Association of mammalian target of rapamycin gene locus rs1883965 polymorphism with kawasaki disease

Objective To investigate the genetic association of mammalian target of rapamycin (mTOR) gene locus rs1883965 polymorphism with kawasaki disease (KD). Methods This is a case-control study, 100 patients with KD were enrolled from inpatients and follow-up outpatients who visited the Third Xiangya Hospital of Central South University during January 2012 to December 2015, and 100 healthy subjects were enrolled from the health management center of the Third Xiangya Hospital of Central South University in this study. The genotype of locus rs1883965 of mTOR was detected by polymerase chain reaction and gene sequencing. Results For locus rs1883965 polymorphism in mTOR gene, there were no significant differences between KD patients and the controls in genotype frequencies of CC, CT and TT (81.0%, 19.0%, 0%; 85.0%, 14.0%, 1.0%), and allele frequencies of C and T (90.5%, 9.5%; 92.0%, 8.0%) (χ2=1.85, 0.28, all P>0.05). For locus rs1883965 polymorphism in mTOR gene, KD patients with coronary artery lesion (CAL) in genotype frequencies of CC, CT and TT (80.0%, 20.0%, 0.0%) and allele frequencies of C and T(90.0%, 10.0%), and KD patients without CAL in genotype frequencies of CC, CT and TT (81.2%, 18.8%, 0%) and allele frequencies of C and T(90.6%, 9.4%). There were no significant differences between the two groups (χ2=0.02, 0.02, all P>0.05). Conclusion No association is found between rs1883965 polymorphism in mTOR gene and the risk of KD and its complication of CAL in this study. Key words: Mammalian target of rapamycin; Mucocutaneous lymph node syndrome; Polymorphism, single nucleotide; Coronary vessels