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Endometriosis shares similarities with several autoimmune diseases. The human leukocyte antigen ( HLA ) -C  genotype is associated with several human autoimmune diseases. HLA-C is a ligand of killer cell immunoglobulin receptors (KIRs) and is an essential regulator of natural killer cell activity, which is associated with endometriosis progression. Polymorphisms in  HLA-C  and  KIR  affect the activity of NK cells and susceptibility to several diseases. Therefore, we attempted to investigate an association between  HLA-C  genotype and  KIR  polymorphism and the occurrence of endometriosis. We tested the association of certain KIR and HLA-C combinations and the development of endometriosis by characterizing both KIR and HLA-C genes in 147 women with endometriosis and 117 controls. The  HLA-C  genotypes and  KIR  polymorphisms were analyzed via DNA-based method for higher-resolution genotyping. We found that the occurrence of  HLA-C *03:03*01 was increased in endometriosis than in control groups. Analysis of various  KIR  haplotypes revealed differences between the endometriosis and control cohorts. The number of  KIR  centromeric A/A haplotypes was increased in the endometriosis group than controls. Moreover, the endometriosis cohort was characterized by reduced number of  KIR2DS2- positive individuals in the Han Chinese population. Our current findings suggest that the  KIR  and  HLA-C  genotypes are associated with the pathogenesis of endometriosis.

Killer cell immunoglobulin-like receptors (KIR) and human leukocyte antigen-C (HLA-C) allorecognition patterns in women with endometriosis