Associations between Polymorphisms within the Thymidylate Synthase Gene and Spina Bifida

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 67, Issue 11, 2003, Pages 924-928

  Volcik, Kelly A ^a   Shaw, Gary M ^b   Zhu, Huiping ^a   Lammer, Edward J ^c   Laurent, Cecile ^b   Finnell, Richard H ^a  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

^b California Birth Defects Monitoring Program   (United States)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

Folate; Polymorphism; Spina bifida; Thymidylate synthase

Indexed keywords

FOLIC ACID; GENOMIC DNA; THYMIDYLATE SYNTHASE;

3' UNTRANSLATED REGION; ARTICLE; BLOOD; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; ETHNIC GROUP; EXON; FOLATE METABOLISM; GENE DELETION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINA BIFIDA; TANDEM REPEAT;

3' UNTRANSLATED REGIONS; CASE-CONTROL STUDIES; DNA PRIMERS; EXONS; FOLIC ACID; GENOTYPE; HOMOCYSTEINE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MODELS, BIOLOGICAL; ODDS RATIO; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPINAL DYSRAPHISM; THYMIDYLATE SYNTHASE;

PIERINAE;

EID: 0344875624     PISSN: 15420752     EISSN: None     Source Type: Journal    
DOI: 10.1002/bdra.10029     Document Type: Article

References (15)

1. Chu E, Allegra CJ. 1996. The role of thymidylate synthase in cellular regulation. Adv Enzyme Regul 36:143-163.
2. Croen LA, Shaw GM, Jensvold NG, Harris JA. 1991. Birth defects monitoring in California: a resource for epidemiological research. Paediatr Perinat Epidemiol 5:423-427.
3. Horie N, Aiba H, Oguro K, et al. 1995. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct Funct 20:191-197.
4. Kaneda S, Takeishi K, Ayusawa D, et al. 1987. Role in translation of a triple tandemly repeated sequence in the 5′-untranslated region of human thymidylate synthase mRNA. Nucleic Acids Res 15:1259-1270.
5. Kawakami K, Omura K, Kanehira E, Watanabe Y. 1999. Polymorphic tandem repeats in the thymidylate synthase gene are associated with its protein expression in human gastrointestinal cancers. Anticancer Res 19:3249-3252.
6. Kawakami K, Salonga D, Park JM, et al. 2001. Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect translational efficiency but not its gene expression. Clin Cancer Res 7:4096-4101.
7. Kawate H, Landis DM, Loeb LA. 2002. Distribution of mutations in human thymidylate synthase yielding resistance to 5-fluorodeoxyuridine. J Biol Chem 277:36304-36311.
8. Liu J, Schmitz JC, Lin X, et al. 2002. Thymidylate synthase as a translational regulator of cellular gene expression. Biochim Biophys Acta 1587:174-182.
9. Marsh S, Collie-Duguid ESR, Li T, et al. 1999. Ethnic variation in the thymidylate synthase enhancer region polymorphism among Caucasian and Asian populations. Genomics 58:310-312.
10. Schulman J, Hahn J. 1993. Quality control of birth defect registry data: a case study. Public Health Rep 108:91-98.
11. Schwartz EI, Khalchitsky SE, Eisensmith RC, Woo SL. 1990. Polymerase chain reaction amplification from dried blood spots on Guthrie cards [letter]. Lancet 336:639-640.
12. Shaw GM, Rozen R, Finnell RH, et al. 1998. Maternal vitamin use, genetic variations of infant methylenetetrahydrofolate reductase and risk for spina bifida. Am J Epidemiol 148:30-37.
13. Takeishi K, Kaneda S, Ayusawa D, et al. 1989. Human thymidylate synthase gene: isolation of phage clones which cover a functionally active gene and structural analysis of the region upstream from the translation initiation codon. J Biochem 106:575-583.
14. Trinh BN, Ong C, Coetzee GA, et al. 2002. Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels. Hum Genet 111:299-302.
15. Ulrich CM, Bigler J, Bostick R, et al. 2002. Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas. Cancer Res 62:3361-3364.