Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 209
Filter
3.
5.
QJM ; 103(6): 441-3, 2010 Jun.
Article in English | MEDLINE | ID: mdl-19808701
6.
QJM ; 102(3): 231-2, 2009 Mar.
Article in English | MEDLINE | ID: mdl-19141494
7.
8.
Reprod Biomed Online ; 10 Suppl 1: 133-6, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15820025

ABSTRACT

Eugenics was first debated by the ancient Greeks, particularly Plato and Aristotle, developed in the nineteenth century by Francis Galton and Charles Darwin, and then abused in the twentieth century by right-wing politicians. With the new methods of assisted conception combined with the use of genetic markers, all the old problems of eugenics have resurfaced. Gender selection, embryo selection, preimplantation genetic diagnosis of common disease, and gene replacement techniques (somatic cells) have added greatly to the power of the modern eugenicist. How are these procedures to be monitored and regulated? What is the role of the State compared with individual families for the implementation of the new methodologies? Some of these issues will be discussed.


Subject(s)
Bioethical Issues , Eugenics , Eugenics/history , Europe , Genetic Testing/ethics , History, 19th Century , History, 20th Century , Human Rights , Humans , Reproductive Techniques, Assisted/ethics , United States
9.
Atheroscler Suppl ; 3(1): 27-33, 2002 May.
Article in English | MEDLINE | ID: mdl-12044583

ABSTRACT

Fifteen polymorphisms in six lipid transport genes were studied in a German population for relationships with dyslipidemia and coronary artery disease (CAD), to investigate a possible genetic basis for the marked differences in mortality rates from coronary heart disease within Europe. In other populations these polymorphisms have all been associated with CAD or with phenotypes known to predispose to CAD. The apoAI PstI polymorphism (P<0.005) and the lipoprotein lipase Ser(447)-Ter mutation (P<0.005) were associated with plasma triglyceride concentrations. Additionally, the apoAI PstI polymorphism (P<0.05), the apoB XbaI polymorphism (P<0.05) and apoE phenotypes (P<0.05) were associated with plasma cholesterol concentrations. However, none of the allele frequencies of the polymorphisms studied were related to the presence, or absence, of coronary artery disease. Associations between five polymorphisms representing four lipid transport gene loci and dyslipidemia were demonstrated in this German population. It is possible that predisposition to dyslipidemia in Germany involves a particular selection of polymorphic loci, which are different from those identified in other European countries.


Subject(s)
Coronary Artery Disease/genetics , Hyperlipidemias/genetics , Lipid Metabolism , Adult , Biological Transport/genetics , Coronary Artery Disease/epidemiology , Gene Frequency , Genetic Variation , Germany/epidemiology , Humans , Hyperlipidemias/epidemiology , Male , Middle Aged , Polymorphism, Genetic
10.
Clin Sci (Lond) ; 100(2): 183-90, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11171287

ABSTRACT

Fifteen common polymorphic variants at six loci (apolipoproteins AI, B, CIII and E, hepatic lipase and lipoprotein lipase) involved in plasma lipid transport have been studied in 210 northern Spanish men, of whom 98 had proven coronary artery disease. The other 112 men were clinically free from coronary artery disease and acted as controls. The genotypes were investigated for relationships with plasma lipid and lipoprotein levels, as well as for the presence of coronary artery disease. As expected, the mean levels of plasma triacylglycerols (triglycerides) and lipoprotein (a) and the number of smokers were significantly higher in the disease group, and high-density lipoprotein (HDL)-cholesterol was significantly lower. Surprisingly, plasma cholesterol and low-density lipoprotein cholesterol were not different between the two groups. With regard to the common mutations, plasma triacylglycerol levels were related to the HindIII variants of lipoprotein lipase (P<0.05), to the apolipoprotein CIII variant (C3175G in exon 4) and to the apolipoprotein AI XmnI polymorphisms (P<0.05 and P<0.02 respectively). The apolipoprotein E variants were related to plasma cholesterol (P<0.05), HDL-cholesterol (P<0.02), plasma triacylglycerols (P<0.05) and the triacylglycerol/HDL ratio (P<0.01). Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P=0.02). The possible functional effects of these common mutations are discussed.


