|本期目录/Table of Contents|

[1]周莹乔综述,杨剑审校.Gilbert综合征及UGT1A1基因多态性研究进展[J].医学研究与战创伤救治(原医学研究生学报),2018,20(02):181-184.[doi:10.3969/j.issn.1672-271X.2018.02.017]
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Gilbert综合征及UGT1A1基因多态性研究进展()

《医学研究与战创伤救治》(原医学研究生学报)[ISSN:1672-271X/CN:32-1713/R]

卷:
第20卷
期数:
2018年02期
页码:
181-184
栏目:
综述
出版日期:
2018-03-20

文章信息/Info

Title:
-
作者:
周莹乔综述杨剑审校
作者单位:210046南京,南京市仙林鼓楼医院消化内科(周莹乔、杨剑)
Author(s):
-
关键词:
Gilbert综合征UGT1A1基因多态性UGT1A1*28UGT1A1*6
Keywords:
-
分类号:
R730
DOI:
10.3969/j.issn.1672-271X.2018.02.017
文献标志码:
A
摘要:
Gilbert综合征是一种较为常见的人类遗传代谢性疾病,其特点是排除肝胆疾病及溶血情况下出现的间歇性高间接胆红素血症。UGT1A1基因多态性导致UGT1的活性降低是Gilbert综合征的主要发病机制。Gilbert综合征的诊断主要为排他性诊断,结合基因检测,可避免有创性特殊检查,如肝活检及经内镜胆管造影术。另外,Gilbert综合征及UGT1A1基因多态性在多种疾病发病和药物代谢中发挥着重要的作用,但具体影响及机制目前尚不明确。文章主要就Gilbert综合征的发病机制、诊断、预后以及UGT1A1基因多态性与多种疾病发病和药物代谢之间的关系进行综述。
Abstract:
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参考文献/References:

