Genetics of hyperhomocysteinaemia in cardiovascular disease.

Abstract:

:Homocysteine, a sulphur amino acid, is a branch-point intermediate of methionine metabolism. It can be degraded in the transsulphuration pathway to cystathionine, or remethylated to methionine via the remethylation pathway. In both pathways, major genetic defects that cause enzyme deficiencies are associated with very high plasma homocysteine concentrations and excretion of homocystine into the urine. Mildly elevated plasma homocysteine concentrations are thought to be an independent and graded risk factor for both arterial occlusive disease and venous thrombosis. Genetic defects in genes encoding enzymes involved in homocysteine metabolism, or depletion of important cofactors or (co)substrates for those enzymes, including folate, vitamin B(12) and vitamin B(6), may result in elevated plasma homocysteine concentrations. Plasma homocysteine concentrations are also influenced by dietary and lifestyle factors. In the last decade, several studies have been conducted to elucidate the genetic determinants of hyperhomocysteinaemia in patients with cardiovascular disease. We report on both environmental and genetic determinants of hyperhomocysteinaemia and give a detailed overview of all the genetic determinants that have been reported to date.

journal_name

Ann Clin Biochem

authors

Lievers KJ,Kluijtmans LA,Blom HJ

doi

10.1258/000456303321016169

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

46-59

issue

Pt 1

eissn

0004-5632

issn

1758-1001

journal_volume

40

pub_type

杂志文章,评审
  • Erythrocyte and plasma magnesium status in Nigerians with diabetes mellitus.

    abstract::Erythrocyte and fasting plasma magnesium were assayed by a dyebinding colorimetric method using the metallochromic dye, Calmagite, in 51 diabetic Nigerians and 25 controls. Erythrocyte magnesium concentrations were similar in the diabetics and the controls. Fasting plasma magnesium concentrations were significantly lo...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328902600111

    authors: Olukoga AO,Erasmus RT,Adewoye HO

    更新日期:1989-01-01 00:00:00

  • Development of a rapid liquid chromatography tandem mass spectrometry method for the quantitation of serum dexamethasone and its clinical verification.

    abstract::Background Measurement of serum dexamethasone during the overnight dexamethasone-suppression test has been recommended to reduce false-positive results when investigating Cushing's syndrome or increasingly commonly found adrenal incidentalomas. Despite this, there remains a paucity of well-validated dexamethasone meth...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/0004563218766566

    authors: Hawley JM,Owen LJ,Debono M,Newell-Price J,Keevil BG

    更新日期:2018-11-01 00:00:00

  • Urinary free catecholamines--diagnostic application of an HPLC technique to the investigation of neural crest tumours.

    abstract::Experience in the use of an in-house urinary free catecholamine assay for the investigation of possible neural crest tumours in a District General Hospital laboratory is described. Elevated excretion of catecholamines and vanillylmandelic acid was found in a number of cases including phaeochromocytoma and neuroblastom...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328702400512

    authors: Davidson DF

    更新日期:1987-09-01 00:00:00

  • Influence of acetate and bicarbonate dialysate on blood short- and long-chain acyl carnitine in adult pyelonephritis patients.

    abstract::The effect of acetate and bicarbonate haemodialysis (HD) on the concentrations of erythrocyte, whole-blood and plasma total carnitine (TC), free carnitine (FC), short- (SC) and long-chain acylcarnitine (LC) and acylcarnitine (AC) as well as the ratio of AC to FC was investigated in 30 healthy subjects (15 men and 15 w...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456329903600106

    authors: Alhomida AS

    更新日期:1999-01-01 00:00:00

  • Macroprolactin(s): composition and reactivity in immunoassays and laboratory interpretation of results of an unusual patient serum.

    abstract:BACKGROUND:Macroprolactin is a high molecular mass complex of prolactin that may be the cause of elevated serum prolactin as determined by immunoassay. The composition of macroprolactin and its reactivity in immunoassays are variable but the complex has minimal bioactivity in vivo. Hyperprolactinaemia due to unrecogniz...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1258/000456306775141830

    authors: Ellis AR,Fahie-Wilson M,Axcell M,Sands K,Hill RP

    更新日期:2006-01-01 00:00:00

  • A future for faecal haemoglobin measurements in the medical laboratory.

