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

Bianco, Bianca; Lerner, Tatiana Goberstein; Trevisan, Camila Martins; Cavalcanti, Viviane; Christofolini, Denise Maria; Barbosa, Caio Parente

doi:10.1016/j.humimm.2012.08.008

Cited by 22 publications

(10 citation statements)

References 35 publications

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“…A functional polymorphism, -94 ATTG insertion/deletion (ins/del) (rs28362491), located in between two putative key promoter regulatory elements of NFKB1 destroys a transcription factor binding site; hence leading to differential expression ( 5 ). Previously, Bianco and his colleagues demonstrated a positive association of this polymorphism with severe endometriosis and idiopathic infertility ( 6 ).…”

Section: Introductionmentioning

confidence: 97%

NFKB1 rs28362491 and pre-miRNA-146a rs2910164 SNPs on E-Cadherin expression in case of idiopathic oligospermia: A case-control study

Tunçdemi̇r¹,

Yenmiş²,

Tombultürk³

et al. 2018

IJRM

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Background:A notable proportion of idiopathic male infertility cases is accompanied by oligozoospermia; and yet, the molecular mechanisms of fertilization problem underlying this defect are still unclear. Epithelial cadherin has been involved in several calcium-dependent cell-to-cell adhesion events; however, its participation in gamete interaction has also not been fully investigated.Objective:The aim was to investigate the changes in the expression of E-cadherin, based on the frequency of Single nucleotide polymorphisms in Nuclear Factor Kappa-B 1 and pre-mir-146a in oligospermic men.Materials and Methods: In this case-control study, semen and blood samples of 131 oligospermic men as the case group and 239 fertile healthy men as the control group were analyzed. Variants single nucleotide polymorphisms rs28362491 and rs2910164 were performed using polymerase chain reaction-restriction fragment length polymorphism method and E-cadherin expression were determined by immunoprecipitation studies.Results:ins/ins genotype of rs28362491 was determined as a risk factor for idiopathic oligospermia by 1.73 times (p=0.0218), whereas no significant differences were found between the groups concerning pre-mir-146a rs2910164 polymorphism (p=0.2274 in case of GC genotype and p=0.9052 in case of GG genotype). Combined genotype analysis results did not show any notable differences between the multiple comparisons of 28362491-rs2910164 in oligospermic men and control groups. In addition, E-cadherin expression of oligospermic men with ins/ins genotype was significantly lower than patients with del/ins genotype (p=0.0221). E-cadherin expression level was low in oligospermic men with respect to the control group in presence of ins/ins genotype of NFKB1 gene.Conclusion:These results suggest that ins allele prevents binding of surface proteins to spermatozoa, leading to a low affinity of sperm-oocyte interaction in oligospermic men.

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Section: Introductionmentioning

confidence: 97%

NFKB1 rs28362491 and pre-miRNA-146a rs2910164 SNPs on E-Cadherin expression in case of idiopathic oligospermia: A case-control study

Tunçdemi̇r¹,

Yenmiş²,

Tombultürk³

et al. 2018

IJRM

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“…ICAM ) (26), apoptosis (e.g. NFKB1, TNFRSF1A ) (27, 28), cell-cycle regulation (e.g. CCNB1 ) (29) and oncogenes (e.g.…”

Section: Introductionmentioning

confidence: 99%

Endometriosis Knowledgebase: a gene-based resource on endometriosis

Joseph

Mahale

2019

Database

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Endometriosis is a complex, benign, estrogen-dependent gynecological disorder with an incidence of ~10% women in reproductive age. The implantation and growth of endometrial cells outside the uterus leads to the development of endometriosis. Endometriosis is also associated with comorbid conditions like cardiovascular and autoimmune diseases. The absence of non-invasive diagnostic markers, delayed diagnosis, high risk of recurrence of the disease on surgical removal of the tissue and absence of a definitive cure for endometriosis makes it imperative to gain insights into the complex etiology of endometriosis. A plethora of genes identified from blood and endometrial biopsies, involved in different pathways like steroid metabolism, angiogenesis, inflammation, etc. have been associated with endometriosis. However, the exact mechanism and genetic etiology of endometriosis still remain unclear. The polygenic nature of the disease, incongruent phenotypic manifestations in different ethnic populations and information scattered in literature makes it difficult to delineate the sub-network of genes that will aid in disease diagnosis and effective treatment. Endometriosis Knowledgebase is a manually curated database with information on genes associated with endometriosis. It holds information on 831 genes, their associated polymorphisms, gene ontologys, pathways and diseases. Genes in the database are enriched in pathways important for cell signaling, immune regulation and reproduction. A genetic overlap is seen between endometriosis and cancers, endocrine/reproductive, nervous system, immune and metabolic diseases. Network analysis of genes in the Endometriosis Knowledgebase helped predict 13 new candidate genes for endometriosis. These genes were found to be enriched in biological processes associated with endometriosis. The Endometriosis Knowledgebase and incorporated tools for gene and sequence-based analysis will benefit both researchers and clinicians working in the realm of reproductive biology.

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“…It was previously reported in the Brazilian population that polymorphisms in the nuclear factor-κB gene promoter, B lymphocyte stimulator gene promoter and TYK2 were associated with endometriosis-related infertility. 33, 34, 35 Nevertheless, we report here for the first time that in the Chinese Han population the CYP19 rs700518 AA genotype is associated with endometriosis-related infertility. This result indicates clinical relevance with regard to two aspects.…”

Section: Discussionmentioning

confidence: 61%

CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women

Wang

et al. 2014

Exp Mol Med

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An aromatase encoded by the CYP19 gene catalyzes the final step in the biosynthesis of estrogens, which is related to endometriosis development. To assess the association of CYP19 gene polymorphisms with the risks of endometriosis, chocolate cysts and endometriosis-related infertility, a case–control study was conducted in Chinese Han women by recruiting 225 healthy control females, 146 patients with endometriosis, 94 endometriosis women with chocolate cyst and 65 women with infertility resulting from endometriosis, as diagnosed by both pathological and laparoscopic findings. Individual genotypes at rs2236722:T>C, rs700518:A>G, rs10046:T>C and [TTTA]n polymorphisms were identified. Allelic and genotypic frequencies were compared between the control group and case groups by chi-square analysis. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were determined by logistic regression analysis to predict the association of CYP19 gene polymorphisms with the risk of endometriosis, the related chocolate cysts and infertility. The genotype distributions of the tested CYP19 gene polymorphisms were not significantly different between the healthy control group and the endometriosis/endometriosis with the chocolate cyst group. However, the CYP19 rs700518AA genotype was significantly associated with an increased risk of endometriosis-related infertility (55.4% in the infertility group vs 25.3% in the control group, P<0.001; OR (95% CI): 3.66 (2.06–6.50)) under the recessive form of the A allele. Therefore, we concluded that in Chinese Han females CYP19 gene polymorphisms are not associated with susceptibility to endometriosis or chocolate cysts, whereas CYP19 rs700518AA genotype confers genetic susceptibility to endometriosis-related infertility.

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

Cited by 22 publications

References 35 publications

NFKB1 rs28362491 and pre-miRNA-146a rs2910164 SNPs on E-Cadherin expression in case of idiopathic oligospermia: A case-control study

NFKB1 rs28362491 and pre-miRNA-146a rs2910164 SNPs on E-Cadherin expression in case of idiopathic oligospermia: A case-control study

Endometriosis Knowledgebase: a gene-based resource on endometriosis

CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women

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