ArticleMolecular diagnosis & therapy2013
Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.
Article in Molecular diagnosis & therapy, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Correlations between ISL1 rs1017 polymorphism and congenital heart disease risk: A PRISMA-compliant meta-analysis.Medicine · 2020Pooled it
- Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs).BMC pediatrics · 2023Article
- Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population.Italian journal of pediatrics · 2022Article
- Pioneering function of Isl1 in the epigenetic control of cardiomyocyte cell fate.Cell research · 2019Article
- Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular Septal Defect (VSD).PloS one · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimIt 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.
methodsA 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.
resultsWe 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.
conclusionThese findings suggest that ISL1 genetic polymorphisms are associated with occurrence of VSD, thus they may be useful as molecular markers for prediction of VSD.
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