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Published in: BMC Gastroenterology 1/2017

Open Access 01-12-2017 | Research article

A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China

Authors: Jian-Hua Lei, Xu Yang, Xin-Qiang Xiao, Zi Chen, Feng Peng

Published in: BMC Gastroenterology | Issue 1/2017

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Abstract

Background

European researchers have underscored associations between single nucleotide polymorphism (SNP) rs2287622 of the hepatobiliary bile salt export pump (BSEP) gene and the risk of hepatitis C virus (HCV) infection. The distributions of SNP rs2287622 are racially specific. This study was aimed to preliminarily investigate the distribution of BSEP gene SNP rs2287622 in the Han patients with chronic HCV-infection (CHC) in Hunan, China.

Methods

BSEP gene SNP rs2287622 of 165 CHC patients, 99 patients with chronic hepatitis B virus infection (CHB) and 99 healthy individuals were analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis and nucleotide sequencing.

Results

The overall frequencies of the C allele of BESP gene SNP rs2287622 in the CHC patients, CHB patients and healthy individuals were 74.2, 72.7 and 74.2%, respectively (P > 0.05). The overall odds ratios (ORs) aiming at predicting CHC risk by comparing the ratios of the frequency distribution of alleles or genotypes in the CHC group with those in the non-CHC group had no statistical significance (P > 0.05). However, the CHC ORs of CC vs TT, TC vs TT and CC + CT vs TT among the individuals aged over 40 years were 2.680, 3.122 and 2.824 respectively (P < 0.05), and the higher risk did not relate to gender, HCV genotypes and presence of HCV-related liver cirrhosis.

