岩藻糖基转移酶2研究进展
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摘要
岩藻糖基转移酶2(FUT2)作为岩藻糖基转移酶的一种,分布在口腔黏膜上皮、呼吸道上皮、泌尿生殖道细胞以及体液中。FUT2与ABO血型、原发性硬化性胆管炎、溃疡性结肠炎、克罗恩病、急性胃肠炎等相关。其中,FUT2与H抗原相关,原发性硬化性胆管炎患者中发现FUT2相关位点,克罗恩病与FUT2非分泌型相关,在诺如病毒感染急性肠胃炎的患儿中,民族、种族、遗传等因素与FUT2相关。FUT2在原发性硬化性胆管炎、溃疡性结肠炎、克罗恩病等疾病的病因及发病机制等方面发挥作用。
It is well known that fucosyltransferase 2( FUT2) is one of the fucosyltransferases. The FUT2 is distributed throughout oral mucosal epithelium cell,airway epithelial cell,genitourinary epithelial cell and body fluids. It is associated with ABO blood groups,primary sclerosing cholangitis,ulcerative colitis,Crohn' s disease,acute gastroenteritis etc. FUT2 is associated with H antigen; several sites in FUT2 were found in primary sclerosing cholangitis. The FUT2 non-secretor status is associated with Crohn's disease,and ethnicity,race and genetic factors can be influenced by FUT2 in Norovirus acute gastroenteritis. The FUT2 also functions in the pathogeny and the mechanism of primary sclerosing cholangitis,ulcerative colitics,acute gastroenteritics and other diseases.
It is well known that fucosyltransferase 2( FUT2) is one of the fucosyltransferases. The FUT2 is distributed throughout oral mucosal epithelium cell,airway epithelial cell,genitourinary epithelial cell and body fluids. It is associated with ABO blood groups,primary sclerosing cholangitis,ulcerative colitis,Crohn' s disease,acute gastroenteritis etc. FUT2 is associated with H antigen; several sites in FUT2 were found in primary sclerosing cholangitis. The FUT2 non-secretor status is associated with Crohn's disease,and ethnicity,race and genetic factors can be influenced by FUT2 in Norovirus acute gastroenteritis. The FUT2 also functions in the pathogeny and the mechanism of primary sclerosing cholangitis,ulcerative colitics,acute gastroenteritics and other diseases.
引文
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[2]季君,高春芳.α-1,6岩藻糖基转移酶与肿瘤[J].第二军医大学学报,2011,32(2):209-212.
[3]王慧,李剑平.H抗原缺陷型的研究进展[J].中国输血杂志,2008,21(1):63-65.
[4]Kyprianou P,Betteridge A,Donald AS,et al.Purification of the blood group H gene associated alpha-2-L-fucosyltransferase from human plasma[J].Glycoconj J,1990,7(6):573-588.
[5]Kelly RJ,Rouquier S,Giorgi D,et al.Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene(FUT2).Homozygosity for an enzymeinactivating nonsense mutation commonly correlates with the nonsecretor phenotype[J].J Biol Chem,1995,270(9):4640-4649.
[6]Meng D,Newburg DS,Young C.Bacterial symbionts induce a FUT2-dependent fucosylated niche on colonic epithelium via ERK and JNK signaling[J].Am J Physiol Gastrointest Liver Physiol,2007,293(4):G780-787.
[7]Bhende YM,Deshpande CK,Bhatia HM,et al.A″new″blood group character related to the ABO system[J].Lancet,1952,1(6714):903-904.
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[9]蔡晓红,林琳,陆晔玲,等.Fut1基因突变导致类孟买血型的分子机制[J].中华检验医学杂志,2015,38(11):765-767.
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[12]Avent ND.Human erythrocyte antigen expression:its molecular bases[J].Br J Biomed Sci,1997,54(1):16-37.
