| Full text | |
| Author(s): |
Bianco, Bianca
[1]
;
Lerner, Tatiana G.
[1]
;
Trevisan, Camila Martins
[1]
;
Cavalcanti, Viviane
[1]
;
Christofolini, Denise M.
[1]
;
Barbosa, Caio P.
[1]
Total Authors: 6
|
| Affiliation: | [1] Fac Med ABC, Dept Gynecol & Obstet, Human Reprod & Genet Ctr, Santo Andre, SP - Brazil
Total Affiliations: 1
|
| Document type: | Journal article |
| Source: | HUMAN IMMUNOLOGY; v. 73, n. 11, p. 1190-1193, NOV 2012. |
| Web of Science Citations: | 12 |
| Abstract | |
Introduction: An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Nuclear factor-kB (NF-kB) plays a key role in the immune and inflammatory response and modulates cell proliferation, apoptosis, adhesion, invasion, and angiogenesis in many cell types involved in the development of endometriosis. We hypothesized a possible relationship between the NFKB1 promoter regulatory polymorphism and endometriosis and/or infertility. Methods: A genetic association study comprising 172 infertile women with endometriosis, 77 women with idiopathic infertility and 189 controls was performed. Detection of the -94 insertion/deletion ATTG (rs28362491) polymorphism in the NFKB1 gene was done using the RFLP-PCR (Restriction Fragment Length Polymorphism-Polymerase Chain Reaction) technique. The results were statistically analyzed, and a p-value <0.05 was considered significant. Results: Single-marker analysis revealed a significant association between the -94 insertion/deletion ATTG polymorphism and endometriosis-related infertility (p = 0.014, OR = 1.47, 95% CI = 1.09-1.97), especially in moderate/severe disease cases. Considering the idiopathic infertility group, a significant association was also found (p = < 0.001, OR = 2.01, 95% CI = 1.35-2.98), suggesting that the -94 insertion/deletion ATTG polymorphism is associated with endometriosis and/or infertility. Conclusion: In the population sample studied, the -94 insertion/deletion ATTG polymorphism in the NFKB1 gene was positively associated both with moderate/severe endometriosis and idiopathic infertility. (C) 2012 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. (AU) | |
| FAPESP's process: | 10/01104-6 - Study of Fok1 polymorphism of VDR gene in women with endometriosis |
| Grantee: | Tatiana Goberstein Lerner |
| Support Opportunities: | Scholarships in Brazil - Scientific Initiation |