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INVESTIGATION OF KIR GENE ASSOCIATIONS WITHIN TWO DISEASE GROUPS - TYPE I DIABETES AND PSORIASIS.
Fionnuala Williams, Iris Halfpenny, Cindy Helms, Anne Bowcock, Eva Tuomilehto-Wolf and Derek Middleton. Belfast United Kingdom, City Hospital, Histocompatibility
Immunogenetics Lab; St. Louis USA, Washington School of Medicine, Dept of Genetics and Helsinki Finland, Public Health Institute, Dept of Epidemiology Health Promotion.
Natural killer (NK) cells are often present in many organs targeted in autoimmunity and decreased NK cell function has been reported in several autoimmune diseases. The chromosome 19 KIR genes, in particular the activating genes, have been implicated in autoimmune pathogenesis. KIR genotyping by PCR-SSOP was performed on two distinct autoimmune disorders to investigate any possible relationship between KIR genes within each particular disease.
Analysis of a Type I Diabetic cohort (n = 69), revealed a significant reduction in KIR2DS2 (37.7% vs 51.2%, p = 0.024) and KIR2DL2 (34.8% vs 50.8%, p = 0.009) when compared to controls. This same finding was detected in the analysis of a second cohort of patients. A similar study was performed on Psoriasis patients (n = 208). Within this cohort 64 individuals had been additionally diagnosed as positive for psoriatic arthritis (PsA), an inflammatory arthritis associated with psoriasis. KIR2SD1 was found to be significantly reduced in psoriasis patients without PsA (31.3%) compared to controls (45.2%), p = 0.013. This preliminary study indicates that the presence of KIR2DS1 in patients with psoriasis may be involved in the progression to PsA. An analysis considering the patients HLA class I types together with their KIR gene content is currently underway within both disease groups.
These studies indicate the possible importance of KIR genes in autoimmune disease progression, with particular emphasis on the activating KIR2DS genes.