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

Bianca Bianco, Tatiana G Lerner, Lerner TG, Tatiana Goberstein Lerner, Trevisan CM, Camila Martins Trevisan, Viviane Cavalcanti, Cavalcanti V, Denise M Christofolini, Denise Maria Christofolini, Caio P Barbosa, Caio Parente Barbosa
Human immunology · 2012 · vol. 73(11) , pp. 1190–1193 · doi:10.1016/j.humimm.2012.08.008 · PMID:22902396 · W1982302757
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This study investigated the association between a specific nuclear factor-kB promoter polymorphism and endometriosis and infertility.

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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.

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Genetic Predisposition to Disease Infertility, Female NF-kappa B p50 Subunit Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Promoter Regions, Genetic Promoter Regions, Genetic Adult Adult Alleles Alleles Endometriosis Endometriosis Female Female Genotype Genotype Humans

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