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Mol. Hum. Reprod. Advance Access published online on November 5, 2004
Molecular Human Reproduction, doi:10.1093/molehr/gah131
© 2004 by Oxford University Press
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Received September 19, 2004
Revised October 18, 2004
Accepted October 22, 2004

Article

Angiotensin I-converting enzyme ACE 2350*G and ACE-240*T-related genotypes and alleles are associated with higher susceptibility to endometriosis

Yao-Yuan Hsieh 1, Chi-Chen Chang 2, Fuu-Jen Tsai 3*, Chin-Moo Hsu 3, Cheng-Chieh Lin 4, and Chang-Hai Tsai 5

1 Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan; Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan
2 Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan
3 Department of Pediatrics and Medical Genetics, China Medical University Hospital, Taichung, Taiwan
4 Department of Family Medicine, China Medical University Hospital, Taichung, Taiwan
5 Department of Pediatrics and Medical Genetics, China Medical University Hospital, Taichung, Taiwan; Taichung Health Care and Management University, Taichung, Taiwan, Republic of China

* To whom correspondence should be addressed.
Fuu-Jen Tsai, E-mail: d0704{at}www.cmuh.org.tw


  Abstract

Endometriosis displays features similar to malignancy, ranging from neovascularization to local invasion and aggressive spread to distant organs. The altered vascular-related genes might be related to the development of endometriosis. This study investigates whether angiotensin I-converting enzyme (ACE) *A2350G and A-240T gene polymorphisms could be used as markers of susceptibility in endometriosis. Women were divided into two groups: (1) endometriosis group (n=150) and (2) non-endometriosis group (n=159). Genomic DNA was obtained from peripheral leukocytes. ACE A2350G and A-240T gene polymorphisms were amplified by PCR and detected after restriction enzyme digestion with BstUI and XbaI. Genotypes and allelic frequencies in both groups were compared. We observed that genotype distribution and allele frequency of ACE 2350 and ACE-240 gene polymorphisms in both groups were significantly different. Proportions of ACE 2350*A homozygote/heterozygote/G homozygote in both groups were: (1) 66.7/29.3/4% and (2) 96.2/3.1/0.7%. Proportions of ACE-240*A homozygote/heterozygote/T homozygote in both groups were: (1) 43.3/46/10.7% and (2) 62.9/35.8/1.3%. We concluded that ACE 2350*G and ACE-240*T-related genotypes and alleles are associated with higher susceptibility to endometriosis. ACE A2350G and A-240T gene polymorphisms might be associated with endometriosis development.

Keywords: angiotensin I-converting enzyme; ACE; endometriosis; polymorphism; SNP.
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C.B. Tempfer, M. Simoni, B. Destenaves, and B.C.J.M. Fauser
Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis
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[Abstract] [Full Text] [PDF]


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