title: Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.
abstract: We comprehensively evaluated genetic variants in the thymidylate synthase (TYMS) gene in association with endometrial cancer risk in a population-based case-control study of 1,199 incident endometrial cancer cases and 1,212 age frequency-matched population controls. Exposure information was obtained via in-person interview, and DNA samples (blood or buccal cell) were collected. Genotyping of 11 haplotype-tagging single nucleotide polymorphisms (SNP) for the TYMS gene plus the 5-kb flanking regions was done for 1,028 cases and 1,003 controls by using the Affymetrix MegAllele Targeted Genotyping System. Of 11 haplotype-tagging SNPs identified, 7 that are located in flanking regions of the TYMS gene are also in the ENOSF1 (rTS) gene. The SNP rs3819102, located in the 3'-flanking region of the TYMS gene and in an intron of the ENOSF1 gene, was associated with risk of endometrial cancer. The odds ratio (95% confidence interval) for the CC genotype was 1.5 (1.0-2.2) compared with the TT genotype. Haplotype TTG in block 2 of the TYMS gene, which includes SNPs rs10502289, rs2298583, and rs2298581 (located in introns of the ENOSF1 gene), was associated with a marginally significant decrease in risk of endometrial cancer under the dominant model (odds ratio, 0.8; 95% confidence interval, 0.6-1.0). This study suggests that genetic polymorphisms in the TYMS or ENOSF1 genes may play a role in the development of endometrial cancer among Chinese women.
authors.affiliation: Department of Epidemiology, Cancer Institute of Shanghai Jiao Tong University, Shanghai Cancer Institute, Shanghai, PR China.
authors.forename: Wang-Hong
authors.initials: WH
authors.lastname: Xu
authors.forename: Ji-Rong
authors.initials: JR
authors.lastname: Long
authors.forename: Wei
authors.initials: W
authors.lastname: Zheng
authors.forename: Zhi-Xian
authors.initials: ZX
authors.lastname: Ruan
authors.forename: Qiuyin
authors.initials: Q
authors.lastname: Cai
authors.forename: Jia-Rong
authors.initials: JR
authors.lastname: Cheng
authors.forename: Gen-Ming
authors.initials: GM
authors.lastname: Zhao
authors.forename: Yong-Bing
authors.initials: YB
authors.lastname: Xiang
authors.forename: Xiao-Ou
authors.initials: XO
authors.lastname: Shu
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D016889:Endometrial Neoplasms / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D007438:Introns; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013940:Thymidylate Synthase / Q000235:genetics*
chemical_list: D013940:Thymidylate Synthase