Results
PMID | 17997746 |
Gene Name | KIR3DS1 |
Condition | Endometriosis |
Association |
Associated |
Population size | 351 |
Population details | 351 (186 patients with endometriosis, 165 control) |
Sex | Female |
Other associated phenotypes |
Endometriosis |
Am J Reprod Immunol. 2007 Dec;58(6):481-6. Kitawaki, Jo| Xu, Bing| Ishihara, Hiroaki| Fukui, Michiaki| Hasegawa, Goji| Nakamura, Naoto| Mizuno, Shigeto| Ohta, Mitsuhiro| Obayashi, Hiroshi| Honjo, Hideo Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan. kitawaki@koto.kpu-m.ac.jp PROBLEM: Endometriosis is an immune-related chronic inflammatory disease with a polygenic predisposition. The aim of this study was to investigate whether polymorphisms in killer cell immunoglobulin-like receptors (KIRs) is responsible, in part, for genetic susceptibility to endometriosis. METHOD OF STUDY: The KIRs genotype was determined in 186 patients with endometriosis and 165 control women using polymerase chain reaction with sequence-specific primers. RESULTS: The frequency of KIR3DS1 was significantly decreased in patients compared with controls (32% versus 44%, P=0.028). KIR data were analyzed using a model comprised of three large groups, in which a gradient of activation/inhibitory potential derived from the combination of KIR and human leukocyte antigen (HLA) ligand genes was taken into account. The frequency of inhibitory KIRs/HLA-class I combination genotypes was significantly higher in patients than in controls (chi2=6.010, 2 df, P=0.0496). CONCLUSION: Our results suggest that polymorphism in KIRs may be associated with susceptibility for endometriosis. Mesh Terms: Adult| Case-Control Studies| Endometriosis/*genetics/*immunology| Female| Genes, MHC Class I/immunology| Genetic Predisposition to Disease| Genotype| Humans| Killer Cells, Natural/immunology| Middle Aged| Polymorphism, Genetic| Receptors, KIR/* |