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Article
A PvuII polymorphism in the 5′ flanking region of the apolipoprotein AIV gene: its use to study genetic variation determining serum lipid and apolipoprotein concentration
We have used a 1.05-kb unique genomic fragment from the 5′ end of the apolipoprotein (apo) CIII gene to identify a restriction fragment length polymorphism (RFLP) detected with the restriction enzyme PvuII, in th...
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Article
Relationships between DNA and protein polymorphisms of apolipoprotein B
The associations between four restriction fragment length polymorphisms (RFLPs) of the gene for human apolipoprotein B (apo B) and five antigen group (Ag) protein-polymorphisms of apo B have been investigated ...
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Chapter
Use of DNA technology in the diagnosis of occult atherosclerotic disease
Cardiovascular disease (CVD) is a major contributor to mortality in western industrialised countries [1]. Its principle cause is atherosclerosis, with clinical effects only becoming apparant after years of asy...
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Article
The Molecular Genetics of Pediatric Lipid Disorders: Recent Progress and Future Research Directions
ABSTRACT: Over the last 10 years, the explosion of molecular biology and molecular genetic techniques have allowed major advances in the diagnosis and management of a wide variety of human disorders. These ran...
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Protocol
Microtiter Array Diagonal Gel Electrophoresis (MADGE) for Population Scale Genotype Analyses
Human populations display enormous genetic variation, evident both at the phenotypic level and at the DNA level. These variations include both single “mutations” causative of profound disease and variations th...
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Protocol
High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis
In most patients with familial hypercholesterolemia (FH) the disorder is caused by a mutation in the gene coding for the low density lipoprotein receptor (LDL-R) (1). The variety of different defects observed in ...
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Article
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands
This study reports the characterization of 60% of low density lipoprotein receptor (LDLR) gene mutations in 150unrelated Greek familial hypercholes-terolaemia (FH) heterozygous children by the analysis of six...
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Article
Hugh Markus (Editor) Report on stroke genetics
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Article
The serum angiotensin-converting enzyme and angiotensin II response to altered posture and acute exercise, and the influence of ACE genotype
The deletion (D) rather than insertion (I) allele of the angiotensin-converting enzyme (ACE) gene is associated with greater ACE activity. We examined: (1) the influence of posture change (recumbent to seated)...
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Article
Open AccessAn interaction between the interleukin-6 -174G>C gene variant and urinary protein excretion influences plasma oxidative stress in subjects with type 2 diabetes
Microalbuminuria and subsequent progression to proteinuria and nephropathy is associated with increased oxidative stress, increased inflammatory cytokines and increased cardiovascular (CVD) risk. The common fu...
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Article
Open AccessDoes angiotensin-1 converting enzyme genotype influence motor or cognitive development after pre-term birth?
Raised activity of the renin-angiotensin system (RAS) may both amplify inflammatory and free radical responses and decrease tissue metabolic efficiency and thus enhance cerebral injury in the preterm infant. T...
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Article
Variation in the Interleukin-6 Gene Is Associated with Impaired Cognitive Development in Children Born Prematurely: A Preliminary Study
The pro-inflammatory cytokine IL-6 may be neurocytopathogenic, and elevated levels are associated with impaired neurological outcome among children born prematurely. However, the precise mechanisms underlying ...
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Article
Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth
The adult heart relies predominantly on fatty acids (FA) for energy generation, and defects in FA catabolism cause dramatic left ventricular (LV) growth in early age. Since lipoprotein lipase (LPL) is the key ...
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Article
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing
As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clini...
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Article
Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women
Common variants of TCF7L2, encoding a β-cell-expressed transcription factor, are strongly associated with increased risk of type 2 diabetes (T2D). We examined this association using both prospective and case-cont...
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Article
Acute renal failure in a patient with paroxysmal cold hemoglobinuria
Acute renal failure following auto-immune hemolysis is rare. We report a child with acute paroxysmal cold hemoglobinuria (PCH) complicated by renal failure. She was treated by peritoneal dialysis and red blood...
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Article
Open AccessThe association of telomere length with paternal history of premature myocardial infarction in the European Atherosclerosis Research Study II
Inter-individual variability in telomere length is highly heritable and has been correlated with risk of coronary heart disease (CHD). Our aim was to determine the association of mean leukocyte telomere length...
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Article
Open AccessAngiotensin-converting enzyme genotype and late respiratory complications of mustard gas exposure
Exposure to mustard gas frequently results in long-term respiratory complications. However the factors which drive the development and progression of these complications remain unclear. The Renin Angiotensin S...
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Article
Angiotensin-converting enzyme D allele does not influence susceptibility to acute hypoxic respiratory failure in children
The D allele of the I/D polymorphism in the angiotensin-converting enzyme (ACE) gene has been associated with an increased risk of ARDS in critically ill adults and severity of bronchopulmonary dysplasia in pre-t...
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Article
Open AccessRealising the potential of the family history in risk assessment and primary prevention of coronary heart disease in primary care: ADDFAM study protocol
Coronary heart disease (CHD) is the leading cause of death in the developed world, and its prevention a core activity in current UK general practice. Currently, family history is not systematically integrated ...