[1]杜 晨,徐 征,高 宇,等.胆绿素还原酶A rs699512和肝细胞溶质载体有机阴离子转运蛋白家族成员1B1 rs4149015位点基因多态性与新生儿不明原因高胆红素血症易感性相关性研究[J].陕西医学杂志,2023,52(12):1744-1748.[doi:DOI:10.3969/j.issn.1000-7377.2023.12.026]
　DU Chen,XU Zheng,GAO Yu,et al.Correlation between BLVRA rs699512,SLCO1B1 rs4149015 gene polymorphisms and susceptibility to neonatal unexplained hyperbilirubinemia[J].,2023,52(12):1744-1748.[doi:DOI:10.3969/j.issn.1000-7377.2023.12.026]
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胆绿素还原酶A rs699512和肝细胞溶质载体有机阴离子转运蛋白家族成员1B1 rs4149015位点基因多态性与新生儿不明原因高胆红素血症易感性相关性研究
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
52
期数:
2023年12期
页码:
1744-1748
栏目:
临床检验
出版日期:
2023-12-05

文章信息/Info

Title:
Correlation between BLVRA rs699512,SLCO1B1 rs4149015 gene polymorphisms and susceptibility to neonatal unexplained hyperbilirubinemia
作者:
杜 晨1; 徐 征1; 高 宇1; 夏兰兰1; 李 烨2; 李 宁3
(1.首都医科大学附属北京儿童医院保定医院检验科,河北 保定 071000; 2.陆军第八十二集团军医院检验科,河北 保定 071000; 3.首都医科大学附属北京儿童医院保定医院新生儿科,河北 保定 071000)
Author(s):
DU Chen; XU Zheng; GAO Yu; XIA Lanlan; LI Ye; LI Ning
(Department of Clinical Laboratory,Baoding Hospital,Beijing Children's Hospital Affiliated to Capital Medical University,Baoding 071000,China)
关键词:
高胆红素血症;  胆绿素还原酶A rs699512位点;  肝细胞溶质载体有机阴离子转运蛋白家族成员1B1 rs4149015位点;  基因型分布;  等位基因;  相关性;  新生儿
Keywords:
Hyperbilirubinemia;  BLVRArs 699512;  SLCO1B1 rs4149015;  Genotype distribution;  Allele;  Correlation;  Neonates
分类号:
R 722.17
DOI:
DOI:10.3969/j.issn.1000-7377.2023.12.026
文献标志码:
A
摘要:
目的:分析胆绿素还原酶A(BLVRA)rs699512和肝细胞溶质载体有机阴离子转运蛋白家族成员1B1(SLCO1B1)rs4149015位点基因多态性与新生儿不明原因高胆红素血症(HB)易感性的相关性。方法:选取不明原因HB新生儿90例为HB组,另选取同期健康新生儿90例为对照组。比较两组临床资料以及BLVRA rs699512、SLCO1B1 rs4149015位点基因型分布和等位基因频率。比较不同BLVRA rs699512、BLVRA rs699512基因型患儿血清胆红素水平。分析BLVRA rs699512、SLCO1B1 rs4149015位点基因多态性与HB易感性的关系。结果:HB组患儿总胆红素和结合胆红素水平明显高于对照组(均P<0.05)。两组BLVRA rs699512、SLCO1B1 rs4149015位点基因型分布比较差异有统计学意义(均P<0.05)。HB组患儿BLVRA rs699512位点GG基因型分布高于对照组,AA基因型分布低于对照组,G等位基因频率高于对照组(均P<0.05)。HB组患儿SLCO1B1 rs4149015位点AA基因型分布高于对照组,GG基因型分布低于对照组,A等位基因频率高于对照组(均P<0.05)。BLVRA rs699512中GG基因型总胆红素和结合胆红素水平高于AA基因型(均P<0.05)。SLCO1B1 rs4149015中AA基因型总胆红素和结合胆红素水平均高于GG基因型(均P<0.05)。BLVRA rs699512位点GG基因型与HB发生呈正相关,AA基因型与HB发生呈负相关(r=0.671、-0.608,均P<0.05)。SLCO1B1 rs4149015位点AA基因型与HB发生呈正相关,GG基因型与HB发生呈负相关(r=0.695、-0.633,均P<0.05)。结论:不明原因HB 新生儿BLVRA rs699512位点GG基因型与SLCO1B1 rs4149015位点AA基因型会增加易感性,临床可建立早期防治体系以改善患儿预后。
Abstract:
