Volume 21 Issue 9
Sep.  2023
Turn off MathJax
Article Contents
Article Navigation >  Chinese Journal of General Practice  > 2023  >  21(9): 1537-1540
YIN Hanjun, ZHU Suyue, JIANG Yazhou, ZHU Juan. Relationship between UGT1A1 gene mutation and breast milk jaundice[J]. Chinese Journal of General Practice, 2023, 21(9): 1537-1540. doi: 10.16766/j.cnki.issn.1674-4152.003164
Citation: YIN Hanjun, ZHU Suyue, JIANG Yazhou, ZHU Juan. Relationship between UGT1A1 gene mutation and breast milk jaundice[J]. Chinese Journal of General Practice, 2023, 21(9): 1537-1540. doi: 10.16766/j.cnki.issn.1674-4152.003164
shu

Relationship between UGT1A1 gene mutation and breast milk jaundice

doi: 10.16766/j.cnki.issn.1674-4152.003164

  • Department of Pediatrics, Suqian Hospital of Nanjing Drum Tower Hospital Group Affiliated to Xuzhou Medical University, Suqian, Jiangsu 223800, China

Funds:

 F202153

 S201912

 K202002

 XYFM2020017

  • Received Date: 2023-01-26
    Available Online: 2023-10-19
    Abstract
  •   Objective  To study the distribution of UGT1A1 gene in newborns of Han nationality and explore the effect of UGT1A1 gene mutation on the occurrence of breast milk jaundice in newborns.  Methods  Using the case-control study design, 109 newborns with breast milk jaundice in Suqian Hospital of Nanjing Gulou Hospital Group from January 2018 to June 2020 were selected as the case group, and another 109 healthy newborns in the same period were selected as the control group.Clinical data were collected, peripheral blood was collected, whole blood DNA was extracted, and UGT1A1 gene was amplified and sequenced by PCR.The association of UGT1A1 gene polymorphism with breast milk jaundice and peak concentration of unconjugated bilirubin was analyzed.Through a prospective follow-up study, the regression of jaundice in newborns with different genotypes of breast milk jaundice was analyzed.  Results  There was no statistically significant difference between the case group and the control group in gender, birth mode, birth weight and gestational age (all P>0.05).There was no statistically significant difference in the frequency of UGT1A1*28 7TA/7TA, UGT1A1*63 C/T and UGT1A1*7 T/G between the two groups (all P>0.05).There was a correlation between UGT1A1*6 and neonatal milk jaundice (OR=3.561, 95%CI: 2.179-5.822).The serum bilirubin concentration of UGT1A1*6 homozygous mutation group was higher than that of the other two groups (P=0.001).A total of 65 cases of neonatal jaundice due to breast milk were followed up.Among them, 55 newborns completely disappeared within three months, and 8 cases of UGT1A1*6G/A mutant neonatal jaundice lasted more than three months.  Conclusion  UGT1A1*6 mutation is a risk factor for breast milk jaundice in Han nationality in this region.

     

    • FullText(HTML)
  • loading
    • References(20)
  • [1]
    PRAMEELA K K. Breastfeeding during breast milk jaundice-a pathophysiological perspective[J]. Med J Malaysia, 2019, 74(6): 527-533.
    [2]
    沈仁, 杨善浦, 刘红艳, 等. 超高效液相色谱-串联质谱测定新生儿母乳性黄疸早期胆汁酸谱的意义[J]. 中华全科医学, 2020, 18(12): 2051-2053. doi: 10.16766/j.cnki.issn.1674-4152.001686

    SHEN R, YANG S P, LIU H Y, et al. Significance of determination of bile acid spectrum in early stage of neonatal breast milk jaundice by UPLC-MS/MS[J]. Chinese Journal of General Practice, 2020, 18(12): 2051-2053. doi: 10.16766/j.cnki.issn.1674-4152.001686
    [3]
    MEMON N, WEINBERGER B I, HEGYI T, et al. Inherited disorders of bilirubin clearance[J]. Pediatr Res, 2016, 79(3): 378-386. doi: 10.1038/pr.2015.247
    [4]
    MARUO Y, MORIOKA Y, FUJITO H, et al. Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice[J]. J Pediatr, 2014, 165(1): 36-41. doi: 10.1016/j.jpeds.2014.01.060
    [5]
    BENTIVEGNA A, SANTAMBROGIO J, CLERICI M. UGT1A1 mutations and psychoses: towards understanding the relationship with unconjugated bilirubin[J]. CNS Spectr, 2021, 26(3): 188-190. doi: 10.1017/S1092852919001251
    [6]
    邵肖梅, 叶鸿瑁, 丘小汕. 实用新生儿学[M]. 5版. 北京: 人民卫生出版社, 2019: 455-456.

