Association Between rs12037447, rs146732504, rs151078858, rs55723436, and rs6094136 Polymorphisms and Kawasaki Disease in the Population of Polish Children.

摘要: Background: Kawasaki disease (KD) is an acute self-limited febrile vasculitis that mainly affects young children. Coronary artery involvement the most serious complication in children with KD. It currently leading cause of acquired cardiac from developed countries. Literature data indicate a significant role genetic susceptibility to Objective: The aim this study was perform first Genome-Wide Association Study (GWAS) population Polish KD and identify susceptible genes involved pathogenesis Materials Methods: blood samples patients (n = 119) were collected between 2016 2020, isolated stored at Department Pediatrics, Nutrition Metabolic Diseases, Children's Memorial Health Institute Warsaw. control group based on donors 6,071) registered as POPULOUS collection Biobank Lab Molecular Biophysics University Lodz. DNA genotyped for 558,231 Single Nucleotide Polymorphisms (SNPs) using 24 × 1 Infinium HTS Human Core Exome microarrays according protocol provided by manufacturer. In order discover verify risk-factors KD, association analysis carried out PLINK 1.9. Results: Of all 164,395 variants, 5 shown occur statistically (padjusted < 0.05) more frequent than controls. Those are: rs12037447 non-coding sequence 8.329 10-4, OR 8.697, 95% CI; 3.629-20.84) rs146732504 KIF25 0.007354, 11.42, 3.79-34.43), rs151078858 PTPRJ 0.04513, 8.116, 3.134-21.01), rs55723436 SPECC1L 0.04596, 5.596, 2.669-11.74), rs6094136 RPN2 0.04755, 10.08, 3.385-30.01) genes. Conclusion: KIF25, PTRPJ, SPECC1L, RNP2 may be linked incidence