    abstract::Guaiac-based faecal occult blood tests (gFOBT) are still used in asymptomatic population bowel screening programmes but are being replaced by faecal immunochemical tests (FIT) for haemoglobin. gFOBT have many well-documented disadvantages and there is little evidence for their use in assessment of the symptomatic. Man...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章,评审

    doi:10.1258/acb.2012.012065

    authors: Fraser CG

    更新日期:2012-11-01 00:00:00

  • Investigation of the use of bilirubin oxidase to measure the apparent unbound bilirubin concentration in human plasma.

    abstract::An investigation into the use of bilirubin oxidase to measure the apparent concentration of unbound bilirubin in solutions of bilirubin or bilirubin/human serum albumin demonstrated (1) near linearity of oxidation rate with bilirubin concentration up to 16 mumol/L, (2) linearity with respect to enzyme concentration up...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328802500110

    authors: Goldfinch ME,Maguire GA

    更新日期:1988-01-01 00:00:00

  • Assessment of the Beckman System 1.

    abstract::The System 1 produced results for glucose and urea which were precise and accurate. It proved suitable as a general laboratory instrument as it samples 28 mul of specimen, is able to calibrate itself, produces results in three minutes, and has the capacity to analyse 56 samples an hour. ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456327701400179

    authors: Potezny N,Quelch J,Fuller B,Geary TD

    更新日期:1977-09-01 00:00:00

  • Drug interference in clinical chemistry: recommendation of drugs and their concentrations to be used in drug interference studies.

    abstract::A group of international experts prepared two lists of drugs with their serum/plasma and urine concentrations, which should be used when evaluating the performance of a new laboratory method. The two lists were verified by running in vitro interference studies in three European laboratories on Hitachi instruments. The...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章,多中心研究

    doi:10.1258/0004563011900696

    authors: Sonntag O,Scholer A

    更新日期:2001-07-01 00:00:00

  • Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes.

    abstract::A patient with sepsis and jaundice was admitted for diagnosis and treatment. Associated biochemical changes included increased C-reactive protein, conjugated bilirubin and gamma-glutamyltransferase, the duration of which was protracted. High urine coproporphyrin isomer-1 and immunostaining of liver tissue suggested Du...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1258/acb.2012.011279

    authors: Devgun MS,El-Nujumi AM,O'Dowd GJ,Barbu V,Poupon R

    更新日期:2012-11-01 00:00:00

  • A rapid HPLC method for monitoring plasma levels of caffeine and theophylline using solid phase extraction columns.

    abstract::A simple HPLC method for the determination of caffeine and theophylline in plasma is described. Separation of theobromine, paraxanthine, theophylline, beta-hydroxyethyltheophylline and caffeine is obtained using a mobile phase of 1% acetic acid/methanol (83:17, v/v) and a Waters Associates NOVA-PAK C18 column protecte...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328602300410

    authors: Pickard CE,Stewart AD,Hartley R,Lucock MD

    更新日期:1986-07-01 00:00:00

  • Pneumatic tube system induced haemolysis: assessing sample type susceptibility to haemolysis.

    abstract:BACKGROUND:The pneumatic tube system (PTS) has been implicated in inducing haemolysis. It is not known whether certain sample types are more susceptible to haemolysis than others. We assessed the level of haemolysis in commonly used sample types in the clinical biochemistry department when transported through the PTS. ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1258/000456304323019631

    authors: Sodi R,Darn SM,Stott A

    更新日期:2004-05-01 00:00:00

  • Discovery of microRNA expression profiles involved in regulating TGF-β2 expression in the tears of dry eye patients.

    abstract:BACKGROUND:To date, the difference in microRNA expression profiles in tears of dry eye patients and healthy people has not been reported. In current study, we evaluated the significance of microRNAs and transforming growth factor beta2 (TGF-β2) in distinguishing dry eye. METHODS:A total of 138 patients with dry eye fr...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/0004563220961746

    authors: Wang Q,Xie X,Li H,Hao S

    更新日期:2020-11-01 00:00:00

  • Immunoturbidimetric measurement of serum retinol-binding protein in renal and hepatic disease.

    abstract::Serum retinol-binding protein (RBP), with a biological half-life of less than 12 h, is a useful indicator of liver or kidney dysfunction. An automated immunoturbidimetric assay for the measurement of RBP has been developed using the Cobas-BIO centrifugal analyser and commercially available materials. Serum samples wit...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328802500309

    authors: Bankson DD,Rifai N,Silverman LM

    更新日期:1988-05-01 00:00:00

  • Serum lysophospholipase D/autotaxin may be a new nutritional assessment marker: study on prostate cancer patients.

