Mol. Hum. Reprod. Advance Access originally published online on November 5, 2004
Molecular Human Reproduction 2005 11(1):11-14; doi:10.1093/molehr/gah131
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Angiotensin I-converting enzyme ACE 2350*G and ACE-240*T-related genotypes and alleles are associated with higher susceptibility to endometriosis
1Department of Obstetrics and Gynecology, 2Department of Pediatrics and Medical Genetics, 3Department of Family Medicine, China Medical University Hospital, Taichung, Taiwan, 4Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan and 5Taichung Health Care and Management University, Taichung, Taiwan, Republic of China
6 To whom correspondence should be addressed at: Department of Pediatrics and Medical Genetics, China Medical University Hospital, No.2 Yuh-Der Road, Taichung, Taiwan. Email: d0704{at}www.cmuh.org.tw
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.
Key words: angiotensin I-converting enzyme/ACE/endometriosis/polymorphism/SNP
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