[13]Luo G,Wei L,Wang Z,et al.The summary of FUT1 and FUT2genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China[J].Transfusion,2013,53(12):3224-3229.
[14]廖湘成,焦伟,黎海澜,等.类孟买血型的分子机制研究——附2例家系报告[J].中国输血杂志,2015,28(12):1475-1478.
[15]Chapman R,Fevery J,Kalloo A,et al.Diagnosis and management of primary sclerosing cholangitis[J].Hepatology,2010,51(2):660-678.
[16]Rupp C,Friedrich K,Folseraas T.Fut2 genotype is a risk factor for dominant stenosis and biliary candida infections in primary sclerosing cholangitis[J].Aliment Pharmacol Ther,2014,39(8):873-882.
[17]Folseraas T,Melum E,Rausch P,et al.Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci[J].J Hepatol,2012,57(2):366-375.
[18]Hohenester S,Wenniger LM,Paulusma CC,et al.A biliary HCO3-umbrella constitutes a protective mechanism against bile acid-induced injury in human cholangiocytes[J].Hepatology,2012,55(1):173-183.
[19]Mc Govern DP,Jones MR,Taylor KD,et al.Fucosyltransferase 2(FUT2)non-secretor status is associated with Crohn's disease[J].Hum Mol Genet,2010,19(17):3468-3476.
[20]Aheman A,Luo HS,Gao F.Association of fucosyltransferase 2gene variants with ulcerative colitis in Han and Uyghur patients in China[J].World J Gastroenterol,2012,18(34):4758-4764.
[21]Rausch P,Rehman A,Kunzel S,et al.Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2(Secretor)genotype[J].Proc Natl Acad Sci U S A,2011,108(47):19030-19035.
[22]Wacklin P,Makivuokko H,Alakulppi N,et al.Secretor genotype(FUT2 gene)is strongly associated with the composition of Bifidobacteria in the human intestine[J].PLo S One,2011,6(5):e20113.
[23]Miyoshi J,Yajima T,Okamoto S,et al.Ectopic expression of blood type antigens in inflamed mucosa with higher incidence of FUT2secretor status in colonic Crohn's disease[J].J Gastroenterol,2011,46(9):1056-1063.
[24]Franke A,Mc Govern DP,Barrett JC,et al.Genome-wide metaanalysis increases to 71 the number of confirmed Crohn's disease susceptibility loci[J].Nat Genet,2010,42(12):1118-1125.
[25]Kapikian AZ,Wyatt RG,Dolin R,et al.Visualization by immune electron microscopy of a 27-nm particle associated with acute infectious nonbacterial gastroenteritis[J].J Virol,1972,10(5):1075-1081.
[26]Patel MM,Widdowson MA,Glass RI,et al.Systematic literature review of role of noroviruses in sporadic gastroenteritis[J].Emerg Infect Dis,2008,14(8):1224-1231.
[27]Currier RL,Payne DC,Staat MA,et al.Innate Susceptibility to Norovirus Infections Influenced by FUT2 Genotype in a United States Pediatric Population[J].Clin Infect Dis,2015,60(11):1631-1638.
[28]Ben AL,Tarak T,Yosselin V,et al.Norovirus Infection and Disease in an Ecuadorian Birth Cohort:Association of Certain Norovirus Genotypes With Host FUT2 Secretor Status[J].J Infect Dis,2015,211(11):1813-1821.
[29]Liu P,Wang X,Lee JC,et al.Genetic susceptibility to norovirus GⅡ.3 and GⅡ.4 infections in Chinese pediatric diarrheal disease[J].Pediatr Infect Dis J,2014,33(11):e305-309.
[30]Payne DC,Currier RL,Staat MA,et al.Epidemiologic Association Between FUT2 Secretor Status and Severe Rotavirus Gastroenteritis in Children in the United States[J].JAMA Pediatr,2015,169(11):1040-1045.