    abstract:BACKGROUND:It is now established that the bioactive lipid lysophosphatidic acid (LPA) contributes to cancer initiation, progression and metastasis, including those of prostate cancer. LPA is produced in the serum and plasma mainly by conversion from lysophospholipids through the action of lysophospholipase D (lysoPLD),...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1258/000456307782268147

    authors: Nakamura K,Takeuchi T,Ohkawa R,Okubo S,Yokota H,Tozuka M,Aoki J,Arai H,Ikeda H,Ohshima N,Kitamura T,Yatomi Y

    更新日期:2007-11-01 00:00:00

  • Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma.

    abstract::We conducted an electrophoretic analysis of monoclonal gamma-globulin found in the serum of a patient with splenic marginal-zone lymphoma. This monoclonal protein showed electrophoretic mobility to the gamma region and reacted with anti-immunoglobulin (IgG) antiserum but not with anti-kappa or anti-lambda light chain ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1258/000456306776021490

    authors: Morita K,Kawamoto H,Takada H,Nakamura S,Ishii K,Okamoto Y

    更新日期:2006-03-01 00:00:00

  • Effects of bilirubin and its photoisomers on direct bilirubin measurement using bilirubin oxidase.

    abstract::We examined the reactivity of human serum albumin-bound bilirubin and its photoisomers as substrates for a direct bilirubin assay using bilirubin oxidase. The reduction of (EZ)-cyclobilirubin reached 100% 5 min after addition of the enzyme at any pH tested (3.5-7.4) in 0.1 mol/L phosphate buffer, whereas the reduction...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456320003700404

    authors: Itoh S,Kusaka T,Imai T,Isobe K,Onishi S

    更新日期:2000-07-01 00:00:00

  • Measurement of urinary free cortisol using the Acs:180 serum cortisol chemiluminescent immunoassay.

    abstract::Measurement of urinary free cortisol using the Bayer Automated Chemiluminescent System (ACS:180 PLUS) was evaluated and compared with an in-house extraction radioimmunoassay (RIA). Inter-assay coefficients of variation were acceptable, being respectively 5.3%, 4.8% and 3.8% at 141, 406 and 942 nmol/L (n=20) for the AC...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456320003700414

    authors: Kennedy DM,Selby C,Lawson N

    更新日期:2000-07-01 00:00:00

  • Screening of bacteria in urine using luciferin-luciferase assay of microbial ATP: a comparative study.

    abstract::A total of 3227 urine specimens were analysed to investigate the applicability of a firefly luciferase assay of microbial adenosine triphosphate (ATP) for the rapid screening of bacteriuria in clinical specimens. Urine sediment, dipslide culture, and three plate cultures were also investigated in the majority of the u...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328201900605

    authors: Ruokonen A,Koskinen M,Leinonen M,Tiilikainen A,Vihko R

    更新日期:1982-11-01 00:00:00

  • Measurement of copper, zinc and magnesium in serum and urine by DC plasma emission spectrometry.

    abstract::The application of a DC plasma emission spectrometer to the measurement of copper, zinc and magnesium in serum and urine is reported. Each assay requires only a simple dilution in 1% nitric acid. Comparisons with standard atomic absorption techniques showed good analytical agreement, especially for copper and magnesiu...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328502200512

    authors: Roberts NB,Fairclough D,McLoughlin S,Taylor WH

    更新日期:1985-09-01 00:00:00

  • Cystatin C.

    abstract::Clinical biochemists have long known the analytical and clinical limitations of creatinine and creatinine clearance measurement in the assessment of glomerular filtration rate (GFR). This background is reviewed in the article before assessing the utility of cystatin C, the most promising replacement biochemical marker...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章,评审

    doi:10.1258/0004563021901847

    authors: Newman DJ

    更新日期:2002-03-01 00:00:00

  • The implementation of a system for managing analytical quality in networked laboratories.

    abstract:BACKGROUND:In a network of laboratories analytical variability between instruments, even of the same type, may exist for reasons beyond the control of laboratory staff. Controlling variability is a prerequisite for the application of shared reference ranges and for ensuring the transferability of patient test results. ...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1258/acb.2010.010005

    authors: Jassam N,Lindsay C,Harrison K,Thompson D,Bosomworth MP,Barth JH

    更新日期:2011-03-01 00:00:00

  • A modified method for the estimation of galactose-1-phosphate.

