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Fertil Steril. 2013 Apr;99(5):1340-5. doi: 10.1016/j.fertnstert.2012.11.036. Epub 2012 Dec 20.

Dopamine receptor D2 genotype (3438) is associated with moderate/severe endometriosis in infertile women in Brazil.

Author information

1
Department of Obstetrics and Gynecology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. joaopaolobilibio@yahoo.com.br

Abstract

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.

[Indexed for MEDLINE]

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