[31]Campi C,Escovich L,Moreno A,et al.Expression of the gene encoding secretor type galactoside 2αfucosyltransferase(FUT2)and ABH antigens in patients with oral lesions[J].Med Oral Patol Oral Cir Bucal,2012,17(1):e63-68.
[32]Magalhaes A,Rossez Y,Robbe-Masselot C,et al.Muc5ac gastric mucin glycosylation is shaped by FUT2 activity and functionally impacts Helicobacter pylori binding[J].Sci Rep,2016,6:25575.
[33]Weiss FU,Schurmann C,Guenther A,et al.Fucosyltransferase 2(FUT2)non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects,and an increased risk for chronic pancreatitis:a genetic association study[J].Gut,2015,64(4):646-656.
[34]Hazra A,Kraft P,Selhub J,et al.Common variants of FUT2 are associated with plasma vitamin B12levels[J].Nat Genet,2008,40(10):1160-1162.
[2]季君,高春芳.α-1,6岩藻糖基转移酶与肿瘤[J].第二军医大学学报,2011,32(2):209-212.
[3]王慧,李剑平.H抗原缺陷型的研究进展[J].中国输血杂志,2008,21(1):63-65.
[4]Kyprianou P,Betteridge A,Donald AS,et al.Purification of the blood group H gene associated alpha-2-L-fucosyltransferase from human plasma[J].Glycoconj J,1990,7(6):573-588.
[5]Kelly RJ,Rouquier S,Giorgi D,et al.Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene(FUT2).Homozygosity for an enzymeinactivating nonsense mutation commonly correlates with the nonsecretor phenotype[J].J Biol Chem,1995,270(9):4640-4649.
[6]Meng D,Newburg DS,Young C.Bacterial symbionts induce a FUT2-dependent fucosylated niche on colonic epithelium via ERK and JNK signaling[J].Am J Physiol Gastrointest Liver Physiol,2007,293(4):G780-787.
[7]Bhende YM,Deshpande CK,Bhatia HM,et al.A″new″blood group character related to the ABO system[J].Lancet,1952,1(6714):903-904.
[8]Solomon JM,Waggoner R,Leyshon,WC,et al.A quantitative immunogenetic study of gene suppression involving A1 and H antigens of the erythrocyte without affecting secreted blood group substances.The ABH Phenotypes Ahm and Ohm[J].Blood,196525(4):470-485.
[9]蔡晓红,林琳,陆晔玲,等.Fut1基因突变导致类孟买血型的分子机制[J].中华检验医学杂志,2015,38(11):765-767.
[10]杰夫,丹尼尔.人类血型[M].2版.朱自严主译.北京:科学出版社,2007:19.
[11]Rouquier S,Lowe JB,Kelly RJ,et al.Molecular cloning of a human genomic region containing the H blood group alpha(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments.Isolation of a candidate for the human Secretor blood group locus[J].J Biol Chem,1995,270(9)4632-4639.
[12]Avent ND.Human erythrocyte antigen expression:its molecular bases[J].Br J Biomed Sci,1997,54(1):16-37.
[13]Luo G,Wei L,Wang Z,et al.The summary of FUT1 and FUT2genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China[J].Transfusion,2013,53(12):3224-3229.
[14]廖湘成,焦伟,黎海澜,等.类孟买血型的分子机制研究——附2例家系报告[J].中国输血杂志,2015,28(12):1475-1478.
[15]Chapman R,Fevery J,Kalloo A,et al.Diagnosis and management of primary sclerosing cholangitis[J].Hepatology,2010,51(2):660-678.
[16]Rupp C,Friedrich K,Folseraas T.Fut2 genotype is a risk factor for dominant stenosis and biliary candida infections in primary sclerosing cholangitis[J].Aliment Pharmacol Ther,2014,39(8):873-882.
[17]Folseraas T,Melum E,Rausch P,et al.Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci[J].J Hepatol,2012,57(2):366-375.
