Results
| PMID | 17186537 |
| Gene Name | ACE |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ACE I/D gene polymorphisms |
| Population size | 373 |
| Population details | 373 (125 endometriosis, 120 leiomyoma, 128 normal controls) |
| Sex | Female |
| Associated genes | ACE |
| Other associated phenotypes |
Endometriosis, leiomyoma |
|
Mol Reprod Dev. 2007 Jul;74(7):808-14. Hsieh, Yao-Yuan| Lee, Cheng-Chun| Chang, Chi-Chen| Wang, Yu-Kuo| Yeh, Lian-Shun| Lin, Chich-Sheng Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan. Endometriosis and leiomyoma display features similar to malignancy, requiring neovascularization to proliferation and growth. Altered vascular-related genes might be related to the development of endometriosis and leiomyoma. Polymorphisms of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) genes have been linked with some vascular diseases. This study investigates whether ACE I/D gene polymorphisms could be used as markers of susceptibility in endometriosis and leiomyoma. Women were divided into three groups: (1) endometriosis (n = 125); (2) leiomyoma (n = 120); (3) normal controls (n = 128). Genomic DNA was obtained from peripheral leukocyte. ACE I/D gene polymorphisms in intron 16 were amplified by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) Genotypes and allelic frequencies in both groups were compared. We observed the genotype distribution and allele frequency of ACE I/D gene polymorphisms in both groups were significantly different. Proportions of ACE*I homozygote/heterozygote/D homozygote in both groups were: (1) 50.4/24/25.6%; (2) 25/23.33/51.67%; (3) 10.2/29.7/60.1%. Proportions of I/D alleles in each group were: (1) 62.4/37.6%; (2) 36.7/63.3%; (3) 25/75%. We concluded that ACE*I/D gene polymorphisms are associated with endometriosis and leiomyoma susceptibilities. ACE*I-related genotypes and allele are strongly related to the occurrence of endometriosis and moderately related to the occurrence of leiomyoma. Mesh Terms: *Endometriosis/enzymology/genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| *Genotype| Humans| *Leiomyoma/enzymology/genetics| Peptidyl-Dipeptidase A/genetics/*metabolism| *Polymorphism, Genetic| Taiwan|DA 2007/08/29 09:00 |
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