Subject(s)
Coronary Disease/genetics , Genetic Predisposition to Disease , Lipids/blood , Adult , Age of Onset , Apolipoproteins/blood , Apolipoproteins/genetics , Biological Transport , Case-Control Studies , Cholesterol/blood , Coronary Disease/blood , Coronary Disease/ethnology , Genotype , Humans , Lipoprotein Lipase/genetics , Male , Middle Aged , Mutation , Spain , Statistics as Topic , Triglycerides/blood
11.
Hum Reprod Genet Ethics ; 6(2): 39-48, 2000.
Article in English | MEDLINE | ID: mdl-12530374

ABSTRACT

Many new genetic markers have become available for use in the diagnosis, prognosis or risk prediction of common multifactorial disease such as venous thrombo-embolism, coronary artery disease, dementias and some cancers. Regulation or legislation of their application in the fields of the family, employment, life assurance, confidentiality and property law is required. This is made difficult because of the rapid pace of genetic discoveries and their derived technologies, the diversity of opinions on the legitimate application of these new techniques, and the pluralistic and evolving social norms of society regarding the use of the new genetic methods. This paper examines some of the problems that can arise when regulation is attempted in each of the above fields. A variety of solutions such as referenda, moratoria, ethical codes of professional bodies or the drafting of scientifically accurate and appropriate legislation depending on particular circumstances are discussed as a means of achieving a flexible and responsive approach to the challenges posed by the use of the new genetic markers.


Subject(s)
Genetic Markers , Genetic Testing/legislation & jurisprudence , Genetic Testing/methods , Confidentiality , Databases, Nucleic Acid , Employment , Eugenics , Family , Genetic Privacy , Government Regulation , Guidelines as Topic , Human Rights , Humans , Insurance , Internationality , Ownership , Preimplantation Diagnosis , Prejudice , Societies, Medical , Tissue Donors , United Kingdom
12.
QJM ; 92(4): 223-32, 1999 Apr.
Article in English | MEDLINE | ID: mdl-10396611

ABSTRACT

Many genetic markers that relate to common multifactorial disease in adults have been identified during the past 15 years. Their use as adjuncts for the diagnosis, prognosis, prediction of disease or targeting therapy for these disorders has begun, good examples being the Factor V Leiden mutation for venous-thromboembolism, lipoprotein lipase mutations for hypertriglyceridaemia and the apolipoprotein E4 variant for Alzheimer's dementia. However, extensive gene-gene and gene-environment interactions make their use more complex than markers for the simpler monogenic disorders (such as cystic fibrosis, or Duchenne's muscular dystrophy). Possible misapplication of the genetic markers for multifactorial disease in the fields of risk prediction, direct sales to the public, life assurance, employment rights, and legislation for regulation of their use are discussed.


Subject(s)
Genetic Diseases, Inborn/diagnosis , Multifactorial Inheritance , Adult , Blastocyst , DNA , Employment , Genetic Markers , Genetic Testing/legislation & jurisprudence , Humans , Insurance, Health , Insurance, Life , Polymorphism, Genetic , Prejudice , Prenatal Diagnosis , Risk
13.
Am Heart J ; 137(4 Pt 1): 698-705, 1999 Apr.
Article in English | MEDLINE | ID: mdl-10097233

ABSTRACT

BACKGROUND: Genes encoding components of the renin-angiotensin system have been associated with elevated blood pressure (BP) and an increased risk of coronary artery disease. To explore the role of the angiotensinogen (AGT) gene in coronary atherosclerosis and thrombosis, we studied the effect of the AGT M235T gene variant on plasma AGT levels and BP in patients with coronary artery disease and in the subgroup of survivors of myocardial infarction as compared with angiographically defined control subjects. METHODS AND RESULTS: This was a case-control study of 301 white male subjects examined at Frankfurt University medical center. Plasma AGT levels increased stepwise according to the number of T235 alleles present (no T235 allele, 14.8 +/- 3.9 nmol/L; 1 allele, 15.7 +/- 5.1 nmol/L; 2 alleles, 17.3 +/- 4.7 nmol/L; P =.006). In a multivariate model, circulating AGT emerged as the most important predictor of diastolic pressure (P =.001). In addition, AGT M235T gene polymorphism remained a significant predictor of diastolic BP in a multivariate model adjusted for age, body mass index, fasting glucose, apolipoprotein B, presence of coronary artery disease, and treatment with antihypertensive agents ( P <.05). Finally, homozygosity for T235 was associated with increased univariate risk of coronary artery disease and myocardial infarction (odds ratio estimates 1.5; 95% confidence intervals 1.1 to 2.1, P =.03, and 1.0 to 2.1, P =.05, respectively). CONCLUSIONS: The significant relations observed between the AGT M235T variant, its protein product, and the cardiovascular disease phenotypes provide evidence for a possible role of elevated circulating AGT in the pathogenesis of coronary artery disease.