    SHAO X M, YE H M, QIU X S, et al. Practical Neonatology[M]. 5th Edition. Beijing: People's Medical Publishing House, 2019: 455-456.
    [7]
    FUJIWARA R, MARUO Y, CHEN S, et al. Role of extrahepatic UDP-glucuronosyltransferase 1A1: advances in understanding breast milk-induced neonatal hyperbilirubinemia[J]. Toxicol Appl Pharmacol, 2015, 289(1): 124-132. doi: 10.1016/j.taap.2015.08.018
    [8]
    MI X X, YAN J, MA X J, et al. Analysis of the UGT1A1 genotype in hyperbilirubinemia patients: differences in allele frequency and distribution[J]. Biomed Res Int, 2019, 2019: 6272174. DOI: 10.1155/2019/6272174.
    [9]
    ITOH S, OKADA H, KOYANO K, et al. Fetal and neonatal bilirubin metabolism[J]. Front Pediatr, 2022, 10: 1002408. DOI: 10.3389/fped.2022.1002408.
    [10]
    IVANOV A, SEMENOVA E. Gilbert ' s syndrome, bilirubin level and UGT1A1 *28 genotype in men of North-West Region of Russia[J]. J Clin Exp Hepatol, 2021, 11(6): 691-699. doi: 10.1016/j.jceh.2021.01.006
    [11]
    MAZUR-KOMINEK K, ROMANOWSKI T, BIELAWSKI K, et al. Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia[J]. Acta Biochim Pol, 2017, 64(2): 351-356.
    [12]
    MOYER A M, SKIERKA J M, KOTZER K E, et al. Clinical UGT1A1 genetic analysis in pediatric patients: experience of a reference laboratory[J]. Mol Diagn Ther, 2017, 21(3): 327-335. doi: 10.1007/s40291-017-0265-0
    [13]
    MARUO Y, NAKAHARA S, YANAGI T, et al. Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type Ⅱ and Gilbert syndrome[J]. J Gastroenterol Hepatol, 2016, 31(2): 403-408. doi: 10.1111/jgh.13071
    [14]
    HUANG M J, CHEN Y C, HUANG Y Y, et al. Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert ' s syndrome[J]. Kaohsiung J Med Sci, 2019, 35(7): 432-439. doi: 10.1002/kjm2.12077
    [15]
    SUN L, LI M, ZHANG L, et al. Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type Ⅱ[J]. Medicine (Baltimore), 2017, 96(45): e8620. DOI: 10.1097/MD.0000000000008620.
    [16]
    谯艳妮, 朱渝. Crigler-Najjar综合征3例基因分析并文献复习[J]. 现代医药卫生, 2018, 34(23): 3741-3742.

    QIAO Y N, ZHU Y. Genetic analysis of three cases of Crigler-Najjar syndrome and literature review[J]. Journal of Modern Medicine & Health, 2018, 34(23): 3741-3742.
    [17]
    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. https://www.cnki.com.cn/Article/CJFDTOTAL-LCAK202209006.htm

    LIU L, JIANG Y H, NIE P R, et al. Investigation of the relationship between gene polymorphisms and neonatal hyperbilirubinemia in southwest China[J]. J Clin Pediatr, 2022, 40(9): 672-678. https://www.cnki.com.cn/Article/CJFDTOTAL-LCAK202209006.htm
    [18]
    WANG J, YIN J S, XUE M, et al. Roles of UGT1A1 Gly71Arg and TATA promoter polymorphisms in neonatal hyperbilirubinemia: a meta-analysis[J]. Gene, 2020, 736: 144409. DOI: 10.1016/j.gene.2020.144409.
    [19]
    傅雯萍, 吴彬彬, 王恒. UGT1A1 G71R基因多态性对母乳性黄疸程度的影响[J]. 临床儿科杂志, 2010, 28(3): 255-257. https://www.cnki.com.cn/Article/CJFDTOTAL-LCAK201003020.htm

    FU W P, WU L L, WANG H. The effect of UDP-glucoronosyl transferase 1A1 G71R mutation on bilirubin level in infants with breast-milk[J]. J Clin Pediatr, 2010, 28(3): 255-257. https://www.cnki.com.cn/Article/CJFDTOTAL-LCAK201003020.htm
    [20]
    ZAJA O, TILJAK M K, STEFANOVIC M, et al. Correlation of UGT1A1 TATA-box polymorphism and jaundice in breastfed newborns-early presentation of Gilbert ' s syndrome[J]. J Matern Fetal Neonatal Med, 2014, 27(8): 844-850.
    • Relative Articles
    • Supplements(0)
    • Cited By
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Tables(6)

    Get Citation
    PDF
    XML

    Article Metrics

    Article views (201) PDF downloads(8) Cited by()
    Proportional views
    Related

    Address：No. 287, Changhuai Road, Bengbu, Anhui Province, 233004, P.R.ChinaphoneNo：0552-3066635； 0552-3051890Email：zhqkyx@163.com

    Copyright © Chinese Journal of General Practice皖ICP备2020018345号-2

    Supported by: Beijing Renhe Information Technology Co., Ltd.    

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return