[18]Hohenester S,Wenniger LM,Paulusma CC,et al.A biliary HCO3-umbrella constitutes a protective mechanism against bile acid-induced injury in human cholangiocytes[J].Hepatology,2012,55(1):173-183.
[19]Mc Govern DP,Jones MR,Taylor KD,et al.Fucosyltransferase 2(FUT2)non-secretor status is associated with Crohn's disease[J].Hum Mol Genet,2010,19(17):3468-3476.
[20]Aheman A,Luo HS,Gao F.Association of fucosyltransferase 2gene variants with ulcerative colitis in Han and Uyghur patients in China[J].World J Gastroenterol,2012,18(34):4758-4764.
[21]Rausch P,Rehman A,Kunzel S,et al.Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2(Secretor)genotype[J].Proc Natl Acad Sci U S A,2011,108(47):19030-19035.
[22]Wacklin P,Makivuokko H,Alakulppi N,et al.Secretor genotype(FUT2 gene)is strongly associated with the composition of Bifidobacteria in the human intestine[J].PLo S One,2011,6(5):e20113.
[23]Miyoshi J,Yajima T,Okamoto S,et al.Ectopic expression of blood type antigens in inflamed mucosa with higher incidence of FUT2secretor status in colonic Crohn's disease[J].J Gastroenterol,2011,46(9):1056-1063.
[24]Franke A,Mc Govern DP,Barrett JC,et al.Genome-wide metaanalysis increases to 71 the number of confirmed Crohn's disease susceptibility loci[J].Nat Genet,2010,42(12):1118-1125.
[25]Kapikian AZ,Wyatt RG,Dolin R,et al.Visualization by immune electron microscopy of a 27-nm particle associated with acute infectious nonbacterial gastroenteritis[J].J Virol,1972,10(5):1075-1081.
[26]Patel MM,Widdowson MA,Glass RI,et al.Systematic literature review of role of noroviruses in sporadic gastroenteritis[J].Emerg Infect Dis,2008,14(8):1224-1231.
[27]Currier RL,Payne DC,Staat MA,et al.Innate Susceptibility to Norovirus Infections Influenced by FUT2 Genotype in a United States Pediatric Population[J].Clin Infect Dis,2015,60(11):1631-1638.
[28]Ben AL,Tarak T,Yosselin V,et al.Norovirus Infection and Disease in an Ecuadorian Birth Cohort:Association of Certain Norovirus Genotypes With Host FUT2 Secretor Status[J].J Infect Dis,2015,211(11):1813-1821.
[29]Liu P,Wang X,Lee JC,et al.Genetic susceptibility to norovirus GⅡ.3 and GⅡ.4 infections in Chinese pediatric diarrheal disease[J].Pediatr Infect Dis J,2014,33(11):e305-309.
[30]Payne DC,Currier RL,Staat MA,et al.Epidemiologic Association Between FUT2 Secretor Status and Severe Rotavirus Gastroenteritis in Children in the United States[J].JAMA Pediatr,2015,169(11):1040-1045.
[31]Campi C,Escovich L,Moreno A,et al.Expression of the gene encoding secretor type galactoside 2αfucosyltransferase(FUT2)and ABH antigens in patients with oral lesions[J].Med Oral Patol Oral Cir Bucal,2012,17(1):e63-68.
[32]Magalhaes A,Rossez Y,Robbe-Masselot C,et al.Muc5ac gastric mucin glycosylation is shaped by FUT2 activity and functionally impacts Helicobacter pylori binding[J].Sci Rep,2016,6:25575.
[33]Weiss FU,Schurmann C,Guenther A,et al.Fucosyltransferase 2(FUT2)non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects,and an increased risk for chronic pancreatitis:a genetic association study[J].Gut,2015,64(4):646-656.
[34]Hazra A,Kraft P,Selhub J,et al.Common variants of FUT2 are associated with plasma vitamin B12levels[J].Nat Genet,2008,40(10):1160-1162.