Haplotype analysis of the matrix metalloproteinase-9 gene associated with advanced-stage endometriosis.
OBJECTIVE
To investigate whether the -1562C>T, R279Q, P574R, and R668Q polymorphisms of the matrix metalloproteinase-9 (MMP-9) gene are related to endometriosis.


METHODS
Case-control study.


METHODS
University-based hospital in Korea.


METHODS
Patients with endometriosis stage III/IV (n = 225) who underwent pelvic surgery and controls (n = 198) with no endometriosis in a Korean population.


METHODS
Peripheral blood samples were collected by venipuncture.


METHODS
Frequencies of genotypes and haplotypes were compared with the risk of endometriosis including -1562C>T, R279Q, P574R, and R668Q polymorphisms of MMP-9.


RESULTS
In the two-locus haplotype analyses using the four single nucleotide polymorphisms (SNPs), an increase in the distribution of the R279Q/P574R (2678G>A/4859C>G) (AC haplotype: odds ratio [OR] = 3.180, 95% confidence interval [CI] = 1.956-5.170; GG haplotype: OR = 4.374, 95% CI = 2.376-8.053) and -1562C>T/R668Q (-1562C>T/5546G>A) (CA haplotype: OR = 3.280, 95% CI = 1.406-7.653) haplotypes was significantly associated with endometriosis. By contrast, the risk of endometriosis was not associated with the individual SNPs studied.


CONCLUSIONS
These findings suggest that haplotype analysis was more informative than SNP analysis. The haplotypes in the MMP-9 gene may correlate with the progression of endometriosis, and further study of these variations might improve our understanding of the pathogenesis of endometriosis.
Han
You Jung
YJ
Department of Obstetrics and Gynecology, School of Medicine, Ewha Womans University, Seoul, South Korea.
Kim
Han-Na
HN
Yoon
Jin-Kook
JK
Yi
Sun Young
SY
Moon
Hye-Sung
HS
Ahn
Jung Ja
JJ
Kim
Hyung-Lae
HL
Chung
Hye Won
HW
D019943:Amino Acid Substitution; D017931:DNA Primers; D004715:Endometriosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004717:Endometrium / Q000201:enzymology; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values
D017931:DNA Primers; D020780:Matrix Metalloproteinase 9