<p><em>miR-100</em> rs1834306 A>G Increases the Risk of Hirschsprung Disease in Southern Chinese Children</p>

Abstract

Background: Hirschsprung disease (HSCR) is a rare congenital gastrointestinal disease characterized by the absence of intestinal submucosal and myometrial ganglion cells. Recently, researches indicated that miR-100 regulated the growth, differentiation and apoptosis of neurons, and affected the functions of HSCR-associated pathways. While miR-100 rs1834306 A>G polymorphism was shown to modify the susceptibility to tumors, the association between this polymorphism and HSCR susceptibility is still unknown. Methods: This was a case-control study consisting of 1470 HSCR cases and 1473 controls from southern China. DNA was genotyped by TaqMan real-time PCR. Odds ratios (ORs) and 95% confidence intervals (CIs) were used as statistical indicators. Results: We found that miR-100 rs1834306 G allele and GG genotype significantly increased HSCR susceptibility (GG vs AA: adjusted OR=1.31, 95% CI=1.04-1.64, P=0.020; G vs A: adjusted OR=1.12, 95% CI=1.01-1.25, P=0.041; GG vs AA/AG: adjusted OR=1.30, 95% CI=1.07-1.59, P=0.010). In the stratified analysis, miR-100 rs1834306 GG genotype carriers had higher risk to develop HSCR in all clinical subtypes when compared with those with AA/AG genotypes, and OR was rising with HSCR aggravation (SHSCR: adjusted OR=1.28, 95% CI=1.03-1.59, P=0.029; LHSCR: adjusted OR=1.48, 95% CI=1.06-2.07, P=0.020; TCA: adjusted OR=2.12, 95% CI=1.22-3.69, P=0.008). Conclusion: Our findings suggested that miR-100 rs1834306 A>G polymorphism was associated with increased HSCR susceptibility in southern Chinese children. Furthermore, miR-100 rs1834306 GG genotype had a greater genetic pathopoiesis in severe HSCR.

MiR-100 rs1834306 A>G Increases Biliary Atresia Risk in Southern Han Chinese Children

“…miR-100 rs1834306 was recently reported to be associated with a diminished risk for esophageal squamous epithelial cell cancer in northwestern Chinese Kazakh patients [ 40 ]. Furthermore, Zhu et al [ 41 ] reported that miR-100 rs1834306 A>G may decrease the risk for congenital Hirschsprung disease in a Chinese pediatric population.…”

miR‐100 rs1834306 a > G polymorphism decreases neuroblastoma risk in Chinese children

“…Later on, Chang et al 47 found that the rs1834306 may be involved in the increased risk of endometriosis. Zhu et al 48 reported that the miR‐100 rs1834306 A > G polymorphism is associated with enhanced risk of Hirschsprung disease in children in southern China. Recently, Chang et al 49 discovered that the miR‐100 rs1834306 A > G polymorphism might also increase predisposition to biliary atresia in Chinese children.…”

Genetic Variants of MicroRNA and DROSHA Genes in Association With the Risk of Tuberculosis in the Amazon Population

“…Studies have shown that miRNA-100 is associated with the adaptive immune system (Negi et al, 2015), anti-inflammatory function in the vascular system (Pankratz et al, 2018), and the occurrence, development, and cancer invasion (Liu et al, 2012;Huang et al, 2020). Genetic variation in miRNA-100 rs1834306 was found to be an increased risk of gastrointestinal disease (Zhu et al, 2020), increased risk of Hepatitis B virus (Motawi et al, 2019, 1834306), and a decreased risk for esophageal squamous cell carcinoma (Zhu et al, 2015) in several studies. Li et al (2011) reported that there was no association between miR-499 rs3746444 and pulmonary tuberculosis (PTB) risk in the Han population; however, subjects carrying the C allele showed a decreased PTB risk.…”