RGD Reference Report - Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. - Rat Genome Database

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Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Authors: Stevens, Kristen N  Hakonarson, Hakon  Kim, Cecilia E  Doevendans, Pieter A  Koeleman, Bobby P C  Mital, Seema  Raue, Jennifer  Glessner, Joseph T  Coles, John G  Moreno, Victor  Granger, Anne  Gruber, Stephen B  Gruber, Peter J 
Citation: Stevens KN, etal.
RGD ID: 243049242
Pubmed: PMID:20520780   (View Abstract at PubMed)
PMCID: PMC2877111   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0010855   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ISL1Humancongenital heart disease susceptibilityIAGP DNA:SNPs more ...RGD 
Isl1Ratcongenital heart disease susceptibilityISOISL1 (Homo sapiens)DNA:SNPs more ...RGD 
Isl1Mousecongenital heart disease susceptibilityISOISL1 (Homo sapiens)DNA:SNPs more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Isl1  (ISL LIM homeobox 1)

Genes (Mus musculus)
Isl1  (ISL1 transcription factor, LIM/homeodomain)

Genes (Homo sapiens)
ISL1  (ISL LIM homeobox 1)

Additional Information