Clinical characteristics of TIMP2, MMP2, and MMP9 gene polymorphisms in colorectal cancer.
OBJECTIVE
Genetic variations and the expression profile of matrix metalloproteinases (MMP) and tissue inhibitors of metalloproteinases (TIMP) are involved in the invasion and metastasis of colorectal cancer.


METHODS
The gene profiles of TIMP2 and MMP were assayed from 333 colorectal cancer using polymerase chain reaction-restriction fragment length polymorphism.


RESULTS
TIMP2-418*G/*G, TIMP2 303*G/*G and MMP9-1562*C/*C were more frequent in patients than in controls (P = 0.020, P < 0.0001 and P < 0.044, respectively). Frequency of TIMP2-418*G/*G was higher in patients with metastasis than in those without metastasis, and that of TIMP2 303*G/*G was higher in patients with rectal cancer than in those with colon cancer (P = 0.008 and P =0.022, respectively). TIMP2-303*A/*A and MMP2-1575*G/*G were less frequent in patients than in controls (P = 0.001 and P = 0.005, respectively). The TIMP2-418*G303*G haplotype was more frequent (P < 0.0001) and MMP2-1575*G-735*C haplotype was less frequent in patients than in controls (P= 0.005).


CONCLUSIONS
Specific single-nucleotide polymorphism in TIMP2 and MMP appeared to be associated with tumorigenesis and biological behavior in colorectal cancer, which is expected be further verified in a larger cohort in the future.
Department of Biology, Sungshin Women's University, Seoul, Korea. kspark@sungshin.ac.kr
Kyung Sook
KS
Park
Seon Jeong
SJ
Kim
Kyung Ho
KH
Kim
Jin Cheon
JC
Kim
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D015179:Colorectal Neoplasms / Q000201:enzymology / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D008875:Middle Aged; D009361:Neoplasm Invasiveness; D009367:Neoplasm Staging; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D018570:Risk Assessment; D012307:Risk Factors; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*
D019716:Tissue Inhibitor of Metalloproteinase-2; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2; D020780:Matrix Metalloproteinase 9