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Title: Common variation in ISL1 confers genetic susceptibility for human congenital heart disease
Author: Stevens, K.N.
Hakonarson, H.
Kim, C.E.
Doevendans, P.A.
Koeleman, Bobby P. C.
Mital, S.
Raue, J.
Glessner, J.T.
Coles, J.G.
Moreno Aguado, Víctor
Granger, A.
Gruber, S.B.
Gruber, PJ.
Keywords: Malalties coronàries
Estudi de casos
Malformacions del cor
Coronary diseases
Case studies
Heart abnormalities
Issue Date: 2010
Publisher: Public Library of Science (PLoS)
Abstract: Congenital heart disease (CHD) is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.
Note: Reproducció del document publicat a:
It is part of: PLoS One, 2010, vol. 5, num. 5, p. e10855
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Ciències Clíniques)

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