KIR2DS5 in the presence of HLA-C C2 protects against endometriosis

Izabela Nowak, Rafał Płoski, Ewa Barcz, Piotr Dziunycz, Paweł Kamiński, Grażyna Kostrzewa, Łukasz Milewski, Piotr I Roszkowski, David Senitzer, Jacek Malejczyk, Piotr Kuśnierczyk
Immunogenetics · 2015 · vol. 67(4) , pp. 203–209 · doi:10.1007/s00251-015-0828-3 · PMID:25724317 · PMC4357646 · W1996370086
article OA: gold CC0 ⤵ 11 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

The frequency of the KIR2DS5 gene variant showed a protective effect against endometriosis, particularly in individuals with the HLA-C C2 genotype, whereas KIR2DS4del was associated with higher disease stages.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 ⓘ

This case-control study investigated whether polymorphisms in killer immunoglobulin-like receptors (KIR) and their HLA ligands (HLA-C1/C2 and HLA-B epitopes) are associated with susceptibility and clinical stage of endometriosis in 153 laparoscopically and histologically diagnosed Polish women versus 213 control women. KIR genotyping and HLA-C/B typing were analyzed for frequency differences, including stage/subtype comparisons (minimal-to-severe stages and ovarian versus peritoneal involvement). The main finding was that KIR2DS5 decreased endometriosis risk, but only among individuals carrying HLA-C C2, while KIR2DS5 showed no effect in HLA-C C2–negative individuals; C2 carriage alone was not associated with risk. The paper relates to endometriosis because it identifies an HLA-C C2–dependent protective association of KIR2DS5 and analyzes KIR2DS4 deletion in relation to endometriosis stage and peritoneal disease distribution.

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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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis HLA-C Antigens Receptors, KIR Adult Endometriosis Endometriosis Endometriosis Female Gene Frequency Genetic Predisposition to Disease HLA-C Antigens Humans Killer Cells, Natural Killer Cells, Natural Linkage Disequilibrium Linkage Disequilibrium Middle Aged Poland Poland Receptors, KIR

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