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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5585
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pubmed:dateCreated |
2002-8-23
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pubmed:abstractText |
Every year, approximately 450,000 individuals in the United States die suddenly of cardiac arrhythmia. We identified a variant of the cardiac sodium channel gene SCN5A that is associated with arrhythmia in African Americans (P = 0.000028) and linked with arrhythmia risk in an African-American family (P = 0.005). In transfected cells, the variant allele (Y1102) accelerated channel activation, increasing the likelihood of abnormal cardiac repolarization and arrhythmia. About 13.2% of African Americans carry the Y1102 allele. Because Y1102 has a subtle effect on risk, most carriers will never have an arrhythmia. However, Y1102 may be a useful molecular marker for the prediction of arrhythmia susceptibility in the context of additional acquired risk factors such as the use of certain medications.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1095-9203
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
23
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pubmed:volume |
297
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1333-6
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:12193783-Adolescent,
pubmed-meshheading:12193783-Adult,
pubmed-meshheading:12193783-African Continental Ancestry Group,
pubmed-meshheading:12193783-Aged,
pubmed-meshheading:12193783-Alleles,
pubmed-meshheading:12193783-Amino Acid Sequence,
pubmed-meshheading:12193783-Arrhythmias, Cardiac,
pubmed-meshheading:12193783-Case-Control Studies,
pubmed-meshheading:12193783-Cell Line,
pubmed-meshheading:12193783-Child,
pubmed-meshheading:12193783-Electrocardiography,
pubmed-meshheading:12193783-Female,
pubmed-meshheading:12193783-Genetic Predisposition to Disease,
pubmed-meshheading:12193783-Genetic Variation,
pubmed-meshheading:12193783-Humans,
pubmed-meshheading:12193783-Ion Channel Gating,
pubmed-meshheading:12193783-Long QT Syndrome,
pubmed-meshheading:12193783-Male,
pubmed-meshheading:12193783-Middle Aged,
pubmed-meshheading:12193783-Molecular Sequence Data,
pubmed-meshheading:12193783-Patch-Clamp Techniques,
pubmed-meshheading:12193783-Pedigree,
pubmed-meshheading:12193783-Point Mutation,
pubmed-meshheading:12193783-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:12193783-Probability,
pubmed-meshheading:12193783-Risk Factors,
pubmed-meshheading:12193783-Sodium Channels,
pubmed-meshheading:12193783-Syncope,
pubmed-meshheading:12193783-Transfection
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pubmed:year |
2002
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pubmed:articleTitle |
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
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pubmed:affiliation |
Department of Cardiology, Children's Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA. igor@enders.tch.harvard.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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