Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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
Association of killer cell immunoglobulin-like receptor genotypes with susceptibility to 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/*