RGD Reference Report - Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people. - Rat Genome Database

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Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people.

Authors: Luo, Z L  Sun, H  Yang, Z Q  Ma, Y H  Gu, Y  He, Y Q  Wei, D  Xia, L B  Yang, B H  Guo, T 
Citation: Luo ZL, etal., Genet Mol Res. 2014 Feb 28;13(1):1329-38. doi: 10.4238/2014.February.28.5.
RGD ID: 243049248
Pubmed: PMID:24634231   (View Abstract at PubMed)
DOI: DOI:10.4238/2014.February.28.5   (Journal Full-text)

Congenital heart disease (CHD) is the most common birth abnormality, but the etiology of CHD is unknown. ISL1 may play a fundamental role in cardiac morphogenesis, and mutations of this gene could cause CHD. To evaluate whether genetic variations of ISL1 are associated with CHD in Chinese Han people, polymerase chain reaction restriction fragment-length polymorphism and SNaPshot were used to examine 9 polymorphisms of ISL1 in 233 patients with CHD as well as 288 healthy controls. We found that one SNP (rs1017) in ISL1 was significantly associated with simple CHD. Genetic variation of ISL1 was confirmed to be associated with the risk of CHD. ISL1 is related to the atrial septal defect group and the ventricular septal defect group, and the genotypes were associated with the occurrence of CHD in the dominant mode of inheritance. We concluded that rs1017 contributed to the risk of CHD in Chinese Han people, and ISL1 may be involved in the formation and development of the heart.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ISL1Humanatrial heart septal defect susceptibilityIAGP DNA:SNP: :rs1017(human)RGD 
Isl1Ratatrial heart septal defect susceptibilityISOISL1 (Homo sapiens)DNA:SNP: :rs1017(human)RGD 
Isl1Mouseatrial heart septal defect susceptibilityISOISL1 (Homo sapiens)DNA:SNP: :rs1017(human)RGD 
ISL1Humanventricular septal defect susceptibilityIAGP DNA:SNP: :rs1017(human)RGD 
Isl1Ratventricular septal defect susceptibilityISOISL1 (Homo sapiens)DNA:SNP: :rs1017(human)RGD 
Isl1Mouseventricular septal defect susceptibilityISOISL1 (Homo sapiens)DNA:SNP: :rs1017(human)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