Functional Analyses of Endometriosis-Related Polymorphisms in the Estrogen Synthesis and Metabolism-Related Genes 英文参考文献.docVIP

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Functional Analyses of Endometriosis-Related Polymorphisms in the Estrogen Synthesis and Metabolism-Related Genes 英文参考文献.doc

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Functional Analyses of Endometriosis-Related Polymorphisms in the Estrogen Synthesis and Metabolism-Related Genes 英文参考文献

FunctionalAnalysesofEndometriosis-Related PolymorphismsintheEstrogenSynthesisand Metabolism-RelatedGenes Hsin-ShihWang1,2,Hsien-MingWu1,Bi-HwaCheng2,3,Chih-FengYen1,Pi-YuehChang4,AngelChao1, Yun-ShienLee5,6,Hsien-DaHuang7*,Tzu-HaoWang1,5* 1DepartmentofObstetricsandGynecology,ChangGungMemorialHospital,Lin-KouMedicalCenter,ChangGungUniversity,Taoyuan,Taiwan,2GraduateInstituteof ClinicalMedicalSciences,CollegeofMedicine,ChangGungUniversity,Taoyuan,Taiwan,3DepartmentofObstetricsandGynecology,ChangGungMemorialHospital, KaohsiungMedicalCenter,Kaohsiung,Taiwan,4DepartmentofLaboratoryMedicine,ChangGungMemorialHospital,Lin-KouMedicalCenter,ChangGungUniversity, Taoyuan, Taiwan, 5Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taoyuan, Taiwan, 6Department of Biotechnology, Ming Chuan University, Taoyuan, Taiwan, 7Department of Biological Science and Technology, Institute of Bioinformatics and Systems Biology, National Chiao Tung University, HsinChu,Taiwan Abstract Endometriosisisdeterminedbygeneticfactors,andtheprevalenceofgeneticpolymorphismsvariesgreatlydependingon the ethnic group studied. The objective of this study was to investigate the relationship between single nucleotide polymorphisms(SNPs)of9genesinvolvedinestrogenbiosynthesisandmetabolismandtherisksofendometriosis.Three hundred patients with endometriosis and 337 non-endometriotic controls were recruited. Thirty four non-synonymous SNPs, which change amino acid residues, were analyzed using matrix-assisted laser desorption-ionization time-of-flight massspectrometry(MALDI-TOFMS).ThefunctionsofSNP-resultedaminoacidchangeswereanalyzedusingmultipleweb- accessible databases and phosphorylation predicting algorithms. Among the 34NCBI-listed SNPs, 22 did not exhibit polymorphism in this study of more than 600 Taiwanese Chinese women. However, homozygous and heterozygous mutantsof4SNPs-rs6165(genotypeGG+GA,307 Ala/Ala+ 307Ala/Thr)ofFSHR,rs6166(genotypeGG GA,680 680Ser/Ser Ser/Asn+ + ) ofFS