Purpose: The aim of this study was to evaluate the association of three single nucleotide polymorphisms (SNPs, rs11712066 and rs573872 near MBNL1, rs29784 near NKX2-5) with infantile hypertrophic pyloric stenosis (IHPS) in Chinese Han population. Methods: A total of 47 family trios consisting of infants with IHPS and their healthy biological parents were recruited for this study. Genotypes were determined using direct sequencing. Transmission disequilibrium test (TDT) was performed for family-based association analysis. Results: Genotypic distributions of three SNPs in both groups (patients and proband’s parents) were in conformity with Hardy-Weinberg equilibrium (P > 0.05). There were significant preferential transmission of A allele of rs29784 from the parents to affected offspring (TDT: x2 = 5.444, P = 0.0196). However, other two polymorphism loci (rs11712066 and rs573872) were not significant susceptibility loci for IHPS in Chinese Han population. Conclusions: We found that there was a significant association between rs29784 and IHPS.
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