Conclusions

Among the Han individuals aged over 40 years in Hunan, China, genotype CC or CT of BSEP gene SNP rs2287622 may correlate with higher risk of CHC in comparison with genotype TT. Further study with a larger cohort is essential.
Literature
1.
go back to reference Mohd Hanafiah K, Groeger J, Flaxman AD, Wiersma ST. Global epidemiology of hepatitis C virus infection: new estimates of age-specific antibody to HCV seroprevalence. Hepatology. 2013;57(4):1333–42.CrossRefPubMed Mohd Hanafiah K, Groeger J, Flaxman AD, Wiersma ST. Global epidemiology of hepatitis C virus infection: new estimates of age-specific antibody to HCV seroprevalence. Hepatology. 2013;57(4):1333–42.CrossRefPubMed
3.
go back to reference Cui Y, Jia J. Update on epidemiology of hepatitis B and C in China. J Gastroenterol Hepatol. 2013;28 Suppl 1:7–10.CrossRefPubMed Cui Y, Jia J. Update on epidemiology of hepatitis B and C in China. J Gastroenterol Hepatol. 2013;28 Suppl 1:7–10.CrossRefPubMed
4.
go back to reference Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen AH, Muir AJ, Sulkowski M, McHutchison JG, Goldstein DB. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature. 2009;461(7262):399–401.CrossRefPubMed Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen AH, Muir AJ, Sulkowski M, McHutchison JG, Goldstein DB. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature. 2009;461(7262):399–401.CrossRefPubMed
5.
go back to reference Rauch A, Kutalik Z, Descombes P, Cai T, Di Iulio J, Mueller T, Bochud M, Battegay M, Bernasconi E, Borovicka J, Colombo S, Cerny A, Dufour JF, Furrer H, Günthard HF, Heim M, Hirschel B, Malinverni R, Moradpour D, Müllhaupt B, Witteck A, Beckmann JS, Berg T, Bergmann S, Negro F, Telenti A, Bochud PY, Swiss Hepatitis C Cohort Study; Swiss HIV Cohort Study. Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Gastroenterology. 2010;138(4):1338–45.CrossRefPubMed Rauch A, Kutalik Z, Descombes P, Cai T, Di Iulio J, Mueller T, Bochud M, Battegay M, Bernasconi E, Borovicka J, Colombo S, Cerny A, Dufour JF, Furrer H, Günthard HF, Heim M, Hirschel B, Malinverni R, Moradpour D, Müllhaupt B, Witteck A, Beckmann JS, Berg T, Bergmann S, Negro F, Telenti A, Bochud PY, Swiss Hepatitis C Cohort Study; Swiss HIV Cohort Study. Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Gastroenterology. 2010;138(4):1338–45.CrossRefPubMed
6.
go back to reference Tang S, Yue M, Wang J, Su J, Yu R, Zhou D, Xu K, Cai L, Zhang Y, Wang J. Association of genetic variants in estrogen receptor ɑ with HCV infection susceptibility and viral clearance in a high-risk Chinese population. Eur J Clin Microbiol Infect Dis. 2014;33(6):999–1010.CrossRefPubMed Tang S, Yue M, Wang J, Su J, Yu R, Zhou D, Xu K, Cai L, Zhang Y, Wang J. Association of genetic variants in estrogen receptor ɑ with HCV infection susceptibility and viral clearance in a high-risk Chinese population. Eur J Clin Microbiol Infect Dis. 2014;33(6):999–1010.CrossRefPubMed
7.
go back to reference Yue M, Gao CF, Wang JJ, Wang CJ, Feng L, Wang J, Yu RB, Peng ZH, Xue XX, Cai L, Fan NJ, Zhang Y, Deng XZ. Toll-like receptor 7 variations are associated with the susceptibility to HCV infection among Chinese females. Infect Genet Evol. 2014;27:264–70.CrossRefPubMed Yue M, Gao CF, Wang JJ, Wang CJ, Feng L, Wang J, Yu RB, Peng ZH, Xue XX, Cai L, Fan NJ, Zhang Y, Deng XZ. Toll-like receptor 7 variations are associated with the susceptibility to HCV infection among Chinese females. Infect Genet Evol. 2014;27:264–70.CrossRefPubMed
8.
go back to reference Iwata R, Stieger B, Mertens JC, Müller T, Baur K, Frei P, Braun J, Vergopoulos A, Martin IV, Schmitt J, Goetze O, Bibert S, Bochud PY, Müllhaupt B, Berg T, Geier A, Swiss Hepatitis C Cohort Study Group. The role of bile acid retention and a common polymorphism in the ABCB11 gene as host factors affecting antiviral treatment response in chronic hepatitis C. J Viral Hepat. 2011;18(11):768–78.CrossRefPubMed Iwata R, Stieger B, Mertens JC, Müller T, Baur K, Frei P, Braun J, Vergopoulos A, Martin IV, Schmitt J, Goetze O, Bibert S, Bochud PY, Müllhaupt B, Berg T, Geier A, Swiss Hepatitis C Cohort Study Group. The role of bile acid retention and a common polymorphism in the ABCB11 gene as host factors affecting antiviral treatment response in chronic hepatitis C. J Viral Hepat. 2011;18(11):768–78.CrossRefPubMed
9.
go back to reference Kubitz R, Brinkmeyer C, Sagir A, Herebian D, Häussinger D. Genetic variants of the bile salt export pump: inducers and modifiers of liver diseases. Dig Dis. 2011;29(1):89–92.CrossRefPubMed Kubitz R, Brinkmeyer C, Sagir A, Herebian D, Häussinger D. Genetic variants of the bile salt export pump: inducers and modifiers of liver diseases. Dig Dis. 2011;29(1):89–92.CrossRefPubMed
10.
go back to reference Müllenbach R, Weber SN, Krawczyk M, Zimmer V, Sarrazin C, Lammert F, Grünhage F. A frequent variant in the human bile salt export pump gene ABCB11 is associated with hepatitis C virus infection, but not liver stiffness in a German population. BMC Gastroenterol. 2012;12:63–8.CrossRefPubMedPubMedCentral Müllenbach R, Weber SN, Krawczyk M, Zimmer V, Sarrazin C, Lammert F, Grünhage F. A frequent variant in the human bile salt export pump gene ABCB11 is associated with hepatitis C virus infection, but not liver stiffness in a German population. BMC Gastroenterol. 2012;12:63–8.CrossRefPubMedPubMedCentral
11.
go back to reference Iwata R, Baur K, Stieger B, Mertens JC, Daly AK, Frei P, Braun J, Vergopoulos A, Stickel F, Sabrane K, Martin IV, Schmitt J, Goetze O, Day CP, Müllhaupt B, Geier A, Swiss Hepatitis C Cohort Study Group. A common polymorphism in the ABCB11 gene is associated with advanced fibrosis in hepatitis C but not in non-alcoholic fatty liver disease. Clin Sci (Lond). 2011;120(7):287–96.CrossRef Iwata R, Baur K, Stieger B, Mertens JC, Daly AK, Frei P, Braun J, Vergopoulos A, Stickel F, Sabrane K, Martin IV, Schmitt J, Goetze O, Day CP, Müllhaupt B, Geier A, Swiss Hepatitis C Cohort Study Group. A common polymorphism in the ABCB11 gene is associated with advanced fibrosis in hepatitis C but not in non-alcoholic fatty liver disease. Clin Sci (Lond). 2011;120(7):287–96.CrossRef
