Linked Life Data

9543106

Source:http://linkedlifedata.com/resource/pubmed/id/9543106

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1998-5-22
pubmed:abstractText
A common polymorphism has been described in the methylenetetrahydrofolate reductase (MTHFR) gene, substituting an alanine (A) for a valine (V), where the V allele results in a thermolabile enzyme with reduced activity. This polymorphism is easily detectable by PCR amplification and digestion with HinfI restriction enzyme. We describe the use of the MADGE high throughput genotyping system for rapid typing of this polymorphism. Seven hundred and eighty five individuals participating in the European Atherosclerosis Research Study II (EARS II), aged 22-25 from 14 universities in 12 countries across Europe were genotyped for this polymorphism. The frequency of the V allele was 0.32 overall (95% CI; 0.30-0.35), but was significantly lower in the Baltic countries (0.23; 95% CI; 0.19-0.28) compared with the other regions of Europe (0.37; 95% CI; 0.32-0.38) (P < 0.001). Individuals homozygous for the V allele had statistically significant (P < 0.001) higher plasma homocysteine (16.5 micromol/l) compared with those heterozygous for an A allele (10.4 micromol/l) or homozygous for an A allele (10.0 micromol/l). This effect was seen in all countries and regions of Europe. Mean plasma homocysteine levels were significantly higher in the South compared to the Baltic, UK and Middle regions (P = 0.001), but this difference was not explained by the difference in the frequency of the V allele in the samples. This polymorphism explained 12.3% of the total sample variance in plasma homocysteine, other measured factors (smoking, alcohol consumption, systolic blood pressure, physical activity) explained 0.7%. This study demonstrates the large and consistent impact of the thermolabile MTHFR variant on plasma homocysteine levels in different European populations, and shows a regional difference in the levels of homocysteine that must be explained by other genetic or environmental factors.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0021-9150
pubmed:author
pubmed:issnType
Print
pubmed:volume
136
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
347-54
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:9543106-Adolescent, pubmed-meshheading:9543106-Adult, pubmed-meshheading:9543106-Alanine, pubmed-meshheading:9543106-Alleles, pubmed-meshheading:9543106-Europe, pubmed-meshheading:9543106-Gene Frequency, pubmed-meshheading:9543106-Genetics, Population, pubmed-meshheading:9543106-Genotype, pubmed-meshheading:9543106-Heterozygote, pubmed-meshheading:9543106-Homocysteine, pubmed-meshheading:9543106-Homozygote, pubmed-meshheading:9543106-Humans, pubmed-meshheading:9543106-Male, pubmed-meshheading:9543106-Methylenetetrahydrofolate Reductase (NADPH2), pubmed-meshheading:9543106-Myocardial Infarction, pubmed-meshheading:9543106-Oxidoreductases Acting on CH-NH Group Donors, pubmed-meshheading:9543106-Point Mutation, pubmed-meshheading:9543106-Polymorphism, Genetic, pubmed-meshheading:9543106-Valine
pubmed:year
1998
pubmed:articleTitle
C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentration in different European populations. EARS group.
pubmed:affiliation
Department of Medicine, University College London Medical School, The Rayne Institute, UK. v.gudnason@ucl.ac.uk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't