miR-938rs2505901 T>C Polymorphism Increases Hirschsprung Disease Risk: A Case–Control Study of Chinese Children

Abstract

Aim: To explore the association between miR-938rs2505901 T>C polymorphism and Hirschsprung disease (HSCR) risk in Chinese children. Materials & Methods: We conducted a case–control study in a Chinese population with 1381 cases and 1457 controls. The associated correlation strengths were assessed by adjusted odds ratios (AORs) and 95% CIs. Results: The results revealed that the rs2505901 TC and rs2505901 TC/CC genotype were related to an increased HSCR risk compared to the risk contributed by the rs2505901 TT genotype. A stratification analysis showed that the rs2505901 TC/CC genotype promoted the progression of HSCR more significantly in patients with the short-segment HSCR subtype. Conclusion: Our study indicated that miR-938rs2505901 T>C polymorphism is significantly associated with HSCR risk in Chinese children. This result needs to be confirmed with well-designed studies.

Lay abstract

Hirschsprung disease (HSCR) is the most common intestinal disorder in infants. Genetic defects play important roles in the occurrence and development of HSCR. This case–control study was performed by collecting data from 1381 cases and 1457 controls to evaluate the association between the miR-938rs2505901 T>C genetic defect and HSCR risk. The results showed that allele rs2505901 C may be a risk factor. The rs2505901 TC or rs2505901 TC/CC genotype was related to an increased HSCR risk compared to the risk contributed by the rs2505901 TT genotype. An expression quantitative trait locus (eQTL) analysis indicated that allele rs2505901 C is linked with high levels of miR-938. Our study may provide a target and a valuable reference for the clinical treatment, classification and prognosis of HSCR.

Keywords::

• case–control study
• Chinese children
• correlation analysis
• genotype
• Hirschsprung disease
• miR-938
• polymorphism
• rs2505901
• susceptibility
• treatment and prognosis

Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.tandfonline.com/doi/suppl/10.2217/pme-2021-0001

Author contributions

Conception and design: Wei Zhong and Qiang Wu. Administrative support: Wei Zhong. Provision of study materials or patients: Jun Zhong, Yi Zheng, Xiaoli Xie, Qiuming He and Wei Zhong. Collection and assembly of data: Jun Zhong, Jiabin Liu and Qiang Wu. Data analysis and interpretation: Jun Zhong. Manuscript writing: All authors.

Financial & competing interests disclosure

This study was funded by grants from the Natural Science Foundation of Guangdong Province, China (no. 2019A1515010971), and Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease (no. 2019B030301004). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or any financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

English language editing was provided by American Journal Experts (AJE).

Ethical conduct of research

The study protocol was coincident with the ethical guidelines of the 1975 Declaration of Helsinki and authorized by the institutional review board of Guangzhou Women and Children’s Medical Center (ethics approval no. 201943800). Written informed consent was signed by the guardians of all participants.

Data availability

The data used to support the findings of this study are available upon request.

Additional information

Funding

This study was funded by grants from the Natural Science Foundation of Guangdong Province, China (no. 2019A1515010971), and Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease (no. 2019B030301004). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or any financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. English language editing was provided by American Journal Experts (AJE).