Genetic Variants in RET and Hirschsprung's Disease Risk
Author Information
Author(s): Tou Jinfa, Wang Li, Liu Li, Wang Ying, Zhong Rong, Duan Shengyu, Liu Weiguang, Xiong Qixing, Gu Qinglong, Yang Hong, Li Hui
Primary Institution: Children's Hospital Zhejiang University School of Medicine
Hypothesis
The study examines the impact of haplotypes of RET gene SNPs on the risk of Hirschsprung's disease in a Southeastern Chinese population.
Conclusion
Common variations in the RET pathway play an important role in the development of Hirschsprung's disease.
Supporting Evidence
- The study included 123 HSCR patients and 168 controls.
- Significant associations were found between specific RET SNPs and HSCR risk.
- The haplotype A-C-A-G-G was associated with a 5.06-fold increased risk of HSCR.
Takeaway
This study found that certain genetic changes in a gene called RET can make people more likely to have Hirschsprung's disease, which affects the intestines.
Methodology
The study analyzed genotypes of five SNPs in 123 HSCR patients and 168 controls using PCR and direct sequencing.
Participant Demographics
Participants included 123 sporadic HSCR patients (75.6% male) and 168 controls (73.7% male), all Chinese Han.
Statistical Information
P-Value
1.12 × 10-16
Confidence Interval
95% CI = 7.34-42.92
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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