    abstract::The measurement of galactose-1-phosphate has been advocated for monitoring galactosaemia. A radioenzymatic method is described in which red-cell haemolysates are incubated with radiolabelled uridine diphospho-glucose and exogenous galactose-1-phosphate uridyl transferase. Labelled glucose-1-phosphate is formed in prop...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328602300313

    authors: Dobbie JA,Holton JB

    更新日期:1986-05-01 00:00:00

  • Does the kidney injury molecule-1 predict cisplatin-induced kidney injury in early stage?

    abstract:BACKGROUND:It is not possible to diagnose acute kidney injury (AKI) in early stages with traditional biomarkers. Kidney injury molecule-1 (KIM-1) is a novel biomarker promising the diagnosis of AKI in early stages. We studied whether urinary and serum KIM-1 (KIM-1 U and KIM-1 S ) concentrations were useful in predictin...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/0004563214528312

    authors: Tekce BK,Uyeturk U,Tekce H,Uyeturk U,Aktas G,Akkaya A

    更新日期:2015-01-01 00:00:00

  • A comparison of three methods for the estimation of capillary blood glucose in filter paper spots.

    abstract::A comparison has been made between three methods for measuring capillary blood glucose collected on filter paper, including a new method using a Beckman glucose analyser 2. The methods are suitable for use with capillary blood spots collected onto filter paper for monitoring the control of diabetic patients. Their acc...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328201900105

    authors: Taylor RP,Pennock CA

    更新日期:1982-01-01 00:00:00

  • A study of the hypouricaemic effect of tiaprofenic acid.

    abstract::Tiaprofenic acid is a non-steroidal anti-inflammatory drug which also has hypouriceamic effect. Studies involving 10 healthy volunteers were designed to investigate the mode of this effect. We postulate that the site of action of tiaprofenic acid is at the cell membrane, the mechanism being an interference with the tr...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328802500601

    authors: Lyfar V,Fernandes L,Thornton E,Cook JG

    更新日期:1988-11-01 00:00:00

  • A continuous flow method for the estimation of serum alpha-amylase activity.

    abstract::An automated assay for serum amylase is described. Using the AutoAnalyzer II the method employs, as substrate, a solution of dyed amylopectin which is commercially available (DyAmyl-L). After incubation of serum and substrate at 55 degrees C, 1.0 mol/lKOH is introduced and the coloured products of enzymic hydrolysis a...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456327701400190

    authors: Carney JA,Osibeluwo SA,Clements JA,Jay RF

    更新日期:1977-11-01 00:00:00

  • Development of a rapid assay for the analysis of serum cortisol and its implementation into a routine service laboratory.

    abstract:BACKGROUND:LC-MS/MS is rapidly becoming the technology of choice for measuring steroid hormones. We have developed a rapid LC-MS/MS assay for the routine analysis of serum cortisol. We have used this assay to investigate the effects of gender and exogenous steroid interference on the immunoassay measurement of serum co...

    journal_title:Annals of clinical biochemistry

    pub_type: 临床试验,杂志文章

    doi:10.1177/0004563212473448

    authors: Owen LJ,Adaway JE,Davies S,Neale S,El-Farhan N,Ducroq D,Evans C,Rees DA,MacKenzie F,Keevil BG

    更新日期:2013-07-01 00:00:00

  • Analytical and clinical evaluation of three sensitive thyrotropin assays.

    abstract::Three sensitive assays (Behring, Organon and LKB-Pharmacia) for measurement of serum thyrotropin (TSH) were evaluated. All three assays showed good precision, sensitivity, linearity and for practical purposes negligible high dose hook effects. The correlations between the assays were excellent, but due to standardisat...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1177/000456328902600609

    authors: Bonte HA,Vermes I,v d Sluijs Veer G

    更新日期:1989-11-01 00:00:00

  • Are biochemistry interpretative comments helpful? Results of a general practitioner and nurse practitioner survey.

    abstract:BACKGROUND:Adding or incorporating clinical interpretative comments on biochemistry results is widespread in UK laboratories; although this consumes considerable human resource, there is still little evidence to suggest that it is either effective or appreciated by our clinical colleagues. I therefore decided to survey...

    journal_title:Annals of clinical biochemistry

    pub_type: 杂志文章

    doi:10.1258/acb.2007.007134

    authors: Barlow IM

    更新日期:2008-01-01 00:00:00