Aim: Conotruncal heart defects (CTDs) are the most common form of congenital heart disease. We investigated the association of these two single-nucleotide polymorphisms (SNPs) in the promoter of miR-143/145 (rs353292 and rs4705343) with the susceptibility to CTDs in a Chinese population. Materials & methods: Two SNPs in the promoter of miR-143/145 (rs353292 and rs4705343) have been examined by PCR-RFLP methodology for 259 CTDs patients and 303 control subjects. Results: An association between SNP rs4705343 of miR-143/145 and CTDs has been confirmed in the Chinese Han population. Conclusion: Our results indicated that SNP rs4705343 in miR-143/145 is a potential genetic marker for CTDs in the Chinese Han population.
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