Results
| PMID | 23260856 |
| Gene Name | DRD2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | Polymorphism 1 occurs in nucleotide 3420 (cytosine to thymine, 313 histidine), and polymorphism 2 occurs in nucleotide 3438 (cytosine to thymine, 319 proline) |
| Population size | 107 |
| Population details | 107 women with infertility caused by peritoneal endometriosis or patients enrolled for tubal ligation. |
| Age | >=18 years |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | VEGF, D2, VEGFR-2 |
| Other associated phenotypes |
Endometriosis-associated infertility |
|
Fertil Steril. 2013 Apr;99(5):1340-5. doi: 10.1016/j.fertnstert.2012.11.036. Epub Bilibio, Joao Paolo| Matte, Ursula| de Conto, Emily| Genro, Vanessa Krebs| Souza, Carlos Augusto| Cunha-Filho, Joao Sabino Department of Obstetrics and Gynecology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. joaopaolobilibio@yahoo.com.br OBJECTIVE: To compare the prevalence of dopamine receptor D2 polymorphisms in patients with peritoneal endometriosis and in healthy control subjects. DESIGN: Case-control study. SETTING: University hospital. PATIENT(S): One hundred seven women aged >/=18 years who were enrolled when seeking care for infertility caused by peritoneal endometriosis or for tubal ligation. INTERVENTION(S): We performed DNA extraction of peripheral blood, followed by polymerase chain reaction to confirm single-strand polymorphisms and to sequence two polymorphisms. MAIN OUTCOME MEASURE(S): We sequenced two polymorphisms in exon 7 of the dopamine receptor D2 (DRD2) gene. Polymorphism 1 occurs in nucleotide 3420 (cytosine to thymine, 313 histidine), and polymorphism 2 occurs in nucleotide 3438 (cytosine to thymine, 319 proline). RESULT(S): The frequency of the DRD2 polymorphism 2 was increased in subjects with peritoneal moderate/severe endometriosis. Analysis of the DRD2 genotypes demonstrates an odds ratio of 2.98 (95% confidence interval 1.47-6.04) for polymorphism 2 in peritoneal moderate/severe endometriosis. CONCLUSION(S): Our results revealed that an excess of DRD2 polymorphism 2 was found in exon 7 in women with peritoneal moderate/severe endometriosis. The presence of polymorphism 2 could cause a defect in a post-receptor signaling mechanism, resulting in a mild increase in serum prolactin levels. Thus, the potential angiogenic role of prolactin may play a role in the implantation of ectopic endometriosis tissue. Mesh Terms: Adolescent| Adult| Brazil| Case-Control Studies| Endometriosis/*genetics/metabolism| Exons/genetics| Female| Gene Frequency| Genotype| Humans| Infertility, Female/*genetics/metabolism| Polymorphism, Single Nucleotide/*genetics| Prolactin/blood |
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