Associations of CYP2B6 genetic polymorphisms with Hirschsprung’s disease in a southern Chinese population |
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| Authors: | Yanqing Liu Chaoting Lan Bingxiao Li Ning Wang Xiaoyu Zuo Lihua Huang Yuxin Wu Yun Zhu |
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| Institution: | 1. Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou China ; 2. The First Affiliated Hospital of Jinan University, Guangzhou China ; 3. Guangzhou Medical University, Guangzhou China |
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| Abstract: | BackgroundHirschsprung’s disease (HSCR) is an enteric nervous system birth defect partially caused by a genetic disorder. Single‐nucleotide polymorphisms (SNPs) of the cytochrome P450 family 2 subfamily B member 6 (CYP2B6) gene are reported to be associated with HSCR.MethodsWe evaluated the association of rs2054675, rs707265, and rs1042389 with HSCR susceptibility in southern Chinese children including 1470 HSCR patients and 1473 controls using the TaqMan SNP Genotyping Assay.Resultsrs2054675 C allele and the rs707265 G allele were risk SNPs for total colonic aganglionosis (OR = 1.82, 95% CI 1.29 ~ 2.55, P_adj < 0.001 and OR = 0.68, 95% CI 0.48 ~ 0.97, P_adj = 0.034). These results suggested that CYP2B6 rs2054675 and rs707265 polymorphisms were associated with increased susceptibility to the severe HSCR subtype in southern Chinese children.ConclusionWe suggest that CYP2B6 rs2054675 and rs707265 polymorphisms are associated with increased susceptibility to the severe HSCR subtype in southern Chinese children. |
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| Keywords: | CYP2B6 cytochrome P450 family 2 subfamily B member 6 Hirschsprung''s disease HSCR single‐ nucleotide polymorphism |
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