Abstract

Endometriosis is defined as the presence of functional endometrial tissue outside the uterine cavity. Several hypotheses have attempted to explain the etiology and pathogenesis of endometriosis. Recently, it has been suggested that a defect of the natural killer (NK) activity in the recognition and lysis of endometrial cells is one of the crucial points in the development of this disease. Natural killer cells can express killer immunoglobulin-like receptors (KIR), which recognize class I human leukocyte antigens on target cells. We asked whether polymorphisms in KIR, HLA-C, and HLA-B genes are risk factors for endometriosis. We tested 153 women with endometriosis diagnosed on the basis of laparoscopic and histological examination, and 213 control healthy women, who gave birth to at least one child. The frequency of KIR genes in patients was similar to that in controls except for KIR2DS5, which exerted a protective effect only in HLA-C C2-positive individuals. Moreover, KIR2DS5-positive women with endometriosis had 13 times lower chance that the disease would occupy the peritoneum than KIR2DS5- and KIR2DS4del-negative ones (OR = 0.077, P = 0.0061). Similarly, KIR2DS4del-positive endometriotic persons had 11 times lower chance for peritoneal disease (OR = 0.094, P < 0.001). Negative linkage disequilibrium between KIR2DS5 and KIR2DS4del indicates that these genes are mutually exclusive. Our data suggest that KIR2DS5 may be associated with protection from endometriosis, whereas KIR2DS4del seems to be associated with higher disease stages, possibly by exclusion of protective KIR2DS5.Electronic supplementary materialThe online version of this article (doi:10.1007/s00251-015-0828-3) contains supplementary material, which is available to authorized users.

Highlights

  • Materials and methodsEndometriosis is a common gynecological disease, which affects approximately from 2 to 10 % of women in reproductive age

  • KIR2DS5-positive women with endometriosis had 13 times lower chance that the disease would occupy the peritoneum than KIR2DS5- and KIR2DS4del-negative ones (OR=0.077, P=0.0061)

  • The aim of our study was to find an association of killer immunoglobulin-like receptors (KIR) genes and their human leukocyte antigens (HLA) ligands with susceptibility to endometriosis in Polish women

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Summary

Introduction

Materials and methodsEndometriosis is a common gynecological disease, which affects approximately from 2 to 10 % of women in reproductive age. Endometriosis is defined as the presence of functional endometrial tissue outside the uterine cavity, mostly in the pelvic peritoneum, ovaries, and rectovaginal septum (Burney and Giudice 2012; Gupta et al 2008; The Practice Committee of the American Society for Reproductive Medicine 2012). It has been suggested that a defect of the natural killer (NK) activity in the recognition and lysis of these implanted endometrial cells may be one of the crucial points in the initiation and progression of endometriosis (Berkkanoglu and Arici 2003). Natural killer cells can express killer immunoglobulin-like receptors (KIR), which recognize class I human leukocyte antigens (HLA) on target cells and may either stimulate or inhibit NK cell activity.

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