Associations between Common Genetic Variants in MicroRNAs and Hirschsprung disease Susceptibility in Southern Chinese Children.

INTRODUCTION Hirschsprung disease (HSCR), characterized by the defective migration of enteric neural crest cells, is a severe congenital tract disease in infants. Its etiology is not clear at present, but the genetic component plays an important role in its etiology. Many studies on the polymorphisms of microRNA (miRNA) in several disease progressions have been reported, which included HSCR. However, the findings remain inconclusive. The present study aimed to explore the association of genetic variants in miRNAs and HSCR susceptibility in Southern Chinese children. METHODS Five SNPs (miR-146A rs2910164, miR-4318 rs8096901, miR-3142 rs2431697, miR-3142 rs2431097, and miR-3142 rs5705329) were included to be genotyped in the stratified analysis through the Mass ARRAY iPLEX Gold system (Sequenom) on all the samples, including 1,470 cases and 1,473 controls. After quality control, the minor allele frequency was compared in cases and controls to analyze the association between SNPs and HSCR by using PLINK 1.9 and multiple heritability models were tested (additive, recessive and dominant models). RESULTS Our results indicated that miR-4318 rs8096901 polymorphisms were associated with HSCR susceptibility in Southern Chinese children, especially in short-segment HSCR (S-HSCR) patients after stratified analysis. CONCLUSION In summary, we reported miR-4318 rs8096901 was associated with HSCR, especially in SHSCR patients.