BLVRA基因rs699512和SLCO1B1基因rs4149015位点多态性与新生儿不明原因性高胆红素血症的关联性研究  

Interaction and significance of BLVRA rs699512 and SLCO1B1 rs4149015 gene polymorphisms in neonatal HB of unknown origin

作　　者：徐征[1] 杜晨 高宇 夏兰兰[1] 李烨 李宁[3] XU Zheng;DU Chen;GAO Yu;XIA Lanlan;LI Ye;LI Ning(Laboratory Department,Baoding Children’s Hospital,Baoding,Hebei 071000,China;Laboratory Department,the PLA Army 82nd Group Army Hospital,Baoding,Hebei 071000,China;Neonatal Department,Baoding Children’s Hospital,Baoding,Hebei 071000,China)

机构地区：[1]保定市儿童医院检验科,河北保定071000 [2]中国人民解放军陆军第八十二集团军医院检验科,河北保定071000 [3]保定市儿童医院新生儿科,河北保定071000

出　　处：《中国优生与遗传杂志》2023年第2期313-318,共6页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨胆绿素还原酶A(BLVRA)rs699512与肝细胞溶质载体有机阴离子转运蛋白家族成员1B1(SLCO1B1)rs4149015位点基因多态性在新生儿不明原因高胆红素血症(HB)中的关联性。方法选取保定市儿童医院2019年2月至2022年2月新生儿不明原因HB患儿106例作为HB组,另选取同期健康新生儿106例作为健康组,检测并比较两组BLVRArs699512、SLCO1B1rs4149015位点基因多态性,对比不同基因型患儿血清总胆红素水平,分析两者基因多态性与新生儿不明原因HB易感性的关系及交互作用。结果BLVRA rs699512、SLCO1B1 rs4149015位点存在多态性,基因型分布符合Hardy-Weinberg遗传平衡定律检验,具有人群代表性;HB组与健康组BLVRA rs699512、SLCO1B1 rs4149015位点基因型分布差异有统计学意义,HB组BLVRA rs699512位点、SLCO1B1 rs4149015位点携带等位基因A频率高于健康组(P<0.05);HB组BLVRA rs699512位点基因型AA患儿血清总胆红素水平>基因型AG患儿>基因型GG患儿,SLCO1B1rs4149015位点基因型AA患儿血清总胆红素水平>基因型GA患儿>基因型GG患儿(P<0.05);Logistic回归分析,BLVRArs699512、SLCO1B1rs4149015位点基因型AA(OR=5.273、6.229;95%CI:1.714~16.221、1.936~20.041)、携带等位基因A(OR=4.377、5.550;95%CI:1.358~14.108、1.778~17.324)是新生儿不明原因HB的独立危险因素(P<0.05);BLVRA rs699512位点基因型AA与SLCO1B1 rs4149015位点基因型AA在新生儿不明原因HB中呈正向交互作用,OR为23.344,γ为1.654,为次相乘模型。结论新生儿不明原因HB患儿BLVRA rs699512位点基因型AA与SLCO1B1 rs4149015位点基因型AA具有正向交互作用,两者同时存在会显著增加易感性,可根据此建立早期防治体系。Objective To investigate the association between biliverdin reductase A(BLVRA)rs699512 and hepatocyte solute carrier organic anion transport protein family member 1B1(SLCO1B1)rs4149015 locus gene polymorphism in neonates with unexplained hyperbilirubinemia(HB).Methods A total of 106 newborn children with unexplained HB from February 2019 from Baoding Children’s Hospital to February 2022 were selected as the HB group,and 106 healthy neonates during the same period were selected as the healthy group.BLVRA rs699512 and SLCO1B1 rs4149015 loci were detected and compared between the two groups.Gene polymorphism,compared the serum total bilirubin levels in children with different genotypes,and analyzed the relationship and interaction between the two gene polymorphisms and the susceptibility of unexplained HB in newborns.Results There were polymorphisms in BLVRA rs699512 and SLCO1B1 rs4149015 loci,and the genotype distribution was in line with the Hardy-Weinberg genetic equilibrium test,which was representative of the population.There were statistically significant differences in the genotype distribution of BLVRA rs699512 and SLCO1B1 rs4149015 loci between the HB group and the healthy group,the frequency of BLVRA rs699512 locus and SLCO1B1 rs4149015 locus carrying allele A in the HB group was higher than that in the healthy group(P<0.05).In the HB group,the serum total bilirubin level of children with BLVRA rs699512 genotype AA>genotype AG children>genotype GG children,and the serum total bilirubin level of SLCO1B1 rs4149015 genotype AA children>genotype GA children>genotype GG children(P<0.05).Logistic regression analysis showed that BLVRA rs699512,SLCO1B1 rs4149015 genotype AA(OR=5.273,6.229;95%CI:1.714-16.221,1.936-20.041),carrying allele A(OR=4.377,5.550;95%CI:1.358-14.108,1.778-17.324),and allele A were independent risk factors for unexplained HB in newborns(P<0.05).BLVRA rs699512 genotype AA and SLCO1B1 rs4149015 genotype AA had a positive interaction in neonatal unexplained HB,OR was 23.344 and γ was 1.654,wh

关 键 词：新生儿不明原因高胆红素血症 胆绿素还原酶A 肝细胞溶质载体有机阴离子转运蛋白家族成员1B1 基因多态性 交互作用 

分 类 号：R722.17[医药卫生—儿科]