Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 23935397
Gene Name NOD2
Condition Endometriosis
Association Associated
Population size 80
Population details 80 (40 patients with endometriosis, 40 without endometriosis)
Sex Female
Associated genes TLR-2, TLR -9, NOD-1, NOD-2, and NOS
Other associated phenotypes Endometriosis
Increased expression of pattern recognition receptors and nitric oxide synthase in patients with endometriosis.

Int J Med Sci. 2013 Jul 30;10(9):1199-208. doi: 10.7150/ijms.5169. Print 2013.

Yeo, Seung Geun| Won, Yong Sung| Lee, Ho Yun| Kim, Young Il| Lee, Jin-Woo| Park, Dong Choon

East-West Medical Research Institute, Kyung Hee University, Korea.

OBJECTIVE: Endometriosis is characterized by repeated inflammatory changes and serious adhesions, inducing innate and adaptive immune responses within the abdominal cavity. To assess these immune responses, we evaluated the levels of expression of Toll-like receptors (TLR)-1, -2, -4, -5, and -9; nucleotide-binding oligomerization domains (NOD)-1 and -2; interleukins-1beta, -6, -8, -10, and -12; interferon-gamma; tumor necrosis factor-alpha; inducible nitric oxide synthase (iNOS) and endothelial NOS (eNOS); and immunoglobulins (Igs) in patients with endometriosis. METHODS: The levels of TLRs, NODs, cytokines, and NOS mRNAs in peritoneal effusions were assessed by real time reverse transcription-polymerase chain reaction; and IgG, IgA and IgM concentrations were measured by enzyme-linked immunosorbent assays (ELISA) in 40 patients with and 40 without endometriosis. Findings from the two groups were compared. RESULTS: We observed expression of all pattern recognition receptors (PRRs), cytokines, and NOS mRNAs and Igs in the effusion fluid of patients with and without endometriosis. The levels of TLR-2 and -9; NOD-1 and -2; iNOS and eNOS mRNAs and CA 125 were significantly higher in the endometriosis than in the non-endometriosis group (p<0.05 each). Moreover, PRR, cytokine, and NOS expression showed significant correlations (p<0.05). CONCLUSIONS: PRRs, cytokines, and NOS, which act cooperatively in the innate immune response, are closely associated with endometriosis. Increased expression of TLR-2, TLR -9, NOD-1, NOD-2, and NOS mRNA in peritoneal fluid may be associated with endometriosis.

Mesh Terms: Adult| Endometriosis/*enzymology/*genetics| Enzyme-Linked Immunosorbent Assay| Female| Humans| In Vitro Techniques| Interleukin-10/genetics| Interleukin-12/genetics| Interleukin-1beta/genetics| Interleukin-6/genetics| Interleukin-8/genetics| Mi