Open AccessAssociations of CYP2B6 genetic polymorphisms with Hirschsprung’s disease in a southern Chinese population
Author(s) -
Liu Yanqing,
Lan Chaoting,
Li Bingxiao,
Wang Ning,
Zuo Xiaoyu,
Huang Lihua,
Wu Yuxin,
Zhu Yun
Publication year - 2021
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.24074
Subject(s) - single nucleotide polymorphism , snp , hirschsprung's disease , genotyping , allele , genetics , taqman , snp genotyping , medicine , biology , genetic predisposition , disease , genotype , gene , real time polymerase chain reaction
Background Hirschsprung’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. Methods We 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. Results rs2054675 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. Conclusion We suggest that CYP2B6 rs2054675 and rs707265 polymorphisms are associated with increased susceptibility to the severe HSCR subtype in southern Chinese children.