血红素加氧酶1基因多态性与新生儿高胆红素血症的相关性研究  

Association of Heme oxygenase-1 gene polymorphisms with neonatal hyperbilirubinemia

作　　者：余红辉 尹佃枝 吴蓓蓉[2] 姚泽忠[1] YU Hong-hui;YIN Dian-zhi;WU Pei-rong;YAO Ze-zhong(Pediatric Departments The Minhang Hospital of Fudan University,ShangHai 201199)

机构地区：[1]上海复旦大学附属闵行医院,上海201199 [2]上海交通大学附属儿童医院,上海200040

出　　处：《中国优生与遗传杂志》2019年第8期958-960,963,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨血红素氧合酶-1(Heme oxygenase-1,HO-1)启动子区域的g-413A>T单核苷酸多态性和二核苷酸(GT)n重复序列多态性与新生儿高胆红素血症(neonatalhyperbilirubinemia)的相关性。方法运用改良的多重高温连接酶检测反应技术(improved multiple ligase detection reaction,IMLDR)技术对60例高胆红素血症新生儿(病例组)和60例健康新生儿(对照组)的HO-1基因启动子g-413A>T单核苷酸多态性和二核苷酸(GT)n的重复序列多态位点进行分型。结果病例组和对照组在性别、出生体重、胎龄、日龄、分娩方式和喂养方式等方面的比较差异均无统计学意义(P>0.05)。与对照组比较,病例组HO-1基因启动子g-413A>T的等位基因以及基因型分布的差异没有统计学意义(P>0.05)。病例组与对照组HO-1基因的S等位基因频率及SS基因型频率分布的差异存在统计学意义(P<0.05)。本研究还发现与L等位基因以及LL基因型比较,S等位基因以及SS基因型可显著提高新生儿患高胆红素血症的风险。最后,本研究发现SS基因型患者的血清胆红素浓度明显高于LS和LL基因型患者。结论 HO-1基因启动子区域的(GT)n重复序列多态性与血清胆红素水平与高胆红素血症的发生发展密切相关。Abatract:Objective:To explore the association of Heme oxygenase-1(HO-1)genetic polymorphism with neonatal hyperbilirubinemia.Methods:A total of 120 newborns were recruited containing 60 newborns with neonatal hyperbilirubinemia(the patient group)and 60 healthy newborns(HC group)in the present study. Improved multiple ligase detection reaction(IMLDR)technology was used to detect the allele and genotype frequencies of g.-413A>T variant and(GT)n repeat in the promoter region of the HO-1 gene. Results:There were no significant differences of gender,birth weight,gestational age,day age,delivery mode and feeding mode between newborns with neonatal hyperbilirubinemia and HC group. Moreover,no significant differences of the the T allele frequency and TT genotype frequency of SNP g-413A>T in the promoter region of the HO-1 gene between the patients group and the control group. We found that there were statistically significant differences referring to the S allele frequency and the SS genotype frequency distribution of HO-1 gene between the case group and the control group. We further found that the S allele and the SS genotype could significantly increase the risk of neonatal hyperbilirubinemia compared with L alleles and LL genotypes. Finally,this study found that the concentrations of serum bilirubin in SS genotypes were significantly higher than those in LS and LL genotypes. Conclusion:(GT)n repeats polymorphism in the promoter region of HO-1 gene and the level of serum bilirubin are closely associated with the occurrence and development of neonatal hyperbilirubinemia.

关 键 词：血红素氧合酶-1 基因多态性 g-413A>T 二核苷酸(GT)n重复序列 新生儿高胆红素血症 

分 类 号：R722.1[医药卫生—儿科]