Results
| PMID | 19903051 |
| Gene Name | TACR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | NK1R (rs811) |
| Sex | Female |
| Associated genes | NK1R |
| Other associated phenotypes |
Endometriosis |
|
Gynecol Endocrinol. 2009 Nov;25(11):726-33. doi: 10.3109/09513590903159631. Renner, Stefan P| Ekici, Arif B| Maihofner, Christian| Oppelt, Peter| Thiel, Falk C| Schrauder, Michael| Uenluehan, Nesrin| Bani, Mayada R| Strissel, Pamela L| Strick, Reiner| Beckmann, Matthias W| Fasching, Peter A Department of Gynecology and Obstetrics, University Hospital Erlangen, Erlangen, Germany. INTRODUCTION: Dysmenorrhoea is the major symptom in women with endometriosis. Recently, pain modulation through Neurokinin-1-receptor (NK1R) pathways have been investigated in neuropathic pain patients. Aim of this study was, therefore, to examine the effect of a single nucleotide polymorphism (SNP) of the NK1R gene on the susceptibility for endometriosis and the disease free survival (DFS) after surgery for endometriosis. MATERIAL AND METHODS: A case-control study was conducted and germline DNA was isolated. Patients were followed up for a recurrence of the disease up to 4 years. Case-control analyses were performed for parameters of the medical history and the genotype of the NK1R-SNP rs881. Furthermore, DFS probabilities were calculated. RESULTS: Concerning the DFS preoperative pain levels and the NK1R genotype were independent predictors for a recurrence with hazard ratios of 2.55 (95% CI: 1.32-4.95) for patients with a high preoperative pain level and 0.44 for patients with a heterozygous or homozygous variant genotype in rs881 (95% CI: 0.21-0.88). CONCLUSION: The polymorphism rs811 seems to be associated with a lower recurrence risk in endometriosis patients. Thus, there might be a clinical relevant role of the NK1 pathway in the pain perception of endometriosis patients. Mesh Terms: Adult| Case-Control Studies| Disease-Free Survival| Endometriosis/*genetics/physiopathology/*surgery| Female| *Genetic Predisposition to Disease| Genotype| Heterozygote| Homozygote| Humans| Kaplan-Meier Estimate| Middle Aged| Pain/physiopathol |
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