XRCC4 codon 247*A and XRCC4 promoter -1394*T related genotypes but not XRCC4 intron 3 gene polymorphism are associated with higher susceptibility for endometriosis

Molecular Reproduction and Development

Volumn 75, Issue 5, 2008, Pages 946-951

  Hsieh, Yao Yuan ^a,b   Bau, Da Tian ^a,c   Chang, Chi Chen ^a   Tsai, Chang Hai ^a,d   Chen, Chih Ping ^e   Tsai, Fuu Jen ^a,c  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL CHIAO TUNG UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d ASIA UNIVERSITY   (Taiwan)

^e MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Endometriosis; Gene repair; Polymorphism; SNP; XRCC4

Indexed keywords

NUCLEIC ACID BINDING PROTEIN; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG; X RAY REPAIR CROSS COMPLEMENTING GROUP 4 PROTEIN;

ARTICLE; CODON; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; ELECTROPHORESIS; ENDOMETRIOSIS; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DISRUPTION; GENE FREQUENCY; GENE INSERTION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; MAJOR CLINICAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CODON; DNA DAMAGE; DNA REPAIR; DNA-BINDING PROTEINS; ENDOMETRIOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INDEL MUTATION; INTRONS; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); TAIWAN;

EID: 41149174358     PISSN: 1040452X     EISSN: 10982795     Source Type: Journal    
DOI: 10.1002/mrd.20829     Document Type: Article

References (34)

