Common genetic variants in GAL,GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease |
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Authors: | Yang Wang Weihui Yan Jun Wang Ying Zhou Jie Chen Beilin Gu Wei Cai |
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Affiliation: | 1. Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China;2. Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China;3. Shanghai Institute for Pediatric Research, Shanghai, China |
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Abstract: | Hirschsprung disease (HSCR) is a severe multifactorial genetic disorder. Microarray studies indicated GAL, GAP43 and NRSN1 might contribute to the altered risk in HSCR. Thus, we focused on genetic variations in GAL, GAP43 and NRSN1, and the gene‐gene interactions involved in HSCR susceptibility. We recruited a strategy combining case‐control study and MassArray system with interaction network analysis. For GAL, GAP43 and NRSN1, a total of 18 polymorphisms were assessed in 104 subjects with sporadic HSCR and 151 controls of Han Chinese origin. We found statistically significant differences between HSCR and control groups at 5 genetic variants. For each gene, the haplotypes combining all polymorphisms were the most significant. Based on SNPsyn, MDR and GeneMANIA analyses, we observed significant gene‐gene interactions among GAL, GAP43, NRSN1 and our previous identified RELN, GABRG2 and PTCH1. Our study for the first time indicates that genetic variants within GAL, GAP43 and NRSN1 and related gene‐gene interaction networks might be involved in the altered susceptibility to HSCR in the Han Chinese population, which might shed more light on HSCR pathogenesis. |
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Keywords: |
GAL
GAP43
Han Chinese Hirschsprung disease interaction networks MassArray
NRSN1
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