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Analysis of single nucleotide polymorphisms of CD40 gene of Han people with Kawasaki disease in Shanghai

PU Tian, XIE Jing, YANG Jian-ping, CHEN Sun, SHEN Jia   

  1. Department of Pediatric Cardiovascular, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
  • Online:2015-02-28 Published:2015-02-27
  • Supported by:

    Guide Project of Science and Technology Commission of Shanghai Municipality, 124119a3900；National Basic Research Program of China （973 Program）2010CB529500； Biomedical Engineering Cross Research Foundation of Shanghai Jiao Tong University，YG2011MS08

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Abstract:

Objective To investigate the relationship of the incidence of Kawasaki disease and c.4833 C>T and c.5077 T>C polymorphisms of CD40 gene and to explore the possible molecular biological pathogenesis of Kawasaki disease. Methods Eighty-one children who were diagnosed with Kawasaki disease were selected as study subjects (case group) and 96 healthy children were chosen as controls (control group). PCR was adopted to amplify promoters and all exons of CD40 gene. Paired-end sequencing was performed for all amplified fragments. Sequenced CD40 gene was compared with the known sequence in GenBank (NG 007279-1) by the BLAST program and possible single nucleotide polymorphisms (SNP) were screened. Results Two reported SNP in the sequence of promoters of CD40 gene, i.e. rs752118 and rs1883832, were detected in both case group and control group. The differences of frequencies of alleles of two SNPs between two groups were not statistically significant (P=0.362, P=0.769). Conclusion Two SNPs in the sequence of promoters of CD40 gene have no significant effect on the incidence and prognosis of Kawasaki disease and can be regarded as normal SNPs of Chinese Han people.

Key words: Kawasaki disease, CD40 gene, single nucleotide polymorphis