Subject(s)
Angiotensinogen/blood , Angiotensinogen/genetics , Cardiovascular Diseases/genetics , Polymorphism, Genetic , Renin-Angiotensin System/genetics , Alleles , Blood Pressure/genetics , Case-Control Studies , Coronary Artery Disease/genetics , Coronary Thrombosis/genetics , Gene Frequency , Genotype , Humans , Male , Middle Aged , Multivariate Analysis , Myocardial Infarction/genetics , Odds Ratio , Peptidyl-Dipeptidase A/blood , Risk Factors
15.
Curr Atheroscler Rep ; 1(2): 97-100, 1999 Sep.
Article in English | MEDLINE | ID: mdl-11122697

ABSTRACT

Many genetic markers that relate to common multifactorial disease in adults have been identified during the past 15 years. Their use as adjuncts for the diagnosis, prognosis, prediction of disease or targeting therapy for these disorders has commenced; good examples being the Factor V Leiden mutation for venous-thromboembolism, lipoprotein lipase mutations for hypertriglyceridemia and the apolipoprotein E4 variant for Alzheimer's dementia. However, extensive gene-gene interactions and gene-environment interactions make their use more complex than markers for the simpler monogenic disorders (eg, cystic fibrosis, or Duchennne's muscular dystrophy). Possible misapplications of the use of genetic markers for multifactorial disease are discussed.


Subject(s)
Genetic Markers , Eugenics , Forecasting , Humans , Polymorphism, Genetic , Prenatal Diagnosis
16.
J Med Ethics ; 24(4): 263-7, 1998 Aug.
Article in English | MEDLINE | ID: mdl-9752630

ABSTRACT

With the recent developments in the Human Genome Mapping Project and the new technologies that are developing from it there is a renewal of concern about eugenic applications. Francis Galton (b1822, d1911), who developed the subject of eugenics, suggested that the ancient Greeks had contributed very little to social theories of eugenics. In fact the Greeks had a profound interest in methods of supplying their city states with the finest possible progeny. This paper therefore reviews the works of Plato (The Republic and Politics) and Aristotle (The Politics and The Athenian Constitution) which have a direct bearing on eugenic techniques and relates them to methods used in the present century.


Subject(s)
Eugenics/history , Greek World/history , Philosophy/history , History, 19th Century , History, 20th Century , History, Ancient , Humans , Mandatory Programs , Medicine in Literature
18.
Mol Genet Metab ; 64(3): 177-83, 1998 Jul.
Article in English | MEDLINE | ID: mdl-9719626

ABSTRACT

The large ethnic differences in prevalence of coronary artery disease between China and Europe may relate to both genetic and environmental differences. To assess possible genetic factors we have therefore studied the frequencies of disease-related variants of genes involved in lipid transport in 69 hypertriglyceridemic Chinese subjects and 74 healthy Chinese controls. The loci studied include lipoprotein lipase (Asp9Asn, Asn291Ser, Ser447Ter, and Thr361Thr); apolipoprotein A1 (restriction sites at MspI, XmnI, and PstI); and apolipoprotein (apo) CIII (G3175C). All these variants have been shown in previous literature publications to relate to either dyslipidemia and/or premature coronary heart disease in Caucasians. Two disease-related genetic variants in Europeans (Asp9Asn and Asn291Ser) were not found in the Chinese sample. The apo CIII G3175C variant was found more frequently in the upper tertile distributions for apolipoprotein CIII, apolipoprotein E, and plasma triglyceride/HDL ratios (P < 0.05). The rare allele of the apo AI MspI restriction site polymorphic variant was also found more frequently in the upper tertiles for apo CIII, apo E, and plasma triglyceride/HDL ratios (P < 0.04). Eleven of the most lipaemic Chinese subjects (with fasting plasma triglycerides >700 mg/dl) were analyzed for DNA sequence variation. One novel mutation was observed C1338A (which is a silent mutation at Thr361) and two others that are also found in European subjects (Ala261Thr and Ser447Ter). We conclude that genetic differences between Chinese and Europeans may have an effect on the prevalence of coronary artery risk factors involved in lipid transport, and further extended study is warranted.


Subject(s)
Apolipoprotein A-I/genetics , Apolipoproteins C/genetics , Gene Frequency , Genetic Variation , Hypertriglyceridemia/genetics , Lipoprotein Lipase/genetics , Alleles , Apolipoprotein A-I/blood , Apolipoprotein C-III , Apolipoproteins C/blood , Asian People/genetics , China/epidemiology , Cholesterol, HDL/blood , Coronary Disease/blood , Coronary Disease/ethnology , Coronary Disease/genetics , Europe/epidemiology , Female , Genotype , Humans , Hypertriglyceridemia/blood , Hypertriglyceridemia/ethnology , Lipoprotein Lipase/blood , Male , Middle Aged , Polymorphism, Restriction Fragment Length , Triglycerides/blood , White People/genetics
20.
Nat Med ; 4(6): 644, 1998 Jun.
Article in English | MEDLINE | ID: mdl-9623951
SELECTION OF CITATIONS
SEARCH DETAIL
...