RGD Reference Report - Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort. - Rat Genome Database

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Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.

Authors: Lang, Jilu  Tian, Weichen  Sun, Xian 
Citation: Lang J, etal., Mol Diagn Ther. 2013 Apr;17(2):101-6. doi: 10.1007/s40291-013-0033-8.
RGD ID: 243048461
Pubmed: PMID:23572340   (View Abstract at PubMed)
DOI: DOI:10.1007/s40291-013-0033-8   (Journal Full-text)


AIM: It has previously been reported that ISLET1 (ISL1) plays a fundamental role in cardiac morphogenesis. This study investigated the possible association between variants in the ISL LIM homeobox 1 (ISL1) gene and congenital ventricular septal defect (VSD) in a Chinese cohort.
METHODS: A total of 512 congenital VSD patients and 612 unrelated age- and sex-matched healthy control subjects were enrolled in this study. Genotypes for three variants in ISL1 (rs3762977, IVS1+17C>T, and rs1017) were determined.
RESULTS: We found that the rs3762977 and IVS+17C>T variants were closely associated with the risk of developing VSD. Carriers of the GG genotype of rs3762977 and the TT genotype of IVS+17C>T were less likely to have VSD, whereas variants in rs1701 did not affect the VSD risk. The haplotypes rs3762977G-rs1017A-IVS+17T and rs3762977G-rs1017T-IVS+17T represented a protective effect against VSD. None of these ISL1 variants showed any association with VSD type according to defect location and VSD severity according to defect size.
CONCLUSION: These findings suggest that ISL1 genetic polymorphisms are associated with occurrence of VSD, thus they may be useful as molecular markers for prediction of VSD.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ISL1Humanventricular septal defect  IAGP DNA:polymorphisms: :rs3762977 and IVS1+17C(human)RGD 
Isl1Ratventricular septal defect  ISOISL1 (Homo sapiens)DNA:polymorphisms: :rs3762977 and IVS1+17C(human)RGD 
Isl1Mouseventricular septal defect  ISOISL1 (Homo sapiens)DNA:polymorphisms: :rs3762977 and IVS1+17C(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