Background: Kawasaki disease (KD) is a frequent cause of acquired heart disease in infants and young children, which may be triggered by infectious agents, with the highest incidence in Asian countries. Several genotypes are identified as susceptibility genes for KD, but none is known in the Iranian population. Objectives: Due to the racial differences in the frequency and significance of the identified genes, we aimed to investigate the 8p22-23-rs2254546 genotypes in a sample of Iranian children and their association with aneurysm and resistance to treatment. Methods: In this prospective cross-sectional study, 100 children with KD as the sample group were compared with 100 matched unrelated healthy Iranian children with no history of KD or immune-related disease. The control subjects were ethnically recruited from the same hospital at the time of a routine physical examination. The 8p22-23-rs2254546 genotypes were analyzed using the polymerase chain reaction (PCR) and direct sequencing techniques, and the frequency of the three genotypes (GA, AA, and GG) was reported. Finally, the frequency of aneurysm and IVIG resistance was reported, and their associations with 8p22-23-rs2254546 genotypes were tested by SPSS software. Results: Of 100 patients with a mean age of 1.9 ± 1.7 (0.1 - 10.2) years, 57% were boys and 43% were girls. Of them, 62% had GG, 30% GA, and 8% AA genotypes. Besides, 21% of the studied patients were resistant to IVIG, and 19% had aneurysm, but resistance to IVIG and aneurysm was not associated with GG and GA genotypes of 8p22-23-rs2254546 (P = 0.29 and 0.88, respectively). Conclusions: The majority of the children with KD were shown to have this genetic susceptibility, which shows the importance of the 8p22-23-rs2254546 genotype in Iranian children. However, this genotype was not associated with the risk of resistance to IVIG and aneurysm.
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