1. Ali-Fehmi R, Khalifeh I, Bandyopadhyay S, Lawrence WD, Silva E, Liao D, Sarkar FH, Munkarah AR. 2006. Patterns of loss of heterozygosity at 10q23.3 and microsatellite instability in endometriosis, atypical endometriosis, and ovarian carcinoma arising in association with endometriosis. Int J Gynecol Pathol 25:223-229.
2. Allen-Brady K, Cannon-Albright LA, Neuhausen SL, Camp NJ. 2006. A role for XRCC4 in age at diagnosis and breast cancer risk. Cancer Epidemiol Biomarkers Prev 15:1306-1310.
3. Berwick M, Vineis P. 2000. Markers of DNA repair and susceptibility to cancer in humans: An epidemiologic review. J Natl Cancer Inst 92:874-897.
4. Bu D, Tomlinson G, Lewis CM, Zhang C, Kildebeck E, Euhus DM. 2006. An intronic polymorphism associated with increased XRCC1 expression, reduced apoptosis and familial breast cancer. Breast Cancer Res Treat 99:257-265.
5. Elledge SJ, Amon A. 2002. The BRCA1 suppressor hypothesis: An explanation for the tissue-specific tumor development in BRCA1 patients. Cancer Cell 1:129-132.
6. Ferrero S, Ragni N, Remorgida V. 2006. Antiangiogenic therapies in endometriosis. Br J Pharmacol 149:133-135.
7. Fukunaga M, Ushigome S. 1998. Epithelial metaplastic changes in ovarian endometriosis. Mod Pathol 11:784-788.
8. Garcia-Closas M, Egan KM, Newcomb PA, Brinton LA, Titus-Ernstoff L, Chanock S, Welch R, Lissowska J, Peplonska B, Szeszenia-Dabrowska N, Zatonski W, Bardin-Mikolajczak A, Struewing JP. 2006. Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: Two population-based studies in USA and Poland, and meta-analyses. Hum Genet 119:376-388.
9. Goumenou AG, Arvanitis DA, Matalliotakis IM, Koumantakis EE, Spandidos DA. 2000. Loss of heterozygosity in adenomyosis on hMSH2, hMLH1, p16Ink4 and GALT loci. Int J Mol Med 6:667-671.
10. Hanahan D, Weinberg RA. 2000. The hallmarks of cancer. Cell 100:57-70.
11. Jiao L, Bondy ML, Hassan MM, Wolff RA, Evans DB, Abbruzzese JL, Li D. 2006. Selected polymorphisms of DNA repair genes and risk of pancreatic cancer. Cancer Detect Prev 30:284-291.
12. Lee KM, Choi JY, Kang C, Kang CP, Park SK, Cho H, Cho DY, Yoo KY, Noh DY, Ahn SH, Park CG, Wei Q, Kang D. 2005. Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk. Clin Cancer Res 11:4620-4626.
13. Li Y, Marion MJ, Zipprich J, Freyer G, Santella RM, Kanki C, Brandt-Rauf PW. 2006. The role of XRCC1 polymorphisms in base excision repair of etheno-DNA adducts in French vinyl chloride workers. Int J Occup Med Environ Health 19:45-52.
14. Lindahl T, Wood RD. 1999. Quality control by DNA repair. Science (Washington DC) 286:1897-1905.
15. Lindahl T, Karran P, Wood R. 1997. DNA excision repair pathways. Curr Opin Genet Dev 7:158-169.
16. Marth G, Yeh R, Minton M, Donaldson R, Li Q, Duan S, Davenport R, Miller RD, Kwok PY. 2001. Single-nucleotide polymorphisms in the public domain: How useful are they? Nat Genet 27:371-372.
17. Masson M, Niedergang C, Schreiber V, Muller S, DeMarcia JM, DeMurcia G. 1998. XRCC1 is specifically associated with PARP polymerase and negatively regulates its activity following DNA damage. Mol Cell Biol 18:3563-3571.
18. Mohrenweiser H, Jones I. 1998. Variation in DNA repair is a factor in cancer susceptibility: A paradigm for the promises and perils of individual and population risk estimation? Mutat Res 400:15-24.
19. Nash R, Caldecott K, Barnes D, Lindahl T. 1997. XRCC1 protein interacts with one of two distinct forms of DNA ligase III. Biochemistry 36:5207-5211.
20. Oliver F, DeMurcia JM, DeMurcia G. 1999. Poly (ADP-ribose) polymerase in the cellular response to DNA damage, apoptosis, and disease. Am J Hum Genet 64:1282-1288.
21. Prowse AH, Manek S, Varma R, Liu J, Godwin AK, Maher ER, Tomlinson IP, Kennedy SH. 2006. Molecular genetic evidence that endometriosis is a precursor of ovarian cancer. Int J Cancer 119:556-562.
22. Qiao Y, Spitz MR, Guo Z, Hadeyati M, Grossman L, Kraemer KH, Wei Q. 2002. Rapid assessment of repair of ultraviolet DNA damage with a modified host-cell reactivation assay using a luciferase reporter gene and correlation with polymorphisms of DNA repair genes in normal human lymphocytes. Mutat Res 509: 165-174.
23. Qu T, Morimoto K. 2005. X-ray repair cross-complementing group 1 polymorphisms and cancer risks in Asian populations: A mini review. Cancer Detect Prev 29:215-220.
24. Revised American Fertility Society classification of endometriosis. 1985. Fertil Steril 43:351-352.
25. Relton CL, Daniel CP, Hammal DM, Parker L, Janet Tawn E, Burn J. 2004. DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. Mutat Res 545:49-57.
26. Renner SP, Strick R, Oppelt P, Fasching PA, Engel S, Baumann R, Beckmann MW, Strissel PL. 2006. Evaluation of clinical parameters and estrogen receptor alpha gene polymorphisms for patients with endometriosis. Reproduction 131:153-161.
27. Rudd MF, Webb EL, Matakidou A, Sellick GS, Williams RD, Bridle H, Eisen T, Houlston RS. 2006. GELCAPS consortium. Variants in the GH-IGF axis confer susceptibility to lung cancer. Genome Res 16:693-701.
28. Seeberg E, Eide L, Bjoras M. 1995. The base excision repair pathway. Trends Biochem Sci 20:391-397.
29. Shen MR, Zdzienicka MZ, Mohrenweiser H, Thompson LH, Thelen MP. 1998. Mutations in hamster single-strand break repair gene XRCC1 causing defective DNA repair. Nucleic Acids Res 26:1032-1037.
30. Shen M, Lan Q, Zhang L, Chanock S, Li G, Vermeulen R, Rappaport SM, Guo W, Hayes RB, Linet M, Yin S, Yeager M, Welch R, Forrest MS, Rothman N, Smith MT. 2006. Polymorphisms in genes involved in DNA double-strand break repair pathway and susceptibility to benzene-induced hematotoxicity. Carcinogenesis 27:2083-2089.
31. Vigano P, Gaffuri B, Somigliana E, Busacca M, Di Blasio AM, Vignali M. 1998. Expression of intercellular adhesion molecule (ICAM)-1 mRNA and protein is enhanced in endometriosis versus endometrial stromal cells in culture. Mol Hum Reprod 4:1150-1156.
32. Wilding CS, Relton CL, Rees GS, Tarone RE, Whitehouse CA, Tawn EJ. 2005. DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers. Mutat Res 570:137-145.
33. Wilson D, Thompson L. 1997. Life without DNA repair. Proc Natl Acad Sci USA 94:12754-12757.
34. Zdzienicka MZ, van der Schans GP, Natarajan AT, Thompson LH, Neuteboom I, Simons JW. 1992. A Chinese hamster ovary cell mutant (EM-C11) with sensitivity to simple alkylating agents and a very high level of sister chromatid exchanges. Mutagenesis 7:265-269.