12.
go back to reference Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, Hsu HY, Wu TC, Chang MH. Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. J Pediatr. 2008;153(6):825–32.CrossRefPubMed Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, Hsu HY, Wu TC, Chang MH. Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. J Pediatr. 2008;153(6):825–32.CrossRefPubMed
13.
go back to reference Kim SR, Saito Y, Itoda M, Maekawa K, Kawamoto M, Kamatani N, Ozawa S, Sawada J. Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population. Drug Metab Pharmacokinet. 2009;24(3):277–781.CrossRefPubMed Kim SR, Saito Y, Itoda M, Maekawa K, Kawamoto M, Kamatani N, Ozawa S, Sawada J. Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population. Drug Metab Pharmacokinet. 2009;24(3):277–781.CrossRefPubMed
14.
go back to reference Hu G, He P, Liu Z, Chen Q, Zheng B, Zhang Q. Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. Mol Med Rep. 2014;10(3):1264–74.PubMedPubMedCentral Hu G, He P, Liu Z, Chen Q, Zheng B, Zhang Q. Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. Mol Med Rep. 2014;10(3):1264–74.PubMedPubMedCentral
15.
go back to reference Tarantino G, Citro V, Conca P, Riccio A, Tarantino M, Capone D, Cirillo M, Lobello R, Iaccarino V. What are the implications of the spontaneous spleno-renal shunts in liver cirrhosis? BMC Gastroenterol. 2009;9:89.CrossRefPubMedPubMedCentral Tarantino G, Citro V, Conca P, Riccio A, Tarantino M, Capone D, Cirillo M, Lobello R, Iaccarino V. What are the implications of the spontaneous spleno-renal shunts in liver cirrhosis? BMC Gastroenterol. 2009;9:89.CrossRefPubMedPubMedCentral
16.
go back to reference Tarantino G, Citro V, Esposito P, Giaquinto S, de Leone A, Milan G, Tripodi FS, Cirillo M, Lobello R. Blood ammonia levels in liver cirrhosis: a clue for the presence of portosystemic collateral veins. BMC Gastroenterol. 2009;9:21.CrossRefPubMedPubMedCentral Tarantino G, Citro V, Esposito P, Giaquinto S, de Leone A, Milan G, Tripodi FS, Cirillo M, Lobello R. Blood ammonia levels in liver cirrhosis: a clue for the presence of portosystemic collateral veins. BMC Gastroenterol. 2009;9:21.CrossRefPubMedPubMedCentral
17.
go back to reference Kubitz R, Dröge C, Stindt J, Weissenberger K, Häussinger D. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol. 2012;36(6):536–53.CrossRefPubMed Kubitz R, Dröge C, Stindt J, Weissenberger K, Häussinger D. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol. 2012;36(6):536–53.CrossRefPubMed
18.
20.
go back to reference Chhatwal P, Bankwitz D, Gentzsch J, Frentzen A, Schult P, Lohmann V, Pietschmann T. Bile acids specifically increase hepatitis C virus RNA-replication. PLoS One. 2012;7(4):e36029.CrossRefPubMedPubMedCentral Chhatwal P, Bankwitz D, Gentzsch J, Frentzen A, Schult P, Lohmann V, Pietschmann T. Bile acids specifically increase hepatitis C virus RNA-replication. PLoS One. 2012;7(4):e36029.CrossRefPubMedPubMedCentral
21.
go back to reference Scholtes C, Diaz O, Icard V, Kaul A, Bartenschlager R, Lotteau V, André P. Enhancement of genotype 1 hepatitis C virus replication by bile acids through FXR. J Hepatol. 2008;48(2):192–9.CrossRefPubMed Scholtes C, Diaz O, Icard V, Kaul A, Bartenschlager R, Lotteau V, André P. Enhancement of genotype 1 hepatitis C virus replication by bile acids through FXR. J Hepatol. 2008;48(2):192–9.CrossRefPubMed
22.
go back to reference André P, Ramière C, Scholtes C, Curtil C, Lotteau V. Role of nuclear receptors in hepatitis B and C infections. Clin Res Hepatol Gastroenterol. 2011;35(3):169–75.CrossRefPubMed André P, Ramière C, Scholtes C, Curtil C, Lotteau V. Role of nuclear receptors in hepatitis B and C infections. Clin Res Hepatol Gastroenterol. 2011;35(3):169–75.CrossRefPubMed
23.
go back to reference Patton JB, George D, Chang KO. Bile acids promote HCV replication through the EGFR/ERK pathway in replicon-harboring cells. Intervirology. 2011;54(6):339–48.CrossRefPubMedPubMedCentral Patton JB, George D, Chang KO. Bile acids promote HCV replication through the EGFR/ERK pathway in replicon-harboring cells. Intervirology. 2011;54(6):339–48.CrossRefPubMedPubMedCentral
24.
go back to reference Graf D, Haselow K, Münks I, Bode JG, Häussinger D. Inhibition of interferon-α-induced signaling by hyperosmolarity and hydrophobic bile acids. Biol Chem. 2010;91(10):1175–87. Graf D, Haselow K, Münks I, Bode JG, Häussinger D. Inhibition of interferon-α-induced signaling by hyperosmolarity and hydrophobic bile acids. Biol Chem. 2010;91(10):1175–87.
25.
go back to reference Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Hepatology. 2009;49(2):553–67.CrossRefPubMed Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Hepatology. 2009;49(2):553–67.CrossRefPubMed
26.
go back to reference Krawczyk M, Grünhage F, Langhirt M, Bohle RM, Lammert F. Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters. Ann Hepatol. 2012;11(5):710–4.PubMed Krawczyk M, Grünhage F, Langhirt M, Bohle RM, Lammert F. Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters. Ann Hepatol. 2012;11(5):710–4.PubMed
Metadata
Title
A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China
Authors
Jian-Hua Lei
Xu Yang
Xin-Qiang Xiao
Zi Chen
Feng Peng
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Gastroenterology / Issue 1/2017
Electronic ISSN: 1471-230X
DOI
https://doi.org/10.1186/s12876-017-0594-9

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