Background: Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontitis. Although cathepsin C (CTSC) gene mutations have been established in about 70-80% of PLS patients, it is assumed that the patients may have dysfunctioning of immune defense mechanisms.
Objective: To assess the association of HLA class II genes and PLS.
Methods: HLA class II genes were typed in nine Iranian PLS patients and their family members and the results were compared to 816 Iranian healthy subjects.
Results: The results of this study revealed that DRB1*0101 and DRB1*0301 alleles were more frequent in PLS patients than in normal controls. However, there was no significant difference between PLS patients and normal controls. Moreover, the same haplotypes and genotype combinations were also observed in some patients and their healthy siblings.
Conclusion: The results of this study showed no strong association between HLA class II alleles and PLS.
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