Association analysis of NOX5 polymorphisms with Hirschsprung disease
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In brief
In brief
Replication study of 187 HSCR patients identifies six NOX5 gene variants significantly associated with Hirschsprung disease risk, with strongest association at rs62010828. Subgroup analysis reveals distinct genetic patterns for long-segment HSCR and TCA subtypes, supporting NOX5 as a candidate susceptibility gene.
Written by the GCMD Library team from the article.
Background/Purpose
Hirschsprung disease (HSCR) is a developmental disease characterized by the absence of ganglion cells in the intestinal region. NADPH oxidase5 (NOX5) has been identified as one of the possible candidate genes for risk of Hirschsprung disease in our recent genome wide association study (GWAS). In this study, we performed a replication study to analyze the association of NOX5 polymorphisms with HSCR risk and conducted an extended analysis to investigate further associations for sub-groups and haplotypes.
Methods
A total of 23 NOX5 single nucleotide polymorphisms (SNPs) were genotyped in 187 HSCR patients and 283 unaffected controls. Statistical analysis was performed to examine the effects of genotype on risk of HSCR and HSCR subtype.
Results
Logistic regression analyses revealed that six SNPs (rs59355559, rs62010828, rs34990910, rs11856030, rs311905, and rs8024894) were associated with risk of HSCR (minimum p = 0.007 at rs62010828). Moreover, three SNPs (rs59355559, rs62010828, and rs8024894) were significantly associated with risk of long-segment HSCR (L-HSCR) subtype and 5 SNPs (rs59355559, rs62010828, rs34990910, rs11856030, and rs8024894) were found to be associated with risk of TCA subtype.
Conclusion
Our results demonstrate that genetic variants in NOX5 have genetic effects on risk of HSCR, which may serve as useful preliminary information for further study.
Levels of Evidence
Level III of prognosis study.