Haplotype analysis of the matrix metalloproteinase-9 gene associated with advanced-stage endometriosis

Fertility and Sterility

Volumn 91, Issue 6, 2009, Pages 2324-2330

  Han, You Jung ^a   Kim, Han Na ^b   Yoon, Jin Kook ^c   Yi, Sun Young ^a   Moon, Hye Sung ^a   Ahn, Jung Ja ^a   Kim, Hyung Lae ^b   Chung, Hye Won ^a  

^a Ewha Womans University School of Medicine   (South Korea)

^b Biomedical Science Institute   (South Korea)

^c Seoul National University   (South Korea)

Author keywords

endometriosis; haplotype; MMP 9; single nucleotide polymorphism

Indexed keywords

GELATINASE B;

ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; ENDOMETRIOSIS; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; PATHOGENESIS; PELVIS SURGERY; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; DNA PRIMERS; ENDOMETRIOSIS; ENDOMETRIUM; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; MATRIX METALLOPROTEINASE 9; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REFERENCE VALUES;

EID: 67349179043     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.03.047     Document Type: Article

References (39)

1. Kennedy S.H. Is there a genetic basis to endometriosis?. Semin Reprod Endocrinol 15 (1997) 309-317
2. Georgiou I., Syrrou M., Bouba I., Dalkalitsis N., Paschopoulos M., Navrozoglou I., et al. Association of estrogen receptor gene polymorphisms with endometriosis. Fertil Steril 72 (1999) 164-166
3. Hur S.E., Lee S., Lee J.Y., Moon H.S., Kim H.L., and Chung H.W. Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis. J Hum Genet 52 (2007) 703-711
4. Chang C.C., Hsieh Y.Y., Tsai F.J., Tsai C.H., Tsai H.D., and Lin C.C. The proline form of p53 codon 72 polymorphism is associated with endometriosis. Fertil Steril 77 (2002) 43-45
5. Wieser F., Schneeberger C., Tong D., Tempfer C., Huber J.C., and Wenzl R. PROGINS receptor gene polymorphism is associated with endometriosis. Fertil Steril 77 (2002) 309-312
6. Hsieh Y.Y., Chang C.C., Tsai F.J., Wu J.Y., Tsai C.H., and Tsai H.D. Androgen receptor trinucleotide polymorphism in endometriosis. Fertil Steril 76 (2001) 412-413
7. Baranova H., Bothorishvilli R., Canis M., Albuisson E., Perriot S., Glowaczowr E., et al. Glutathione S-transferase M1 gene polymorphism and susceptibility to endometriosis in a French population. Mol Hum Reprod 3 (1997) 775-780
8. Hur S.E., Lee J.Y., Moon H.S., and Chung H.W. Polymorphisms of the genes encoding the GSTM1, GSTT1 and GSTP1 in Korean women: no association with endometriosis. Mol Hum Reprod 11 (2005) 15-19
9. Chung H.W., Wen Y., Chun S.H., Nezhat C., Woo B.H., and Lake Polan M. Matrix metalloproteinase-9 and tissue inhibitor of metalloproteinase-3 mRNA expression in ectopic and eutopic endometrium in women with endometriosis: a rationale for endometriotic invasiveness. Fertil Steril 75 (2001) 152-159
10. Hulboy D.L., Rudolph L.A., and Matrisian L.M. Matrix metalloproteinase as mediators of reproductive function. Mol Hum Reprod 3 (1997) 27-45
11. Librach C.L., Feigenbaum S.L., Bass K.E., Cui T.Y., Verastas N., Sadovsky Y., et al. Interleukin-1 b regulates human cytotrophoblast metalloproteinase activity and invasion in vitro. J Biol Chem 269 (1994) 17125-17131
12. Behrendtsen O., Alexander C.M., and Werb Z. Metalloproteinases mediate extracellular matrix degradation by cells from mouse blastocyst outgrowths. Development 114 (1992) 447-456
13. Fishman D.A., Bafetti L.M., Banionis S., Kearns A.S., Chilukuri K., and Stack M.S. Production of extracellular matrix-degrading proteinases by primary cultures of human epithelial ovarian carcinoma cells. Cancer 75 (1997) 1457-1463
14. Zhang B., Henney A., Eriksson P., Hamsten A., Watkins H., and Ye S. Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2-13.1. Hum Genet 105 (1999) 418-423
15. Hirakawa S., Lange E.M., Colicigno C.J., Freedman B.I., Rich S.S., and Bowden D.W. Evaluation of genetic variation and association in the matrix metalloproteinase 9 (MMP-9) gene in ESRD patients. Am J Kidney Dis 42 (2003) 133-142
16. Allan J.A., Docherty A.J., Barker P.J., Huskisson N.S., Reynolds J.J., and Murphy G. Binding of gelatinases A and B to type-I collagen and other matrix components. Biochem J 309 (1998) 299-306
17. O'Farrell T.J., and Pourmotabbed T. Identification of structural elements important for matrix metalloproteinase type V collagenolytic activity as revealed by chimeric enzymes. Role of fibronectin-like domain and active site of gelatinase B. J Biol Chem 275 (2000) 27964-27972
