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

Autor(es)

Bianco, Bianca ^[1] ; Lerner, Tatiana G. ^[1] ; Trevisan, Camila Martins ^[1] ; Cavalcanti, Viviane ^[1] ; Christofolini, Denise M. ^[1] ; Barbosa, Caio P. ^[1]

Afiliação do(s) autor(es)

^[1] Fac Med ABC, Dept Gynecol & Obstet, Human Reprod & Genet Ctr, Santo Andre, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: HUMAN IMMUNOLOGY; v. 73, n. 11, p. 1190-1193, NOV 2012.
• Citações Web of Science: 12

Resumo

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)

• Processo FAPESP: 10/01104-6 - Estudo do polimorfismo Fok1 do gene VDR em mulheres portadoras de endometriose
• Beneficiário: Tatiana Goberstein Lerner
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica