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

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 infer...

Full description

Saved in:
Bibliographic Details
Published in:Fertility and sterility 2013-04, Vol.99 (5), p.1340-1345
Main Authors: Bilibio, João Paolo, M.Sc, Matte, Ursula, Ph.D, de Conto, Emily, Genro, Vanessa Krebs, Ph.D, Souza, Carlos Augusto, Ph.D, Cunha-Filho, João Sabino, Ph.D
Format: Article
Language:English
Subjects:
Adolescent
Adult
blood serum
Brazil
Case-Control Studies
confidence interval
cytosine
DNA
dopamine receptor D2
dopamine receptors
Endometriosis
Endometriosis - genetics
Endometriosis - metabolism
exons
Exons - genetics
Female
Gene Frequency
genes
Genotype
histidine
Humans
infertility
Infertility, Female - genetics
Infertility, Female - metabolism
Internal Medicine
Obstetrics and Gynecology
odds ratio
patients
polymerase chain reaction
polymorphism
Polymorphism, Single Nucleotide - genetics
prolactin
Prolactin - blood
proline
Receptors, Dopamine D2 - genetics
Receptors, Dopamine D2 - metabolism
Severity of Illness Index
Signal Transduction - physiology
Sterilization, Tubal
thymine
women
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0015-0282
1556-5653
DOI:10.1016/j.fertnstert.2012.11.036