Objective:To analyze the association between bilivirin reductase A(BLVRA)rs699512,solute carrier organic anion transporter family member 1B1(SLCO1B1)rs4149015 gene polymorphisms and susceptibility to neonatal unexplained hyperbilirubinemia(HB).Methods:A total of 90 neonates with unexplained HB were enrolled as the HB group,and 90 healthy neonates were enrolled as the control group.The clinical data,genotype distribution and allele frequency of BLVRA rs699512 and SLCO1B1 rs4149015 were compared between the two groups.The serum bilirubin levels of children with different BLVRA rs699512 and BLVRA rs699512 genotypes were compared.The relationship between BLVRA rs699512,SLCO1B1 rs4149015 gene polymorphisms and the susceptibility to HB was analyzed.Results:The HB group had significantly higher levels of total bilirubin and conjugated bilirubin than the control group(all P<0.05).There were significant differences in the genotype distribution of BLVRA rs699512 and SLCO1B1 rs4149015 between the two groups(all P<0.05).The HB group had a significantly higher distribution of GG genotype,a significantly lower distribution of AA genotype,and a significantly higher frequency of G allele in BLVRA rs699512 than the control group(all P<0.05).Compared with the control group,the HB group had a significantly higher distribution of AA genotype,a significantly lower distribution of GG genotype,and a significantly higher frequency of allele in SLCO1B1 rs4149015(all P<0.05).In BLVRA rs699512,the GG genotype had higher total bilirubin and conjugated bilirubin levels than the AA genotype(all P<0.05).In SLCO1B1 rs4149015,the AA genotype had higher total bilirubin and conjugated bilirubin levels than the GG genotype(all P<0.05).The GG genotype in BLVRA rs699512 was positively correlated with the occurrence of HB,and the AA genotype was negatively correlated with the occurrence of HB(r=0.671,-0.608,all P<0.05).The AA genotype in SLCO1B1 rs4149015 was positively correlated with the occurrence of HB,and the GG genotype was negatively correlated with the occurrence of HB(r=0.695,-0.633,all P<0.05).Conclusion:In neonates with unexplained HB,the GG genotype in BLVRA rs699512 and the AA genotype in SLCO1B1 rs4149015 may increase the susceptibility to HB.An early prevention and treatment system can be established to improve the prognosis of these infants.

参考文献/References:

