Results
| PMID | 22902396 |
| Gene Name | NFKB1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | rs28362491 (-94 insertion/deletion ATTG polymorphism) |
| Population size | 438 |
| Population details | 438 (172 infertile women with endometriosis, 77 women with idiopathic infertility and 189 controls) |
| Sex | Female |
| Infertility type | Female infertility |
| Other associated phenotypes |
Female infertility, Endometriosis |
|
Hum Immunol. 2012 Nov;73(11):1190-3. doi: 10.1016/j.humimm.2012.08.008. Epub 2012 Bianco, Bianca| Lerner, Tatiana G| Trevisan, Camila Martins| Cavalcanti, Viviane| Christofolini, Denise M| Barbosa, Caio P Human Reproduction and Genetics Center, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo Andre/SP, Brazil. bianca.bianco@hotmail.com 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. Mesh Terms: Adult| Alleles| Endometriosis/*genetics| Female| *Genetic Predisposition to Disease| Genotype| Humans| Infertility, Female/*genetics| NF-kappa B p50 Subunit/*genetics| *Polymorphism, Single Nucleotide| *Promoter Regions, Genetic|DA 2013/05/10 06 |
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