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Fibroblast growth factor receptor 4 Gly388Arg polymorphism associated with severity of gallstone disease in a Chinese population
Q. Chen1,2,3; W.J. Li2; Y.Y. Wan1; C.D. Yu2; W.G. Li1
2012
Source PublicationGENETICS AND MOLECULAR RESEARCH
ISSN1676-5680
Volume11Issue:1Pages:548-555
Abstract

The etiology of gallstone disease is multifactorial; supersaturation of bile with cholesterol is a primary cause for gallstone formation. In previous studies, we found that fibroblast growth factor receptor 4 (FGFR4) plays an important role in maintaining bile acid homeostasis by regulating the expression of cholesterol 7 alpha-hydroxylase (CYP7A1), a rate-limiting enzyme for bile acid biosynthesis. The Gly388Arg (G-388R) polymorphism of FGFR4 affects stabilization and activation of FGFR4. Consequently, we studied the FGFR4 gene as a candidate gene for genetic susceptibility to gallstone disease. We found that overexpression of FGFR4, especially the G-388R mutant of FGFR4, inhibits luciferase activity of CYP7A1 reporter in HepG2 cells, indicating that the G-388R mutant of FGFR4 may have greater inhibitory activity against bile acid biosynthesis. To investigate the association of FGFR4 polymorphism with gallstone disease, 117 patients with gallstone disease and 457 controls were genotyped for FGFR4 polymorphism G-388R by PCR-RFLP. Although the incidence of gallstone disease was not greater in patients with the FGFR4 RR genotype, the ratio of gallstone patients with acute cholecystitis in the FGFR4 RR genotype (42%) was significantly higher than that in other genotypes of FGFR4 (P = 0.019). In conclusion, the FGFR4 polymorphism is a genetic risk factor contributing to aggravation of gallstone disease.

KeywordFibroblast Growth Factor Receptor 4 Polymorphism Gallstone Disease
DOIhttps://doi.org/10.4238/2012.March.8.3
Indexed BySCI
Language英语
WOS Research AreaBiochemistry & Molecular Biology ; Genetics & Heredity
WOS SubjectBiochemistry & Molecular Biology ; Genetics & Heredity
WOS IDWOS:000301923500059
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Cited Times [WOS]:7   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
CollectionFaculty of Health Sciences
Corresponding AuthorW.J. Li; W.G. Li
Affiliation1.Department of Hepatobiliary Pancreas and Vessel Surgery, Chenggong Hospital of Xiamen University, Xiamen, China
2.State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Xiamen University, Xiamen, China
3.The First Affiliated Hospital of Xiamen University, Xiamen, China
Recommended Citation
GB/T 7714
Q. Chen,W.J. Li,Y.Y. Wan,et al. Fibroblast growth factor receptor 4 Gly388Arg polymorphism associated with severity of gallstone disease in a Chinese population[J]. GENETICS AND MOLECULAR RESEARCH,2012,11(1):548-555.
APA Q. Chen,W.J. Li,Y.Y. Wan,C.D. Yu,&W.G. Li.(2012).Fibroblast growth factor receptor 4 Gly388Arg polymorphism associated with severity of gallstone disease in a Chinese population.GENETICS AND MOLECULAR RESEARCH,11(1),548-555.
MLA Q. Chen,et al."Fibroblast growth factor receptor 4 Gly388Arg polymorphism associated with severity of gallstone disease in a Chinese population".GENETICS AND MOLECULAR RESEARCH 11.1(2012):548-555.
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