Dopamine receptor D2 genotype 3438 is associated with moderate severe endometriosis in infertile women in Brazil

Capsule:
The frequency of the dopamine receptor D2 polymorphism 2 was increased in subjects with peritoneal moderate/severe endometriosis.

Authors:
João Paolo Bilibio, M.Sc., Ursula Matte, Ph.D., Emily de Conto, XXX, Vanessa Krebs Genro, Ph.D., Carlos Augusto Souza, Ph.D., João Sabino Cunha-Filho, Ph.D.

Volume 99, Issue 5, Pages 1340-1345, April 2013

Abstract:

Objective:
To compare the prevalence of dopamine receptor D2 polymorphisms in patients with peritoneal endometriosis and in healthy controls.

Design:
Case-control study.

Setting:
University hospital.

Patients:
One hundred and seven women aged ≥ 18 years who were enrolled when seeking care for infertility caused by peritoneal endometriosis or for tubal ligation.

Interventions:
We performed DNA extraction of peripheral blood, followed by polymerase chain reaction to confirm single-strand polymorphisms and to sequence two polymorphisms.

Main Outcome Measures:
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).

Results:
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 (1.47-6.04; 95% CI) for polymorphism 2 in peritoneal moderate/severe endometriosis.

Conclusions:
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 signalling 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.

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