Possible association of killer cell immunoglobulin-like receptor genotypes and haplotypes with dry eye disease in a Han Chinese population

PURPOSE: The objective of this study was to explore whether killer immunoglobulin-like receptor (KIR) genotypes and haplotypes are associated with dry eye disease (DED) in a Han Chinese population. METHODS: Polymerase chain reaction with sequence-specific primers (PCR-SSP) method was used to genotype KIR genes in 106 patients with DED and 220 healthy controls. RESULTS: Twenty-three KIR genotypes were observed in the DED patient and healthy control groups, ten of which had not been described previously. The genotype G and haplotype 4 were associated with increased risk of DED, and the odds ratio (OR) and 95% confidence interval (95% CI) were 2.58, 1.10–6.02 and 2.48, 1.31–4.69, respectively; while haplotype 2 appeared to have an inverse association with the disease (OR, 0.64; 95% CI, 0.44–0.92). Genotype B/B was also associated with increased risk of DED, and the OR and 95% CI were 2.35 and 1.09–5.10, respectively. KIR haplotypes A and B have distinctive centromeric (Cen) and telomeric (Tel) gene-content motifs, and Cen-B/B was associated with increased risk of DED (OR, 2.38; 95% CI, 1.03–5.49). However, all frequencies of these KIR genotypes and haplotypes were no longer statistically significant between the two groups after the Bonferroni correction was applied for multiple testing. CONCLUSIONS: There was a possible association between certain KIR genotypes and haplotypes with DED in a Han Chinese population. However, additional confirmation is required.