pubmed-article:7977384 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C0012655 | lld:lifeskim |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C0002351 | lld:lifeskim |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C1522384 | lld:lifeskim |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C0019721 | lld:lifeskim |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C0008669 | lld:lifeskim |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
pubmed-article:7977384 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
pubmed-article:7977384 | pubmed:issue | 6 | lld:pubmed |
pubmed-article:7977384 | pubmed:dateCreated | 1994-12-27 | lld:pubmed |
pubmed-article:7977384 | pubmed:abstractText | The long-QT (LQT) syndrome is a genetically complex disorder that is characterized by syncope and fatal ventricular arrhythmias. LQT syndrome, as defined by a prolonged electrocardiographic QT interval, has a higher incidence in females than in males and does not exhibit Mendelian transmission patterns in all families. Among those families that are nearly consistent with Mendelian transmission, linkage between a locus for LQT syndrome and the H-ras-1 locus on the short arm of chromosome 11 has been reported in some families but not in others. Earlier analyses suggesting that LQT syndrome might be caused by a gene in the HLA region of chromosome 6 were not confirmed by standard linkage analyses. Here, we present an analysis of HLA haplotype sharing among affected pedigree members, showing an excess of haplotype sharing in a previously published Japanese pedigree and possibly also in 15 families of European descent. The haplotypes shared by affected individuals derive from both affected and unaffected parents. In an analysis of independent (unrelated) HLA haplotypes, we also found a nonrandom distribution of HLA-DR genes in LQT syndrome patients compared with controls, suggesting an association between the LQT phenotype and specific HLA-DR genes. Our data indicate that DR2 has a protective effect and, particularly in males, that DR7 may increase susceptibility to the LQT syndrome. Thus, LQT syndrome may be influenced by genes on chromosomes 11 and 6, possibly with a sex-specific effect. These results provide a model for an effect of HLA-region genes inherited from either parent on the expression of an illness that may be determined principally by alleles at loci not linked to HLA. | lld:pubmed |
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pubmed-article:7977384 | pubmed:language | eng | lld:pubmed |
pubmed-article:7977384 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7977384 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:7977384 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7977384 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:7977384 | pubmed:month | Dec | lld:pubmed |
pubmed-article:7977384 | pubmed:issn | 0002-9297 | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:LewisR ARA | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:RobinsonJ LJL | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:SchwartzP JPJ | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:MossA JAJ | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:WeitkampL RLR | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:HallW JWJ | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:TzivoniDD | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:MacCluerJ WJW | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:VincentG MGM | lld:pubmed |
pubmed-article:7977384 | pubmed:author | pubmed-author:LocatiE HEH | lld:pubmed |
pubmed-article:7977384 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:7977384 | pubmed:volume | 55 | lld:pubmed |
pubmed-article:7977384 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:7977384 | pubmed:authorsComplete | N | lld:pubmed |
pubmed-article:7977384 | pubmed:pagination | 1230-41 | lld:pubmed |
pubmed-article:7977384 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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pubmed-article:7977384 | pubmed:meshHeading | pubmed-meshheading:7977384-... | lld:pubmed |
pubmed-article:7977384 | pubmed:year | 1994 | lld:pubmed |
pubmed-article:7977384 | pubmed:articleTitle | Analysis of HLA and disease susceptibility: chromosome 6 genes and sex influence long-QT phenotype. | lld:pubmed |
pubmed-article:7977384 | pubmed:affiliation | Division of Genetics, University of Rochester School of Medicine and Dentistry, NY 14642. | lld:pubmed |
pubmed-article:7977384 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:7977384 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
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