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ISL1 promotes cardiomyocyte differentiation and plays important roles in heart development. However, whether ISL1 rs1017 polymorphism is associated with the congenital heart disease (CHD) risk remains controversial. Five database including PubMed, Cochrane Library, ISI Web of Science, CNKI, and Wan Fang were searched by using key words "Insulin Gene Enhancer Protein ISL1" and "Single Nucleotide Polymorphism," and "Congenital Heart Disease." Five relative articles including 6 independent studies containing 2132 cases and 3812 controls were finally recruited to our study. Meta-analyses were performed by pooling odds ratios (ORs) and 95% confidence interval (CI) from included studies using STATA 12.0 software. The associations between ISL1 rs1017 polymorphism and the risk of CHD were statistically significant under the allele model (T vs A; OR: 1.421; 95% CI: 1.072-1.882), heterozygous model (AT vs AA; OR: 1.342; 95% CI: 1.019-1.767), and dominant model (AT+ TT vs AA; OR: 1.466; 95% CI: 1.059-2.028). Sensitivity analysis indicated that the results were not stable. Subgroup analysis demonstrated that associations were found in Caucasians under the allele model and the heterozygous model (P < .05), but not the dominant model (P > .05). In summary, our meta-analysis results suggest that the T allele of ISL1 rs1017 is a risk factor for CHD. However, further studies based on large sample size and multi-ethnic population should be conducted to further prove this correlation.


Zhaohong Ding, Wenke Yang, Kang Yi, Yunhan Ding, Dan Zhou, Xiaodong Xie, Tao You. Correlations between ISL1 rs1017 polymorphism and congenital heart disease risk: A PRISMA-compliant meta-analysis. Medicine. 2020 Jan;99(2):e18715

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PMID: 31914083

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