Results
| PMID | 15531592 |
| Gene Name | ACE |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ACE A2350G, A-240T |
| Population size | 309 |
| Population details | 309 (150 endometriosis cases, 159 in the non-endometriosis cases) |
| Sex | Female |
| Associated genes | ACE |
| Other associated phenotypes |
Endometriosis |
|
Mol Hum Reprod. 2005 Jan;11(1):11-4. Epub 2004 Nov 5. Hsieh, Yao-Yuan| Chang, Chi-Chen| Tsai, Fuu-Jen| Hsu, Chin-Moo| Lin, Cheng-Chieh| Tsai, Chang-Hai Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan, Republic of China. 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. Mesh Terms: Adult| Alleles| Endometriosis/*genetics| Female| Gene Frequency| Genetic Markers| *Genetic Predisposition to Disease| Genotype| Humans| Peptidyl-Dipeptidase A/*genetics| *Polymorphism, Single Nucleotide|DA 2005/09/02 09:00 |
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