18. Li J., Brick P., O'Hare M.C., Skarzynski T., Lloyd L.F., Curry V.A., et al. Structure of full-length porcine synovial collagenase reveals a C-terminal domain containing a calcium-linked, four-bladed h-propeller. Structure 3 (1995) 541-549
19. Murphy G., and Knauper V. Relating matrix metalloproteinase structure to function: why the "hemopexin" domain?. Matrix Biol 15 (1997) 11-18
20. Shan K., Lian-Fu Z., Hui D., Wei G., Na W., Xia J., et al. Polymorphisms in the promoter regions of the matrix metalloproteinases-7, -9 and the risk of endometriosis and adenomyosis in China. Mol Hum Reprod 12 (2006) 35-39
21. The American Fertility Society. Revised American Fertility Society classification of endometriosis: 1985. Fertil Steril 43 (1985) 351-352
22. Ober C., Leavitt S.A., Tsalenko A., Howard T.D., Hoki D.M., Daniel R., et al. Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet 66 (2000) 517-526
23. Bottini N., Borgiani P., Otsu A., Saccucci P., Stefanini L., Greco E., et al. IL-4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two-locus haplotypes are more informative than individual SNPs. Clin Genet 61 (2002) 288-292
24. Fang S., Jin X., Wang R., Li Y., Guo W., Wang N., et al. Polymorphisms in the MMP1 and MMP3 promoter and non-small cell lung carcinoma in North China. Carcinogenesis 26 (2005) 481-486
25. Su L., Zhou W., Park S., Wain J.C., Lynch T.J., Liu G., et al. Matrix metalloproteinase-1 promoter polymorphism and lung cancer risk. Cancer Epidemiol Biomarkers Prev 14 (2005) 567-570
26. Zinzindohoué F., Lecomte T., Ferraz J.M., Houllier A.M., Cugnenc P.H., Berger A., et al. Prognostic significance of MMP-1 and MMP-3 functional promoter polymorphisms in colorectal cancer. Clin Cancer Res 11 (2005) 594-599
27. Yu C., Zhou Y., Miao X., Xiong P., Tan W., and Lin D. Functional haplotypes in the promoter of matrix metalloproteinase-2 predict risk of the occurrence and metastasis of esophageal cancer. Cancer Res 64 (2004) 7622-7628
28. Ju W., Kang S., Kim J.W., Park N.H., Song Y.S., Kang S.B., et al. Promoter polymorphism in the matrix metalloproteinase-1 and risk of cervical cancer in Korean women. Cancer Lett 217 (2005) 191-196
29. Zhang B., Ye S., Herrmann S.M., Eriksson P., de Maat M., Evans A., et al. Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation 99 (1999) 1788-1794
30. Matsumura S., Oue N., Nakayama H., Kitadai Y., Yoshida K., Yamaguchi Y., et al. A single nucleotide polymorphism in the MMP-9 promoter affects tumor progression and invasive phenotype of gastric cancer. J Cancer Res Clin Oncol 131 (2005) 19-25
31. Hu Z., Huo X., Lu D., Qian J., Zhou J., Chen Y., et al. Functional polymorphisms of matrix metalloproteinase-9 are associated with risk of occurrence and metastasis of lung cancer. Clin Cancer Res 11 (2005) 5433-5439
32. Shipley J.M., Doyle G.A., Fliszar C.J., Ye Q.Z., Johnson L.L., Shapiro S.D., et al. The structural basis for the elastolytic activity of the 92-kDa and 72-kDa gelatinases. Role of the fibronectin type II-like repeats. J Biol Chem 271 (1996) 4335-4341
33. Gohlke U., Gomis-Ruth F.X., Crabbe T., Murphy G., Docherty A.J., and Bode W. The C-terminal (haemopexinlike) domain structure of human gelatinase A (MMP2): structural implications for its function. FEBS Lett 378 (1996) 126-130
34. Cao J., Sato H., Takino T., and Seiki M. The C-terminal region of membrane type matrix metalloproteinase is a functional transmembrane domain required for progelatinase A activation. J Biol Chem 270 (1995) 801-805
35. Butler G.S., Butler M.J., Atkinson S.J., Will H., Tamura T., Schade van Westrum S., et al. The TIMP2 membrane type 1 metalloproteinase "receptor" regulates the concentration and efficient activation of progelatinase A. A kinetic study. J Biol Chem 273 (1998) 871-880
36. Nakashima K., Hirota T., Obara K., Shimizu M., Doi S., Fujita K., et al. A functional polymorphism in MMP-9 is associated with childhood atopic asthma. Biochem Biophys Res Commun 344 (2006) 300-307
37. Bode W., Fernandez-Catalan C., Tschesche H., Grams F., Nagase H., and Maskos K. Structural properties of matrix metalloproteinases. Cell Mol Life Sci 55 (1999) 639-652
38. Cotignola J., Reva B., Mitra N., Ishill N., Chuai S., Patel A., et al. Matrix metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. BMC Med Genet 8 (2007) 10
39. Morgan A.R., Zhang B., Tapper W., Collins A., and Ye S. Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease. J Mol Med 81 (2003) 321-326