Results
| PMID | 24571615 |
| Gene Name | AGTR1 |
| Condition | Endometriosis |
| Association |
Associated with endometriosis |
| Mutation | A2350G polymorphism, I/D ACE , A1166C AT1 |
| Population size | 368 |
| Population details | 368 (241 endometriosis treated due to infertility, 127 control group (without endometriosis)) |
| Age | Endometriosis: 17–52yrs, Controls: 20–66 yrs) |
| Sex | Female |
| Associated genes | ACE, AT1 |
| Other associated phenotypes |
Endometriosis |
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DNA Cell Biol. 2014 May;33(5):328-35. doi: 10.1089/dna.2013.2255. Epub 2014 Feb Kowalczynska, Liliana J| Ferenc, Tomasz| Wojciechowski, Michal| Mordalska, Anna| Pogoda, Krzysztof| Malinowski, Andrzej 1 Department of Biology and Medical Genetics, Medical University of Lodz , Lodz, Poland . To analyze the polymorphisms of angiotensin I converting enzyme (ACE) gene (insertion/deletion [I/D], A2350G) and angiotensin II type 1 receptor gene (A1166C) in women with endometriosis and to determine the correlation of the identified genotypes with the severity of the disease. Additionally, to estimate the prognostic value of the polymorphisms in patients with endometriosis treated due to infertility. The study group included 241 women, the control group (without endometriosis)-127. The molecular analysis was performed by polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism technique. For I/D ACE and A1166C AT1 polymorphisms no significant differences were observed between the study and control groups and between the severity grades of the disease (p>0.05). For A2350G ACE polymorphism the frequency of genotypes for the study and control groups respectively was the following: AA-31.54%, AG-54.36%, GG-14.11% and AA-55.12%, AG-36.22%, GG-8.66% (x(2)=19.36, p<0.0001). Statistically significant differences were found between the frequency of A and G alleles between both groups (x(2)=15.16, p=0.0001), but not when individual grades of the disease severity were compared. There was no association between the investigated polymorphisms and the effect of infertility treatment. A2350G polymorphism (allele G, AG genotype) of ACE gene seems to be associated with the development of endometriosis. Mesh Terms: Adolescent| Adult| Aged| Case-Control Studies| Endometriosis/*genetics| Female| Humans| Middle Aged| Peptidyl-Dipeptidase A/*genetics| Poland| *Polymorphism, Single Nucleotide| Receptor, Angiotensin, Type 1/*genetics| Renin-Angiotensin System/ |
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