    更新日期:2013-04-01 00:00:00