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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

The nuclear factor-kB functional promoter polymorphism is associated with endometriosis and infertility

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