miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children

Abstract

MicroRNAs (miRNAs) are endogenous non-coding small RNAs that play an important role in the development of many malignant tumors. In addition, recent studies have reported that single nucleotide polymorphisms (SNPs) located in the miRNA functional region was inextricably linked to tumor susceptibility. In the present study, we investigated the susceptibility between miR-618 rs2682818 C>A and Hirschsprung disease (HSCR) in the Southern Chinese population (1470 patients and 1473 controls). Odds ratios (ORs) and 95% confidence intervals (CIs) were used for estimating the strength of interrelation between them. We found that the CA/AA genotypes of miR-618 rs2682818 were associated with a decreased risk of HSCR when compared with the CC genotype (OR = 0.84, 95% CI = 0.72–0.99, P=0.032). Based on the stratified analysis of HSCR subtypes, the rs2682818 CA/AA genotypes were able to significantly lessen the risk of HSCR compared with CC genotype in patients with long-segment HSCR (adjusted OR = 0.70, 95% CI = 0.52–0.93, P=0.013). In conclusion, our results indicated that the miR-618 rs2682818 C>A polymorphism was associated with a reduced risk of HSCR in Chinese children, especially in patients with long-segment HSCR (L-HSCR) subtype.

Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children

“…Similar as previous studies ( 32 ) which EDNRB and EDN3 lead to L-HSCR as well as syndromic HSCR, we fail to explain the susceptibility for S-HSCR, which is the most common subtype in HSCR. So far, the genes responsible for the L-HSCR include SLC6A20 ( 33 ) and miR-618 ( 34 ). Genetic models of different genes leading to different HSCR subtypes still need to be elucidated.…”

Associations of CYP2B6 genetic polymorphisms with Hirschsprung’s disease in a southern Chinese population

“…Subsequently, CYP2B6 SNPs were genotyped using the TaqMan SNP Genotyping Assay on an ABI‐7900 real‐time quantitative PCR instrument (Applied Biosystem). 16 Three replicates were performed for each sample.…”

Polymorphism rs2682818 participates in the progression of colorectal carcinoma via miR-618-TIMP1 regulatory axis

“…Recent studies have found that the abnormal expression of miR-618 is related to tumorigenesis 19 – 21 . Rs2682818 polymorphism is located on the precursor’s stem-loop of the miR-618 sequence and several studies have demonstrated that rs2682818 is associated with diseases susceptibility, including ischemic stroke and hirschsprung disease 22 , 23 . In addition, a few studies also believe that rs2682818 is related to cancer susceptibility, including colorectal cancer and breast cancer 24 , 25 .…”