[1] 杜丽君,王丽娟,罗菲菲.高胆红素血症足月新生儿血清AST、LDH、CysC及β2-MG水平及其与病情严重程度的相关性分析[J].标记免疫分析与临床,2019,26(7):1196-1199.
[2] 唐 炜,卢红艳,孙 勤,等.高胆红素血症新生儿肠道菌群特点及与β-葡萄糖醛酸苷酶活性的相关性[J].中国当代儿科杂志,2021,23(7):677-683.
[3] Horn D,Ehret D,Gautham KS,et al.Sunlight for the prevention and treatment of hyperbilirubinemia in term and late preterm neonates[J].Cochrane Database Syst Rev,2021,7(7):cd013277.
[4] Atasilp C,Kanjanapipak J,Vichayaprasertkul J,et al.Associations between UGT1A1 and SLCO1B1 polymorphisms and susceptibility to neonatal hyperbilirubinemia in Thai population[J].BMC Pediatr,2022,22(1):243.
[5] Olusanya BO,Kaplan M,Hansen TWR.Neonatal hyperbilirubinaemia:A global perspective[J].Lancet Child Adolesc Health,2018,2(8):610-620.
[6] 江载芳,申昆玲,沈 颖.诸福棠实用儿科学[M].8版.北京:人民卫生出版社,2015:47.
[7] Alkén J,Håkansson S,Ekéus C,et al.Rates of extreme neonatal hyperbilirubinemia and kernicterus in children and adherence to national guidelines for screening,diagnosis,and treatment in Sweden[J].JAMA Netw Open,2019,2(3):e190858.
[8] 余 倩,郭金珍.儿童广泛性发育障碍影响因素及其与新生儿高胆红素血症相关性分析[J].陕西医学杂志,2021,50(9):1090-1093.
[9] 雷瑞瑞,周栩平,王新华,等.基于PLC/IP3通路探讨岩黄连对新生儿高胆红素血症大鼠听觉系统损伤的影响[J].中草药,2021,52(12):3649-3655.
[10] 刘国文,李 炎.循环式单面光疗与间断式单面光疗治疗葡萄糖-6-磷酸脱氢酶缺乏所致新生儿高胆红素血症临床疗效对比分析[J].陕西医学杂志,2020,49(9):1110-1113.
[11] 刘 玲,蒋榆辉,聂潘荣,等.中国西南地区新生儿高胆红素血症基因多态性研究[J].临床儿科杂志,2022,40(9):672-678.
[12] 赵 娟,李朝友,吴银弟,等.茵栀黄颗粒联合蓝光治疗黄疸疗效及对新生儿肝功能、胆红素、脑功能的影响[J].陕西中医,2021,42(8):1092-1095.
[13] 杨静丽,王建辉.2022版美国儿科学会新生儿高胆红素血症管理指南解读[J].中国当代儿科杂志,2023,25(1):11-17.
[14] Hegyi T,Kleinfeld A.Neonatal hyperbilirubinemia and the role of unbound bilirubin[J].J Matern Fetal Neonatal Med,2022,35(25):9201-9207.
[15] 赖苑双,黎维丹,胡向国,等.高胆红素血症新生儿血红蛋白A、F与G-6-PD表达的相关性[J].暨南大学学报:自然科学与医学版,2019,40(5):411-418.
[16] 邓玉婷,魏民华,周俊英.Gilbert综合征研究进展[J].实用肝脏病杂志,2021,24(2):156-159.
[17] Chau AS,Cole BL,Debley JS,et al.Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares[J].Pediatr Rheumatol Online J,2020,18(1):80.
[18] 周进福,朱文斌,杨长仪,等.胆绿素还原酶A基因多态性与福建地区新生儿高胆红素血症的相关性[J].中华实用儿科临床杂志,2018,33(2):108-112.
[19] He CH,Qu Y.Research advances in neonatal hyperbilirubinemia and gene polymorphisms[J].Zhongguo Dang Dai Er Ke Za Zhi,2020,22(3):280-284.
[20] 张钰恒,刘春枝,胡亚楠,等.新生儿高胆红素血症与有机阴离子转运多肽1B1基因T521C的关系[J].国际儿科学杂志,2018,45(6):488-490.
[21] Amandito R,Rohsiswatmo R,Halim M,et al.SLCO1B1 c.388A>G variant incidence and the severity of hyperbilirubinemia in Indonesian neonates[J].BMC Pediatr,2019,19(1):212.
[22] Boo NY,Sin S,Chee SC,et al.Genetic factors and delayed TSB monitoring and treatment as risk factors associated with severe hyperbilirubinemia in term neonates admitted for phototherapy[J].J Trop Pediatr,2020,66(6):569-582.

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备注/Memo

备注/Memo:
基金项目:河北省保定市科技计划项目(2241ZF359)
更新日期/Last Update: 2023-12-05