[1]Tan TC, Da Costa JL. Gilbert′s disease[J]. Singapore Med J, 1967, 8(2): 123-125.
[2]Hirschfield GM, Alexander GJ. Gilbert′s syndrome: an overview for clinical biochemists[J]. Ann Clin Biochem, 2006, 43(Pt 5): 340-343.
[3]Strassburg CP. Gilbert-Meulengracht′s syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?[J]Drug Metab Rev, 2010, 42(1): 168-181.
[4]Strassburg CP. Pharmacogenetics of Gilbert′s syndrome[J]. Pharmacogenomics, 2008, 9(6): 703-715.
[5]Fretzayas A, Moustaki M, Liapi O, et al. Gilbert syndrome[J]. Eur J Pediatr, 2012, 171(1): 11-15.
[6]郭栋,庞良芳,周宏灏.尿苷二磷酸葡萄糖醛酸基转移酶基因多态性的研究进展[J].生理科学进展,2010,41(2):107-111.
[7]Sugatani J. Function, genetic polymorphism, and transcriptional regulation of human UDP-glucuronosyltransferase (UGT) 1A1[J]. Drug Metab Pharmacokinet, 2013, 28(2): 83-92.
[8]Raijmakers MT, Jansen PL, Steegers EA, et al. Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene[J]. J Hepatol, 2000, 33(3): 348-351.
[9]Canu G, Minucci A, Zuppi C, et al. Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database[J]. Blood Cells Mol Dis, 2013, 50(4): 273-280.
[10]D′Angelo R, Rinaldi C, Donato L, et al. The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promoter causes Gilbert′s syndrome[J]. Ann Clin Lab Sci, 2015, 45(2): 202-205.
[11]Matsui K, Maruo Y, Sato H, et al. Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome[J]. BMC Gastroenterol, 2010, 10: 57.
[12]Kringen MK, Piehler AP, Grimholt RM, et al. Serum bilirubin concentration in healthy adult North-Europeans is strictly controlled by the UGT1A1 TA-repeat variants[J]. PLoS One, 2014, 9(2): e90248.
[13]Huang CS. Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese[J]. J Biomed Sci, 2005, 12(3): 445-450.
[14]Hu RT, Wang NY, Huang MJ, et al. Multiple variants in UGT1A1 gene are factors to develop indirect hyper-bilirubinemia[J]. Hepatobiliary Surg Nutr, 2014, 3(4): 194-198.
[15]Johnson AD, Kavousi M, Smith AV, et al. Genome-wide association meta-analysis for total serum bilirubin levels[J]. Hum Mol Genet, 2009, 18(14): 2700-2710.
[16]姥义,徐永利,桑玉顺.阻塞性黄疸的超声诊断[J].东南国防医药,2003,5(4):277-278.
[17]Claridge LC, Armstrong MJ, Booth C, et al. Gilbert′s syndrome[J]. BMJ, 2011, 342: d2293.
[18]Teich N, Lehmann I, Rosendahl J, et al. The inverse starving test is not a suitable provocation test for Gilbert′s syndrome[J]. BMC Res Notes, 2008, 1: 35.
[19]Hsieh TY, Shiu TY, Chu NF, et al. Rapid molecular diagnosis of the Gilbert′s syndrome-associated exon 1 mutation within the UGT1A1 gene[J]. Genet Mol Res, 2014, 13(1): 670-679.
[20]Song J, Sun M, Li J, et al. Three-dimensional polyacrylamide gel-based DNA microarray method effectively identifies UDP-glucuronosyltransferase 1A1 gene polymorphisms for the correct diagnosis of Gilbert′s syndrome[J]. Int J Mol Med, 2016, 37(3): 575-580.
[21]Floreani A, Corsi N, Martines D, et al. No effect of endurance exercise on serum bilirubin in healthy athletes and with congenital hyperbilirubinemia (Gilbert′s syndrome) [J]. J Sports Med Phys Fitness, 1993, 33(1): 79-82.
[22]Chang JL, Bigler J, Schwarz Y, et al. UGT1A1 polymorphism is associated with serum bilirubin concentrations in a randomized, controlled, fruit and vegetable feeding trial[J]. J Nutr, 2007, 137(4): 890-897.
[23]张情梅,任榕娜.新生儿高胆红素血症远期神经心理发育的相关研究[J].东南国防医药,2016,18(5):479-482.
[24]Long J, Zhang S, Fang X, et al. Association of neonatal hyperbilirubinemia with uridine diphosphate-glucuronosyltransferase 1A1 gene polymorphisms: meta-analysis[J]. Pediatr Int, 2011, 53(4): 530-540.
[25]Zaja O, Tiljak MK, 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.
[26]王嶙峰.老年人胆囊炎和胆石症的治疗[J].南京部队医药,2001,3(1):43-44.
[27]AlFadhli S, Al-Jafer H, Hadi M, et al. The effect of UGT1A1 promoter polymorphism in the development of hyperbilirubinemia and cholelithiasis in hemoglobinopathy patients[J]. PLoS One, 2013, 8(10): e77681.
[28]Chu CH, Yang AM, Kao JH, et al. Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism is associated with choledocholithiasis in Taiwanese patients[J]. J Gastroenterol Hepatol, 2009, 24(9): 1559-1561.
[29]范铁艳,陈虹,王旭,等.肝移植术后Gilbert综合征的诊断[J].中国急救复苏与灾害医学杂志, 2011,6(7):664-668.
[30]Kaneko J, Sugawara Y, Maruo Y, et al. Liver transplantation using donors with Gilbert syndrome[J]. Transplantation, 2006, 82(2): 282-285.
[31]Lin JP, O′Donnell CJ, Schwaiger JP, et al. Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study[J]. Circulation, 2006, 114(14): 1476-1481.
[32]Tang KS, Chiu HF, Chen HH, et al. Link between colorectal cancer and polymorphisms in the uridine-diphosphoglucuronosyltransferase 1A7 and 1A1 genes[J]. World J Gastroenterol, 2005, 11(21): 3250-3254.
[33]Duguay Y, McGrath M, Lepine J, et al. The functional UGT1A1 promoter polymorphism decreases endometrial cancer risk[J]. Cancer Res, 2004, 64(3): 1202-1207.
[34]Hu ZY, Yu Q, Pei Q, et al. Dose-dependent association between UGT1A1*28 genotype and irinotecan-induced neutropenia: low doses also increase risk[J]. Clin Cancer Res, 2010, 16(15): 3832-3842.
[35]Rasool A, Sabir S, Ashlaq M, et al. Gilbert′s Syndrome - a Concealed Adversity for Physicians and Surgeons[J]. J Ayub Med Coll Abbottabad, 2015, 27(3): 707-710.

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备注/Memo

备注/Memo:
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更新日期/Last Update: 2018-03-20