Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
The First Affiliated Hospital of Jinan University, Guangzhou, China.
J Clin Lab Anal. 2021 Dec;35(12):e24074. doi: 10.1002/jcla.24074. Epub 2021 Nov 9.
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.
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.
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.
We suggest that CYP2B6 rs2054675 and rs707265 polymorphisms are associated with increased susceptibility to the severe HSCR subtype in southern Chinese children.
先天性巨结肠（HSCR）是一种肠神经系统出生缺陷，部分由遗传疾病引起。细胞色素 P450 家族 2 亚家族 B 成员 6（CYP2B6）基因的单核苷酸多态性（SNP）与 HSCR 有关。
我们使用 TaqMan SNP 基因分型检测评估了 rs2054675、rs707265 和 rs1042389 与包括 1470 例 HSCR 患者和 1473 例对照在内的中国南方儿童 HSCR 易感性的相关性。
rs2054675 C 等位基因和 rs707265 G 等位基因是全结肠无神经节细胞症的风险 SNP（OR = 1.82，95%CI 1.292.55，P_adj < 0.001 和 OR = 0.68，95%CI 0.480.97，P_adj = 0.034）。这些结果表明 CYP2B6 rs2054675 和 rs707265 多态性与中国南方儿童严重 HSCR 亚型易感性增加有关。
我们认为 CYP2B6 rs2054675 和 rs707265 多态性与中国南方儿童严重 HSCR 亚型易感性增加有关。
