Association study of a functional SNP rs28493229 of ITPKC gene and Kawasaki disease in a Chinese population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>Kawasaki disease (KD) is a form of acute multi-systemic vasculitis with unknown etiology. It is the leading cause of acquired heart disease in children due to the frequent occurrence of coronary artery lesions (CALs). Recently, a C allele of rs28493229 (G/C) in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene was found to significantly increase the risk for KD/CALs in Japanese population. It is important to confirm such finding in Chinese population to enable prognosis and personalized therapy for KD.</p><p><b>METHODS</b>A case-control study was performed. The patient group has included 206 unrelated patients with KD, and the control group included 285 age, gender and ethnically matched children who never had KD. Genotyping of rs28493229 was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing. The allele, genotype and C allele carrier frequencies were compared between the two groups, patients with or without CALs, and patients who were resistant or responsive to (intravenous immunoglobulin, IVIG) treatment.</p><p><b>RESULTS</b>Frequency of the C allele of rs28493229 was significantly lower in both groups than that in the Japanese population (P< 0.01). No significant difference was detected between the two groups in terms of allele, genotype and C carrier of rs28493229 frequencies. Such frequencies were also similar between patients with or without CALs, resistant or responsive to IVIG treatment.</p><p><b>CONCLUSION</b>Our study has failed to prove any association between rs28493229 and KD/CALs in Chinese patients, which indicated that the C allele of rs28493229 may not be used as a molecular marker for determining KD susceptibility, prognosis and effect of treatment. The much lower frequency of C allele does not support its significance in the occurrence of KD/CALs in Chinese population. It is still necessary to find functional SNPs in ITPKC gene which is associated with KD/CALs in Chinese population.</p>